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Entry
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- *601439 - ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9
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- OMIM
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<p>
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<span class="h4">*601439</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<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/601439">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div 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=ENSG00000069431;t=ENST00000261200" 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=10060" 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=601439" 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 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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<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=ENSG00000069431;t=ENST00000261200" 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_001377273,NM_001377274,NM_005691,NM_020297,XM_005253288,XM_005253289,XM_005253290,XM_011520545" 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_020297" 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=601439" 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=03258&isoform_id=03258_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/ABCC9" 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/3127175,3127176,21708093,21753178,110832835,110832837,119616858,119616859,119616860,119616861,119616862,119616863,119616864,119616865,119616866,215273925,530398970,530398972,530398974,767971627,1469281670,1469281672,1471157316,1786986074,1786986097,2462529192,2462529194,2462529196,2462529198" 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/O60706" 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=10060" 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=ENSG00000069431;t=ENST00000261200" 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=ABCC9" 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=ABCC9" 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+10060" 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/ABCC9" 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:10060" 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/10060" 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=chr12&hgg_gene=ENST00000261200.9&hgg_start=21797389&hgg_end=21941426&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/genes/HGNC:60" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601439[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=601439[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ABCC9/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000069431" 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=ABCC9" 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=ABCC9" 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=ABCC9" 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=ABCC9&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/PA396" 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:60" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0028675.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1352630" 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/ABCC9#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:1352630" 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/10060/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://omia.org/OMIA002710/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=10060" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050517-23" 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:10060" 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=ABCC9&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 239087008<br />
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">ICD+</a>
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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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601439
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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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ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9
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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>
|
|
<span class="mim-font">
|
|
SULFONYLUREA RECEPTOR 2; SUR2
|
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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=ABCC9" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ABCC9</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/12/230?start=-3&limit=10&highlight=230">12p12.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:21797389-21941426&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'})">12:21,797,389-21,941,426</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=614050,608569,239850,619719" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/230?start=-3&limit=10&highlight=230">
|
|
12p12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Atrial fibrillation, familial, 12
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614050"> 614050 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Cardiomyopathy, dilated, 1O
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/608569"> 608569 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Hypertrichotic osteochondrodysplasia (Cantu syndrome)
|
|
|
|
</span>
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<p>The ABCC9 gene encodes a regulatory sulfonylurea receptor (SUR2) that coassembles with pore-forming subunits KCNJ8 (<a href="/entry/600935">600935</a> and KCNJ11 (<a href="/entry/600937">600937</a>) to form nucleotide-gated potassium channels (summary by <a href="#12" class="mim-tip-reference" title="Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. A. M., Hjellnes, H., Arntzen, K. A., Muller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., and 13 others. <strong>ABCC9-related intellectual disability myopathy syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.</strong> Nature Commun. 10: 4457, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31575858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31575858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31575858[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41467-019-12428-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31575858">Smeland et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31575858" 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>ATP-sensitive potassium, or K(ATP), channels are characterized by inhibition of channel opening when the ATP concentration at the cytoplasmic cell surface is increased. <a href="#7" class="mim-tip-reference" title="Inagaki, N., Gonoi, T., Clement, J. P., IV, Wang, C.-Z., Aguilar-Bryan, L., Bryan, J., Seino, S. <strong>A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K(+) channels.</strong> Neuron 16: 1011-1017, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630239</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80124-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630239">Inagaki et al. (1996)</a> noted that sulfonylureas, substances widely used as oral hypoglycemic agents in the treatment of noninsulin-dependent diabetes mellitus (NIDDM), have been shown to inhibit the activity of K(ATP) channels. A cDNA corresponding to SUR (<a href="/entry/600509">600509</a>), the high-affinity sulfonylurea receptor, was cloned by <a href="#1" class="mim-tip-reference" title="Aguilar-Bryan, L., Nichols, C. G., Wechsler, S. W., Clement, J. P., IV, Boyd, A. E., III, Gonzalez, G., Herrera-Sosa, H., Nguy, K., Bryan, J., Nelson, D. A. <strong>Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion.</strong> Science 268: 423-426, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7716547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7716547</a>] [<a href="https://doi.org/10.1126/science.7716547" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7716547">Aguilar-Bryan et al. (1995)</a>. <a href="#6" class="mim-tip-reference" title="Inagaki, N., Gonoi, T., Clement, J. P., IV., Namba, N., Inazawa, J., Gonzalez, G., Aguilar-Bryan, L., Seino, S., Bryan, J. <strong>Reconstitution of I(KATP): an inward rectifier subunit plus the sulfonylurea receptor.</strong> Science 270: 1166-1169, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7502040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7502040</a>] [<a href="https://doi.org/10.1126/science.270.5239.1166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7502040">Inagaki et al. (1995)</a> showed that the pancreatic beta-cell K(ATP) channel consists of at least 2 subunits, BIR (<a href="/entry/600937">600937</a>) and SUR. An isoform of SUR, designated sulfonylurea receptor-2 (SUR2), was cloned by <a href="#7" class="mim-tip-reference" title="Inagaki, N., Gonoi, T., Clement, J. P., IV, Wang, C.-Z., Aguilar-Bryan, L., Bryan, J., Seino, S. <strong>A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K(+) channels.</strong> Neuron 16: 1011-1017, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630239</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80124-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630239">Inagaki et al. (1996)</a> from a rat brain cDNA library. The 5,300-bp cDNA sequence encodes a polypeptide of 1,545 amino acids that shares 68% identity with SUR. Northern blot analysis showed that the tissue distribution of Sur2 is different from that of SUR. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8630239+7502040+7716547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using rat Sur2 as probe, <a href="#3" class="mim-tip-reference" title="Chutkow, W. A., Simon, M. C., Le Beau, M. M., Burant, C. F. <strong>Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular K-ATP channels.</strong> Diabetes 45: 1439-1445, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826984</a>] [<a href="https://doi.org/10.2337/diab.45.10.1439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826984">Chutkow et al. (1996)</a> cloned SUR2 from a skeletal muscle cDNA library. Northern blot analysis detected 3 SUR2 transcripts of about 9.4, 7.6, and 5.6 kb, with the highest level of the longer transcript in heart and skeletal muscle. Little to no SUR2 expression was detected in other tissues examined. <a href="#3" class="mim-tip-reference" title="Chutkow, W. A., Simon, M. C., Le Beau, M. M., Burant, C. F. <strong>Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular K-ATP channels.</strong> Diabetes 45: 1439-1445, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826984</a>] [<a href="https://doi.org/10.2337/diab.45.10.1439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826984">Chutkow et al. (1996)</a> cloned 2 alternatively spliced mouse Sur2 cDNAs encoding deduced proteins of 1,512 and 1,547 amino acids, with calculated molecular masses of 170 and 174 kD, respectively. Mouse Sur2 has 13 transmembrane domains and intracellular Walker A and B ATP-binding domains. In contrast to the pattern of human SUR2 expression, mouse Sur2 was expressed ubiquitously as a 9.4-kb transcript. An 8.6-kb transcript was also detected at highest levels in skeletal muscle and heart and at lower levels in aorta and bladder. In situ hybridization of day-16.5 mouse embryos confirmed ubiquitous expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8826984" 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="#12" class="mim-tip-reference" title="Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. A. M., Hjellnes, H., Arntzen, K. A., Muller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., and 13 others. <strong>ABCC9-related intellectual disability myopathy syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.</strong> Nature Commun. 10: 4457, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31575858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31575858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31575858[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41467-019-12428-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31575858">Smeland et al. (2019)</a> noted that ABCC9 is alternatively spliced to yield 2 major isoforms, SUR2A and SUR2B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31575858" 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 FISH, <a href="#3" class="mim-tip-reference" title="Chutkow, W. A., Simon, M. C., Le Beau, M. M., Burant, C. F. <strong>Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular K-ATP channels.</strong> Diabetes 45: 1439-1445, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8826984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8826984</a>] [<a href="https://doi.org/10.2337/diab.45.10.1439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8826984">Chutkow et al. (1996)</a> mapped the ABCC9 gene to chromosome 12p12.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8826984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Inagaki, N., Gonoi, T., Clement, J. P., IV, Wang, C.-Z., Aguilar-Bryan, L., Bryan, J., Seino, S. <strong>A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K(+) channels.</strong> Neuron 16: 1011-1017, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8630239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8630239</a>] [<a href="https://doi.org/10.1016/s0896-6273(00)80124-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8630239">Inagaki et al. (1996)</a> found that coexpression of rat Sur2 and BIR in COS-1 cells reconstituted the properties of K(ATP) channels described in cardiac and skeletal muscle. However, the Sur2/BIR channel was less sensitive than the SUR/BIR channel both to ATP and to the sulfonylurea glibenclamide. The Sur2/BIR channel was activated by the cardiac K(ATP) channel openers cromakalim and pinacidil, but not by diazoxide. The authors noted that the affinity of Sur2 for sulfonylureas was 500 times lower than that of SUR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8630239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#2" class="mim-tip-reference" title="Bienengraeber, M., Olson, T. M., Selivanov, V. A., Kathmann, E. C., O'Cochlain, F., Gao, F., Karger, A. B., Ballew, J. D., Hodgson, D. M., Zingman, L. V., Pang, Y.-P., Alekseev, A. E., Terzic, A. <strong>ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating.</strong> Nature Genet. 36: 382-387, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15034580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15034580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15034580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15034580">Bienengraeber et al. (2004)</a> identified 2 mutations in exon 38 of the ABCC9 gene that resulted in dilated cardiomyopathy (CMD1O; <a href="/entry/608569">608569</a>). A male who was diagnosed at age 55 and died from heart failure at age 60 had a frameshift mutation (<a href="#0001">601439.0001</a>). A female who was diagnosed at age 40 had an ala1513-to-thr substitution (<a href="#0002">601439.0002</a>). Her father was diagnosed at age 54 and died at age 55 of heart failure. All 3 individuals had ventricular tachycardia and normal coronary angiography. The C terminus of SUR proteins contributes to K(ATP) channel trafficking, and the frameshift and missense SUR2A mutants, reconstituted with Kir6.2 (<a href="/entry/600937">600937</a>), had reduced expression in the plasma membrane; yet, mutant K(ATP) channel complexes formed functional channels with intact pore properties. Structural molecular dynamics stimulation showed that residues ala1513 and leu1524 flank the C-terminal beta-strand in close proximity to the signature Walker A motif, required for coordination of nucleotides in the catalytic pocket of ATP-binding cassette proteins. Replacement of ala1513 with a sterically larger and more hydrophilic threonine residue or truncation of the C terminus caused by the frameshift would disrupt folding of the C-terminal beta-strand. ATP-induced K(ATP) channel gating was aberrant in both channel mutants, suggesting that structural alterations induced by the mutations distorted ATP-dependent pore regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15034580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Familial Atrial Fibrillation 12</em></strong></p><p>
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In a 53-year-old white woman with paroxysmal atrial fibrillation (ATFB12; <a href="/entry/614050">614050</a>), <a href="#9" class="mim-tip-reference" title="Olson, T. M., Alekseev, A. E., Moreau, C., Liu, X. K., Zingman, L. V., Miki, T., Seino, S., Asirvatham, S. J., Jahangir, A., Terzic, A. <strong>K(ATP) channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.</strong> Nat. Clin. Pract. Cardiovasc. Med. 4: 110-116, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17245405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17245405</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17245405[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncpcardio0792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17245405">Olson et al. (2007)</a> sequenced cardiac ion channel genes and identified a heterozygous mutation in the ABCC9 gene (T1547I; <a href="#0003">601439.0003</a>). The authors stated that subsequent targeted screening for the T1547I ABCC9 mutation in an additional 154 patients with diverse presentations of AF indicated that this specific genetic substitution is not common. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17245405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Hypertrichotic Osteochondrodysplasia</em></strong></p><p>
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In 11 of 14 patients from 10 families with hypertrichotic osteochondrodysplasia (Cantu syndrome; <a href="/entry/239850">239850</a>), <a href="#13" class="mim-tip-reference" title="van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., and 9 others. <strong>Cantu syndrome is caused by mutations in ABCC9.</strong> Am. J. Hum. Genet. 90: 1094-1101, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22608503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22608503</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22608503">van Bon et al. (2012)</a> identified heterozygosity for 4 different missense mutations in the ABCC9 gene (<a href="#0004">601439.0004</a>-<a href="#0007">601439.0007</a>). <a href="#13" class="mim-tip-reference" title="van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., and 9 others. <strong>Cantu syndrome is caused by mutations in ABCC9.</strong> Am. J. Hum. Genet. 90: 1094-1101, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22608503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22608503</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22608503">Van Bon et al. (2012)</a> noted that previously reported mutations in ABCC9 associated with CMD10 occur in an exon that is only transcribed in the isoform SUR2A, showing high cardiac muscle expression, which may explain why that phenotype remains restricted to the heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22608503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 14 of 16 patients with Cantu syndrome, <a href="#5" class="mim-tip-reference" title="Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others. <strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong> Nature Genet. 44: 793-796, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22610116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22610116</a>] [<a href="https://doi.org/10.1038/ng.2324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22610116">Harakalova et al. (2012)</a> identified heterozygosity for 11 different missense mutations in the ABCC9 gene (see, e.g., <a href="#0004">601439.0004</a>, <a href="#0005">601439.0005</a>, and <a href="#0008">601439.0008</a>-<a href="#0011">601439.0011</a>). Except for 1 mother-son pair, the mutation was shown to have arisen de novo in all of the patients for whom parental DNA was available. All of the mutations involved highly conserved regions of the protein, and none was present in more than 5,000 publicly available whole-exome sequences. Electrophysiologic studies demonstrated that the mutant channels reduce ATP-mediated potassium channel inhibition, resulting in channel opening. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22610116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic Mutation in Cancer</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W. <strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong> Nature Genet. 44: 1310-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23104009">Le Gallo et al. (2012)</a> used whole-exome sequencing to comprehensively search for somatic mutations in 13 primary serous endometrial tumors (see <a href="/entry/608089">608089</a>), and subsequently resequenced 18 genes that were mutated in more than 1 tumor and/or were components of an enriched functional grouping from 40 additional serous tumors. <a href="#8" class="mim-tip-reference" title="Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W. <strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong> Nature Genet. 44: 1310-1315, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23104009">Le Gallo et al. (2012)</a> identified a high frequency (6%) of somatic mutation in the ABCC9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23104009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Intellectual Disability And Myopathy Syndrome</em></strong></p><p>
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In 6 patients from 2 unrelated families from the same region of Northern Norway with probable Finnish ancestry with intellectual disability and myopathy syndrome (IDMYS; <a href="/entry/619719">619719</a>), <a href="#12" class="mim-tip-reference" title="Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. A. M., Hjellnes, H., Arntzen, K. A., Muller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., and 13 others. <strong>ABCC9-related intellectual disability myopathy syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.</strong> Nature Commun. 10: 4457, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31575858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31575858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31575858[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41467-019-12428-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31575858">Smeland et al. (2019)</a> identified a homozygous splice site mutation in the ABCC9 gene (<a href="#0012">601439.0012</a>). The mutation, which was found by targeted next-generation sequencing of a gene panel and confirmed by Sanger sequencing, segregated with the disorder in the families. In vitro functional expression assays in cells expressing the mutation showed about a 50% decrease in protein expression compared to controls, and complete loss of K(ATP) channel function, consistent with a loss of function. There was no evidence for a dominant-negative effect. The authors postulated that some of the phenotypic features may be due to disrupted function of the gene in striated muscle, smooth muscle, and the cerebral vasculature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31575858" 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="#12" class="mim-tip-reference" title="Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. A. M., Hjellnes, H., Arntzen, K. A., Muller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., and 13 others. <strong>ABCC9-related intellectual disability myopathy syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.</strong> Nature Commun. 10: 4457, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31575858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31575858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31575858[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41467-019-12428-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31575858">Smeland et al. (2019)</a> found that homozygous mice with a nonsense mutation in exon 8 of the Abcc9 gene showed progressively decreased motor performance due to fatigability, although sensorimotor function was normal. Older mutant mice developed cardiac abnormalities, including impaired left ventricular function, dilated cardiomyopathy, and hypertension. No abnormalities were observed in cognitive and behavioral tests. CRISPR/Cas9-mediated knockdown of the abcc9 gene in zebrafish resulted in decreased overall movements and decreased total swimming distance compared to controls, but they moved for a similar time period. Mutant zebrafish developed systolic dysfunction, reduced cardiac output, enlarged heart size, and increased velocity of red blood cells (possible hypertension) compared to controls. They also showed hypotelorism as an isolated dysmorphic feature; hypotelorism was not observed in the mutant mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31575858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 55-year-old male with dilated cardiomyopathy with ventricular tachycardia (CMD1O; <a href="/entry/608569">608569</a>), <a href="#2" class="mim-tip-reference" title="Bienengraeber, M., Olson, T. M., Selivanov, V. A., Kathmann, E. C., O'Cochlain, F., Gao, F., Karger, A. B., Ballew, J. D., Hodgson, D. M., Zingman, L. V., Pang, Y.-P., Alekseev, A. E., Terzic, A. <strong>ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating.</strong> Nature Genet. 36: 382-387, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15034580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15034580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15034580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15034580">Bienengraeber et al. (2004)</a> identified a complex mutation in the ABCC9 gene, a 3-bp deletion followed by a 4-bp insertion (4570-4572delTTAinsAAAT) causing a frameshift at leu1524 and introducing 4 anomalous terminal residues followed by a premature stop codon. The patient died at age 60 and had no family history of dilated cardiomyopathy. This mutation was not identified in 500 unrelated control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15034580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 40-year-old woman with dilated cardiomyopathy with ventricular tachycardia (CMD1O; <a href="/entry/608569">608569</a>), <a href="#2" class="mim-tip-reference" title="Bienengraeber, M., Olson, T. M., Selivanov, V. A., Kathmann, E. C., O'Cochlain, F., Gao, F., Karger, A. B., Ballew, J. D., Hodgson, D. M., Zingman, L. V., Pang, Y.-P., Alekseev, A. E., Terzic, A. <strong>ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating.</strong> Nature Genet. 36: 382-387, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15034580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15034580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15034580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng1329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15034580">Bienengraeber et al. (2004)</a> identified a G-to-A transition at nucleotide 4537 of the ABCC9 gene, resulting in an alanine-to-threonine substitution at codon 1513 (A1513T). The patient's father died at age 55 of heart failure. The mutation was not present in the patient's mother, suggesting inheritance from the affected father. This mutation was not identified in 500 unrelated control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15034580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906805 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906805;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=rs387906805" 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=rs387906805" 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=RCV000023103 OR RCV000769372 OR RCV001375633 OR RCV001852012" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023103, RCV000769372, RCV001375633, RCV001852012" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023103...</a>
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<p>In a 53-year-old white woman with paroxysmal atrial fibrillation (ATFB12; <a href="/entry/614050">614050</a>), <a href="#9" class="mim-tip-reference" title="Olson, T. M., Alekseev, A. E., Moreau, C., Liu, X. K., Zingman, L. V., Miki, T., Seino, S., Asirvatham, S. J., Jahangir, A., Terzic, A. <strong>K(ATP) channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.</strong> Nat. Clin. Pract. Cardiovasc. Med. 4: 110-116, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17245405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17245405</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17245405[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncpcardio0792" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17245405">Olson et al. (2007)</a> identified heterozygosity for a 4640C-T transition in exon 38 of the ABCC9 gene, resulting in a thr1547-to-ile (T1547I) substitution at a conserved residue in the C terminus. The patient's relatives declined clinical or genetic evaluation, but the mutation was not found in 2,000 unrelated and predominantly white controls. Patch-clamp analysis demonstrated that the T1547I mutation compromised adenine nucleotide-dependent induction of K(ATP) current. Mutant SUR2A that was coexpressed with the Kir6.2 (KCNJ11; <a href="/entry/600937">600937</a>) pore generated an aberrant channel that retained ATP-induced inhibition of potassium current, but showed a blunted response to ADP. In addition, Kir6.2-knockout mice developed AF in response to adrenergic stimulus, whereas wildtype mice remained in normal sinus rhythm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17245405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907208 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907208;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=rs387907208" 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=rs387907208" 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=RCV000024624 OR RCV000546897 OR RCV001270102 OR RCV001570693 OR RCV004545734" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024624, RCV000546897, RCV001270102, RCV001570693, RCV004545734" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024624...</a>
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<p>In 3 unrelated patients with hypertrichotic osteochondrodysplasia (Cantu syndrome; <a href="/entry/239850">239850</a>), <a href="#13" class="mim-tip-reference" title="van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., and 9 others. <strong>Cantu syndrome is caused by mutations in ABCC9.</strong> Am. J. Hum. Genet. 90: 1094-1101, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22608503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22608503</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22608503">van Bon et al. (2012)</a> identified heterozygosity for a de novo 3460C-T transition in exon 27 of the ABCC9 gene, resulting in an arg1154-to-trp (R1154W) substitution at a highly conserved residue in the second type 1 transmembrane domain (TMD2). The mutation was not found in any of the over 5,000 publicly available exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22608503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 5.5-year-old girl with Cantu syndrome, <a href="#5" class="mim-tip-reference" title="Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others. <strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong> Nature Genet. 44: 793-796, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22610116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22610116</a>] [<a href="https://doi.org/10.1038/ng.2324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22610116">Harakalova et al. (2012)</a> identified heterozygosity for a de novo R1154W mutation in ABCC9. The patient displayed the characteristic facies and generalized hypertrichosis of Cantu syndrome, associated with deep palmar/plantar creases, soft skin, a silvery shine to her hair, patent ductus arteriosus and foramen ovale, and a left ventricle that was at the upper limit of normal in size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22610116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907209 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907209;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907209?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907209" 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=rs387907209" 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=RCV000024625 OR RCV000256056 OR RCV000559460 OR RCV003335056" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024625, RCV000256056, RCV000559460, RCV003335056" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024625...</a>
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<p>In 5 patients from 3 families with Cantu syndrome (<a href="/entry/239850">239850</a>), including a mother and 2 daughters originally reported by <a href="#4" class="mim-tip-reference" title="Grange, D. K., Lorch, S. M., Cole, P. L., Singh, G. K. <strong>Cantu syndrome in a woman and her two daughters: further confirmation of autosomal dominant inheritance and review of the cardiac manifestation.</strong> Am. J. Med. Genet. 140A: 1673-1680, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16835932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16835932</a>] [<a href="https://doi.org/10.1002/ajmg.a.31348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16835932">Grange et al. (2006)</a>, <a href="#13" class="mim-tip-reference" title="van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., and 9 others. <strong>Cantu syndrome is caused by mutations in ABCC9.</strong> Am. J. Hum. Genet. 90: 1094-1101, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22608503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22608503</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22608503">van Bon et al. (2012)</a> identified heterozygosity for a 3461G-A transition in exon 27 of the ABCC9 gene, resulting in an arg1154-to-gln (R1154Q) substitution at a highly conserved residue in the second type 1 transmembrane domain (TMD2). The mutation was not found in any of the over 5,000 publicly available exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22608503+16835932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 15-month-old boy and an unrelated 20-year-old woman with Cantu syndrome, as well as a 21-year-old female patient previously reported by <a href="#11" class="mim-tip-reference" title="Scurr, I., Wilson, L., Lees, M., Robertson, S., Kirk, E., Turner, A., Morton, J., Kidd, A., Shashi, V., Stanley, C., Berry, M., Irvine, A. D., Goudie, D., Turner, C., Brewer, C., Smithson, S. <strong>Cantu syndrome: report of nine new cases and expansion of the phenotype.</strong> Am. J. Med. Genet. 155A: 508-518, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344641</a>] [<a href="https://doi.org/10.1002/ajmg.a.33885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21344641">Scurr et al. (2011)</a>, <a href="#5" class="mim-tip-reference" title="Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others. <strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong> Nature Genet. 44: 793-796, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22610116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22610116</a>] [<a href="https://doi.org/10.1038/ng.2324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22610116">Harakalova et al. (2012)</a> identified heterozygosity for the R1554Q mutation in ABCC9. Inside-out patch-clamp experiments in human embryonic kidney cells demonstrated that R1154Q mutant channels have reduced ATP sensitivity compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22610116+21344641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907210 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907210;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=rs387907210" 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=rs387907210" 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=RCV000024626" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024626" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024626</a>
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<p>In a 4.5-year-old girl with Cantu syndrome (<a href="/entry/239850">239850</a>), <a href="#13" class="mim-tip-reference" title="van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., and 9 others. <strong>Cantu syndrome is caused by mutations in ABCC9.</strong> Am. J. Hum. Genet. 90: 1094-1101, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22608503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22608503</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22608503">van Bon et al. (2012)</a> identified heterozygosity for a de novo 3128G-A transition in the ABCC9 gene, resulting in a cys1043-to-tyr (C1043Y) substitution in the second type 1 transmembrane domain (TMD2). The mutation was not found in any of the over 5,000 publicly available exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22608503" 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>.0007 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
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ABCC9, ALA478VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907211 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907211;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=rs387907211" 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=rs387907211" 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=RCV000024627" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024627" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024627</a>
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<p>In a father and daughter with Cantu syndrome (<a href="/entry/239850">239850</a>), <a href="#13" class="mim-tip-reference" title="van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., and 9 others. <strong>Cantu syndrome is caused by mutations in ABCC9.</strong> Am. J. Hum. Genet. 90: 1094-1101, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22608503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22608503</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22608503">van Bon et al. (2012)</a> identified heterozygosity for a 1433C-T transition in the ABCC9 gene, resulting in an ala478-to-val (A478V) substitution in the first type 1 transmembrane domain (TMD1). The mutation was not found in any of the over 5,000 publicly available exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22608503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
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ABCC9, ARG1116HIS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907227 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907227;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907227?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907227" 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=rs387907227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000029188 OR RCV001216671" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000029188, RCV001216671" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000029188...</a>
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<p>In a mother and son with Cantu syndrome (<a href="/entry/239850">239850</a>), <a href="#5" class="mim-tip-reference" title="Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others. <strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong> Nature Genet. 44: 793-796, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22610116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22610116</a>] [<a href="https://doi.org/10.1038/ng.2324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22610116">Harakalova et al. (2012)</a> identified heterozygosity for a 3347G-A transition in the ABCC9 gene, resulting in an arg1116-to-his (R1116H) substitution at a highly conserved residue in the second transmembrane domain. The mutation was not present in more than 5,000 publicly available whole-exome sequences. Inside-out patch-clamp experiments in human embryonic kidney cells demonstrated that R1116H mutant channels have reduced ATP sensitivity compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22610116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0009 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
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ABCC9, ARG1116CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907228 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907228;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=rs387907228" 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=rs387907228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000029189 OR RCV000809546 OR RCV001249678 OR RCV001699182 OR RCV002321487" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000029189, RCV000809546, RCV001249678, RCV001699182, RCV002321487" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000029189...</a>
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<p>In a 4-year-old boy with Cantu syndrome (<a href="/entry/239850">239850</a>), previously reported by <a href="#11" class="mim-tip-reference" title="Scurr, I., Wilson, L., Lees, M., Robertson, S., Kirk, E., Turner, A., Morton, J., Kidd, A., Shashi, V., Stanley, C., Berry, M., Irvine, A. D., Goudie, D., Turner, C., Brewer, C., Smithson, S. <strong>Cantu syndrome: report of nine new cases and expansion of the phenotype.</strong> Am. J. Med. Genet. 155A: 508-518, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344641</a>] [<a href="https://doi.org/10.1002/ajmg.a.33885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21344641">Scurr et al. (2011)</a>, <a href="#5" class="mim-tip-reference" title="Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others. <strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong> Nature Genet. 44: 793-796, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22610116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22610116</a>] [<a href="https://doi.org/10.1038/ng.2324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22610116">Harakalova et al. (2012)</a> identified heterozygosity for a 3346C-T transition in the ABCC9 gene, resulting in an arg1116-to-cys (R1116C) substitution at a highly conserved residue in the second transmembrane domain. The mutation was not present in more than 5,000 publicly available whole-exome sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22610116+21344641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
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ABCC9, SER1020PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907229 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907229;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=rs387907229" 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=rs387907229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000029190" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000029190" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000029190</a>
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<p>In a 12-year-old girl with Cantu syndrome (<a href="/entry/239850">239850</a>), originally reported by <a href="#10" class="mim-tip-reference" title="Robertson, S. P., Kirk, E., Bernier, F., Brereton, J., Turner, A., Bankier, A. <strong>Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome.</strong> Am. J. Med. Genet. 85: 395-402, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398267</a>]" pmid="10398267">Robertson et al. (1999)</a>, <a href="#5" class="mim-tip-reference" title="Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others. <strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong> Nature Genet. 44: 793-796, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22610116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22610116</a>] [<a href="https://doi.org/10.1038/ng.2324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22610116">Harakalova et al. (2012)</a> identified heterozygosity for a de novo 3058T-C transition in the ABCC9 gene, resulting in a ser1020-to-pro (S1020P) substitution at a highly conserved residue in the second transmembrane domain. The mutation was not present in more than 5,000 publicly available whole-exome sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10398267+22610116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
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</span>
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</h4>
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ABCC9, HIS60TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907230 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907230;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=rs387907230" 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=rs387907230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000029191" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000029191" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000029191</a>
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<p>In a 15-year-old girl with Cantu syndrome (<a href="/entry/239850">239850</a>), previously reported by <a href="#11" class="mim-tip-reference" title="Scurr, I., Wilson, L., Lees, M., Robertson, S., Kirk, E., Turner, A., Morton, J., Kidd, A., Shashi, V., Stanley, C., Berry, M., Irvine, A. D., Goudie, D., Turner, C., Brewer, C., Smithson, S. <strong>Cantu syndrome: report of nine new cases and expansion of the phenotype.</strong> Am. J. Med. Genet. 155A: 508-518, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344641</a>] [<a href="https://doi.org/10.1002/ajmg.a.33885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21344641">Scurr et al. (2011)</a>, <a href="#5" class="mim-tip-reference" title="Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others. <strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong> Nature Genet. 44: 793-796, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22610116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22610116</a>] [<a href="https://doi.org/10.1038/ng.2324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22610116">Harakalova et al. (2012)</a> identified heterozygosity for a 178C-T transition in the ABCC9 gene, resulting in a his60-to-tyr (H60Y) substitution at a highly conserved residue in transmembrane domain 0. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22610116+21344641" 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>.0012 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME</strong>
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ABCC9, IVS8DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs139620148 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139620148;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs139620148?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs139620148" 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=rs139620148" 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=RCV000253734 OR RCV000578802 OR RCV001820797 OR RCV001859471 OR RCV004529453" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000253734, RCV000578802, RCV001820797, RCV001859471, RCV004529453" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000253734...</a>
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<p>In 6 patients from 2 unrelated families from the same region of Northern Norway with probable Finnish ancestry with intellectual disability and myopathy syndrome (IDMYS; <a href="/entry/619719">619719</a>), <a href="#12" class="mim-tip-reference" title="Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. A. M., Hjellnes, H., Arntzen, K. A., Muller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., and 13 others. <strong>ABCC9-related intellectual disability myopathy syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.</strong> Nature Commun. 10: 4457, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31575858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31575858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31575858[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41467-019-12428-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31575858">Smeland et al. (2019)</a> identified a homozygous G-to-A transition (c.1320+1G-A, NM_020297.2) in the ABCC9 gene, resulting in a splicing defect and the in-frame deletion of exon 8 (Ala389_Gln440del) within the transmembrane 1 domain (TMD1). The mutation, which was found by targeted next-generation sequencing of a gene panel and confirmed by Sanger sequencing, segregated with the disorder in the families. The variant was present within a shared region of homozygosity. It was present in the heterozygous state in the gnomAD database with a frequency of 0.0007 in the Finnish population and 0.00004 among non-Finnish Europeans. It was absent in the Asian and African populations in gnomAD, and never observed in the homozygous state. In vitro functional expression assays in cells expressing the mutation showed about a 50% decrease in protein expression compared to controls, and complete loss of K(ATP) channel function, consistent with a loss of function. There was no evidence for a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31575858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.2337/diab.45.10.1439" target="_blank">Full Text</a>]
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Grange, D. K., Lorch, S. M., Cole, P. L., Singh, G. K.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16835932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16835932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16835932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31348" target="_blank">Full Text</a>]
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Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others.
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<strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong>
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Nature Genet. 44: 793-796, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22610116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22610116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22610116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23104009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23104009</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23104009[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=23104009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Olson, T. M., Alekseev, A. E., Moreau, C., Liu, X. K., Zingman, L. V., Miki, T., Seino, S., Asirvatham, S. J., Jahangir, A., Terzic, A.
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[<a href="https://doi.org/10.1038/ncpcardio0792" target="_blank">Full Text</a>]
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Robertson, S. P., Kirk, E., Bernier, F., Brereton, J., Turner, A., Bankier, A.
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<strong>Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10398267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10398267</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10398267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Scurr2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scurr, I., Wilson, L., Lees, M., Robertson, S., Kirk, E., Turner, A., Morton, J., Kidd, A., Shashi, V., Stanley, C., Berry, M., Irvine, A. D., Goudie, D., Turner, C., Brewer, C., Smithson, S.
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<strong>Cantu syndrome: report of nine new cases and expansion of the phenotype.</strong>
|
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Am. J. Med. Genet. 155A: 508-518, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21344641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33885" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Smeland2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. A. M., Hjellnes, H., Arntzen, K. A., Muller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., and 13 others.
|
|
<strong>ABCC9-related intellectual disability myopathy syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.</strong>
|
|
Nature Commun. 10: 4457, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31575858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31575858</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31575858[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=31575858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41467-019-12428-7" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="van Bon2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., and 9 others.
|
|
<strong>Cantu syndrome is caused by mutations in ABCC9.</strong>
|
|
Am. J. Hum. Genet. 90: 1094-1101, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22608503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22608503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22608503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.04.014" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 01/25/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/07/2013<br>Marla J. F. O'Neill - updated : 7/20/2012<br>Marla J. F. O'Neill - updated : 7/2/2012<br>Marla J. F. O'Neill - updated : 6/10/2011<br>Ada Hamosh - updated : 4/2/2004<br>Patricia A. Hartz - updated : 3/24/2004
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Perseveranda M. Cagas : 9/23/1996
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 01/26/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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ckniffin : 01/25/2022<br>carol : 01/21/2022<br>carol : 02/12/2020<br>alopez : 02/07/2013<br>carol : 7/20/2012<br>carol : 7/3/2012<br>terry : 7/2/2012<br>wwang : 6/17/2011<br>terry : 6/10/2011<br>carol : 9/4/2007<br>wwang : 2/22/2006<br>alopez : 4/5/2004<br>terry : 4/2/2004<br>mgross : 3/24/2004<br>carol : 11/10/1999<br>dkim : 12/10/1998<br>mark : 9/23/1996
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601439
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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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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SULFONYLUREA RECEPTOR 2; SUR2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ABCC9</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 239087008;
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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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<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: 12p12.1
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|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 12:21,797,389-21,941,426 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
|
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<th>
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|
Phenotype <br /> MIM number
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
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>
|
|
<td rowspan="4">
|
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<span class="mim-font">
|
|
12p12.1
|
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</span>
|
|
</td>
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|
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|
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<td>
|
|
<span class="mim-font">
|
|
?Atrial fibrillation, familial, 12
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614050
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Cardiomyopathy, dilated, 1O
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
608569
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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</tr>
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|
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Hypertrichotic osteochondrodysplasia (Cantu syndrome)
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
239850
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
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|
|
|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Intellectual disability and myopathy syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
619719
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The ABCC9 gene encodes a regulatory sulfonylurea receptor (SUR2) that coassembles with pore-forming subunits KCNJ8 (600935 and KCNJ11 (600937) to form nucleotide-gated potassium channels (summary by Smeland et al., 2019). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>ATP-sensitive potassium, or K(ATP), channels are characterized by inhibition of channel opening when the ATP concentration at the cytoplasmic cell surface is increased. Inagaki et al. (1996) noted that sulfonylureas, substances widely used as oral hypoglycemic agents in the treatment of noninsulin-dependent diabetes mellitus (NIDDM), have been shown to inhibit the activity of K(ATP) channels. A cDNA corresponding to SUR (600509), the high-affinity sulfonylurea receptor, was cloned by Aguilar-Bryan et al. (1995). Inagaki et al. (1995) showed that the pancreatic beta-cell K(ATP) channel consists of at least 2 subunits, BIR (600937) and SUR. An isoform of SUR, designated sulfonylurea receptor-2 (SUR2), was cloned by Inagaki et al. (1996) from a rat brain cDNA library. The 5,300-bp cDNA sequence encodes a polypeptide of 1,545 amino acids that shares 68% identity with SUR. Northern blot analysis showed that the tissue distribution of Sur2 is different from that of SUR. </p><p>Using rat Sur2 as probe, Chutkow et al. (1996) cloned SUR2 from a skeletal muscle cDNA library. Northern blot analysis detected 3 SUR2 transcripts of about 9.4, 7.6, and 5.6 kb, with the highest level of the longer transcript in heart and skeletal muscle. Little to no SUR2 expression was detected in other tissues examined. Chutkow et al. (1996) cloned 2 alternatively spliced mouse Sur2 cDNAs encoding deduced proteins of 1,512 and 1,547 amino acids, with calculated molecular masses of 170 and 174 kD, respectively. Mouse Sur2 has 13 transmembrane domains and intracellular Walker A and B ATP-binding domains. In contrast to the pattern of human SUR2 expression, mouse Sur2 was expressed ubiquitously as a 9.4-kb transcript. An 8.6-kb transcript was also detected at highest levels in skeletal muscle and heart and at lower levels in aorta and bladder. In situ hybridization of day-16.5 mouse embryos confirmed ubiquitous expression. </p><p>Smeland et al. (2019) noted that ABCC9 is alternatively spliced to yield 2 major isoforms, SUR2A and SUR2B. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By FISH, Chutkow et al. (1996) mapped the ABCC9 gene to chromosome 12p12.1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Inagaki et al. (1996) found that coexpression of rat Sur2 and BIR in COS-1 cells reconstituted the properties of K(ATP) channels described in cardiac and skeletal muscle. However, the Sur2/BIR channel was less sensitive than the SUR/BIR channel both to ATP and to the sulfonylurea glibenclamide. The Sur2/BIR channel was activated by the cardiac K(ATP) channel openers cromakalim and pinacidil, but not by diazoxide. The authors noted that the affinity of Sur2 for sulfonylureas was 500 times lower than that of SUR. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
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|
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Dilated Cardiomyopathy 10</em></strong></p><p>
|
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Bienengraeber et al. (2004) identified 2 mutations in exon 38 of the ABCC9 gene that resulted in dilated cardiomyopathy (CMD1O; 608569). A male who was diagnosed at age 55 and died from heart failure at age 60 had a frameshift mutation (601439.0001). A female who was diagnosed at age 40 had an ala1513-to-thr substitution (601439.0002). Her father was diagnosed at age 54 and died at age 55 of heart failure. All 3 individuals had ventricular tachycardia and normal coronary angiography. The C terminus of SUR proteins contributes to K(ATP) channel trafficking, and the frameshift and missense SUR2A mutants, reconstituted with Kir6.2 (600937), had reduced expression in the plasma membrane; yet, mutant K(ATP) channel complexes formed functional channels with intact pore properties. Structural molecular dynamics stimulation showed that residues ala1513 and leu1524 flank the C-terminal beta-strand in close proximity to the signature Walker A motif, required for coordination of nucleotides in the catalytic pocket of ATP-binding cassette proteins. Replacement of ala1513 with a sterically larger and more hydrophilic threonine residue or truncation of the C terminus caused by the frameshift would disrupt folding of the C-terminal beta-strand. ATP-induced K(ATP) channel gating was aberrant in both channel mutants, suggesting that structural alterations induced by the mutations distorted ATP-dependent pore regulation. </p><p><strong><em>Familial Atrial Fibrillation 12</em></strong></p><p>
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In a 53-year-old white woman with paroxysmal atrial fibrillation (ATFB12; 614050), Olson et al. (2007) sequenced cardiac ion channel genes and identified a heterozygous mutation in the ABCC9 gene (T1547I; 601439.0003). The authors stated that subsequent targeted screening for the T1547I ABCC9 mutation in an additional 154 patients with diverse presentations of AF indicated that this specific genetic substitution is not common. </p><p><strong><em>Hypertrichotic Osteochondrodysplasia</em></strong></p><p>
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In 11 of 14 patients from 10 families with hypertrichotic osteochondrodysplasia (Cantu syndrome; 239850), van Bon et al. (2012) identified heterozygosity for 4 different missense mutations in the ABCC9 gene (601439.0004-601439.0007). Van Bon et al. (2012) noted that previously reported mutations in ABCC9 associated with CMD10 occur in an exon that is only transcribed in the isoform SUR2A, showing high cardiac muscle expression, which may explain why that phenotype remains restricted to the heart. </p><p>In 14 of 16 patients with Cantu syndrome, Harakalova et al. (2012) identified heterozygosity for 11 different missense mutations in the ABCC9 gene (see, e.g., 601439.0004, 601439.0005, and 601439.0008-601439.0011). Except for 1 mother-son pair, the mutation was shown to have arisen de novo in all of the patients for whom parental DNA was available. All of the mutations involved highly conserved regions of the protein, and none was present in more than 5,000 publicly available whole-exome sequences. Electrophysiologic studies demonstrated that the mutant channels reduce ATP-mediated potassium channel inhibition, resulting in channel opening. </p><p><strong><em>Somatic Mutation in Cancer</em></strong></p><p>
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Le Gallo et al. (2012) used whole-exome sequencing to comprehensively search for somatic mutations in 13 primary serous endometrial tumors (see 608089), and subsequently resequenced 18 genes that were mutated in more than 1 tumor and/or were components of an enriched functional grouping from 40 additional serous tumors. Le Gallo et al. (2012) identified a high frequency (6%) of somatic mutation in the ABCC9 gene. </p><p><strong><em>Intellectual Disability And Myopathy Syndrome</em></strong></p><p>
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In 6 patients from 2 unrelated families from the same region of Northern Norway with probable Finnish ancestry with intellectual disability and myopathy syndrome (IDMYS; 619719), Smeland et al. (2019) identified a homozygous splice site mutation in the ABCC9 gene (601439.0012). The mutation, which was found by targeted next-generation sequencing of a gene panel and confirmed by Sanger sequencing, segregated with the disorder in the families. In vitro functional expression assays in cells expressing the mutation showed about a 50% decrease in protein expression compared to controls, and complete loss of K(ATP) channel function, consistent with a loss of function. There was no evidence for a dominant-negative effect. The authors postulated that some of the phenotypic features may be due to disrupted function of the gene in striated muscle, smooth muscle, and the cerebral vasculature. </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>Smeland et al. (2019) found that homozygous mice with a nonsense mutation in exon 8 of the Abcc9 gene showed progressively decreased motor performance due to fatigability, although sensorimotor function was normal. Older mutant mice developed cardiac abnormalities, including impaired left ventricular function, dilated cardiomyopathy, and hypertension. No abnormalities were observed in cognitive and behavioral tests. CRISPR/Cas9-mediated knockdown of the abcc9 gene in zebrafish resulted in decreased overall movements and decreased total swimming distance compared to controls, but they moved for a similar time period. Mutant zebrafish developed systolic dysfunction, reduced cardiac output, enlarged heart size, and increased velocity of red blood cells (possible hypertension) compared to controls. They also showed hypotelorism as an isolated dysmorphic feature; hypotelorism was not observed in the mutant mice. </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>12 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 CARDIOMYOPATHY, DILATED, 1O</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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ABCC9, 3-BP DEL, 4-BP INS, EX38
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<br />
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SNP: rs869025349,
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ClinVar: RCV000208420, RCV000449617, RCV000470248, RCV000601900, RCV000617732, RCV000786079
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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 55-year-old male with dilated cardiomyopathy with ventricular tachycardia (CMD1O; 608569), Bienengraeber et al. (2004) identified a complex mutation in the ABCC9 gene, a 3-bp deletion followed by a 4-bp insertion (4570-4572delTTAinsAAAT) causing a frameshift at leu1524 and introducing 4 anomalous terminal residues followed by a premature stop codon. The patient died at age 60 and had no family history of dilated cardiomyopathy. This mutation was not identified in 500 unrelated control individuals. </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 CARDIOMYOPATHY, DILATED, 1O</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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ABCC9, ALA1513THR
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<br />
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SNP: rs121909304,
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ClinVar: RCV000008640
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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 40-year-old woman with dilated cardiomyopathy with ventricular tachycardia (CMD1O; 608569), Bienengraeber et al. (2004) identified a G-to-A transition at nucleotide 4537 of the ABCC9 gene, resulting in an alanine-to-threonine substitution at codon 1513 (A1513T). The patient's father died at age 55 of heart failure. The mutation was not present in the patient's mother, suggesting inheritance from the affected father. This mutation was not identified in 500 unrelated control individuals. </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 ATRIAL FIBRILLATION, FAMILIAL, 12 (1 patient)</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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ABCC9, THR1547ILE
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<br />
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SNP: rs387906805,
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ClinVar: RCV000023103, RCV000769372, RCV001375633, RCV001852012
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 53-year-old white woman with paroxysmal atrial fibrillation (ATFB12; 614050), Olson et al. (2007) identified heterozygosity for a 4640C-T transition in exon 38 of the ABCC9 gene, resulting in a thr1547-to-ile (T1547I) substitution at a conserved residue in the C terminus. The patient's relatives declined clinical or genetic evaluation, but the mutation was not found in 2,000 unrelated and predominantly white controls. Patch-clamp analysis demonstrated that the T1547I mutation compromised adenine nucleotide-dependent induction of K(ATP) current. Mutant SUR2A that was coexpressed with the Kir6.2 (KCNJ11; 600937) pore generated an aberrant channel that retained ATP-induced inhibition of potassium current, but showed a blunted response to ADP. In addition, Kir6.2-knockout mice developed AF in response to adrenergic stimulus, whereas wildtype mice remained in normal sinus rhythm. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</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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ABCC9, ARG1154TRP
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<br />
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SNP: rs387907208,
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|
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ClinVar: RCV000024624, RCV000546897, RCV001270102, RCV001570693, RCV004545734
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated patients with hypertrichotic osteochondrodysplasia (Cantu syndrome; 239850), van Bon et al. (2012) identified heterozygosity for a de novo 3460C-T transition in exon 27 of the ABCC9 gene, resulting in an arg1154-to-trp (R1154W) substitution at a highly conserved residue in the second type 1 transmembrane domain (TMD2). The mutation was not found in any of the over 5,000 publicly available exomes. </p><p>In a 5.5-year-old girl with Cantu syndrome, Harakalova et al. (2012) identified heterozygosity for a de novo R1154W mutation in ABCC9. The patient displayed the characteristic facies and generalized hypertrichosis of Cantu syndrome, associated with deep palmar/plantar creases, soft skin, a silvery shine to her hair, patent ductus arteriosus and foramen ovale, and a left ventricle that was at the upper limit of normal in size. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ABCC9, ARG1154GLN
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|
<br />
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|
|
SNP: rs387907209,
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|
|
|
gnomAD: rs387907209,
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|
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ClinVar: RCV000024625, RCV000256056, RCV000559460, RCV003335056
|
|
|
|
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 patients from 3 families with Cantu syndrome (239850), including a mother and 2 daughters originally reported by Grange et al. (2006), van Bon et al. (2012) identified heterozygosity for a 3461G-A transition in exon 27 of the ABCC9 gene, resulting in an arg1154-to-gln (R1154Q) substitution at a highly conserved residue in the second type 1 transmembrane domain (TMD2). The mutation was not found in any of the over 5,000 publicly available exomes. </p><p>In a 15-month-old boy and an unrelated 20-year-old woman with Cantu syndrome, as well as a 21-year-old female patient previously reported by Scurr et al. (2011), Harakalova et al. (2012) identified heterozygosity for the R1554Q mutation in ABCC9. Inside-out patch-clamp experiments in human embryonic kidney cells demonstrated that R1154Q mutant channels have reduced ATP sensitivity compared to wildtype. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ABCC9, CYS1043TYR
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|
<br />
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|
|
SNP: rs387907210,
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|
|
ClinVar: RCV000024626
|
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</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4.5-year-old girl with Cantu syndrome (239850), van Bon et al. (2012) identified heterozygosity for a de novo 3128G-A transition in the ABCC9 gene, resulting in a cys1043-to-tyr (C1043Y) substitution in the second type 1 transmembrane domain (TMD2). The mutation was not found in any of the over 5,000 publicly available exomes. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
ABCC9, ALA478VAL
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<br />
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|
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SNP: rs387907211,
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|
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ClinVar: RCV000024627
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a father and daughter with Cantu syndrome (239850), van Bon et al. (2012) identified heterozygosity for a 1433C-T transition in the ABCC9 gene, resulting in an ala478-to-val (A478V) substitution in the first type 1 transmembrane domain (TMD1). The mutation was not found in any of the over 5,000 publicly available exomes. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</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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ABCC9, ARG1116HIS
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<br />
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|
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SNP: rs387907227,
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gnomAD: rs387907227,
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ClinVar: RCV000029188, RCV001216671
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a mother and son with Cantu syndrome (239850), Harakalova et al. (2012) identified heterozygosity for a 3347G-A transition in the ABCC9 gene, resulting in an arg1116-to-his (R1116H) substitution at a highly conserved residue in the second transmembrane domain. The mutation was not present in more than 5,000 publicly available whole-exome sequences. Inside-out patch-clamp experiments in human embryonic kidney cells demonstrated that R1116H mutant channels have reduced ATP sensitivity compared to wildtype. </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>.0009 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</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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ABCC9, ARG1116CYS
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<br />
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SNP: rs387907228,
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ClinVar: RCV000029189, RCV000809546, RCV001249678, RCV001699182, RCV002321487
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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 4-year-old boy with Cantu syndrome (239850), previously reported by Scurr et al. (2011), Harakalova et al. (2012) identified heterozygosity for a 3346C-T transition in the ABCC9 gene, resulting in an arg1116-to-cys (R1116C) substitution at a highly conserved residue in the second transmembrane domain. The mutation was not present in more than 5,000 publicly available whole-exome sequences. </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>.0010 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</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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ABCC9, SER1020PRO
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<br />
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SNP: rs387907229,
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ClinVar: RCV000029190
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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 12-year-old girl with Cantu syndrome (239850), originally reported by Robertson et al. (1999), Harakalova et al. (2012) identified heterozygosity for a de novo 3058T-C transition in the ABCC9 gene, resulting in a ser1020-to-pro (S1020P) substitution at a highly conserved residue in the second transmembrane domain. The mutation was not present in more than 5,000 publicly available whole-exome sequences. </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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<span class="mim-font">
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<strong>.0011 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA</strong>
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ABCC9, HIS60TYR
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<br />
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SNP: rs387907230,
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ClinVar: RCV000029191
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<p>In a 15-year-old girl with Cantu syndrome (239850), previously reported by Scurr et al. (2011), Harakalova et al. (2012) identified heterozygosity for a 178C-T transition in the ABCC9 gene, resulting in a his60-to-tyr (H60Y) substitution at a highly conserved residue in transmembrane domain 0. </p>
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<span class="mim-font">
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<strong>.0012 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME</strong>
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<span class="mim-text-font">
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ABCC9, IVS8DS, G-A, +1
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<br />
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SNP: rs139620148,
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gnomAD: rs139620148,
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ClinVar: RCV000253734, RCV000578802, RCV001820797, RCV001859471, RCV004529453
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<p>In 6 patients from 2 unrelated families from the same region of Northern Norway with probable Finnish ancestry with intellectual disability and myopathy syndrome (IDMYS; 619719), Smeland et al. (2019) identified a homozygous G-to-A transition (c.1320+1G-A, NM_020297.2) in the ABCC9 gene, resulting in a splicing defect and the in-frame deletion of exon 8 (Ala389_Gln440del) within the transmembrane 1 domain (TMD1). The mutation, which was found by targeted next-generation sequencing of a gene panel and confirmed by Sanger sequencing, segregated with the disorder in the families. The variant was present within a shared region of homozygosity. It was present in the heterozygous state in the gnomAD database with a frequency of 0.0007 in the Finnish population and 0.00004 among non-Finnish Europeans. It was absent in the Asian and African populations in gnomAD, and never observed in the homozygous state. In vitro functional expression assays in cells expressing the mutation showed about a 50% decrease in protein expression compared to controls, and complete loss of K(ATP) channel function, consistent with a loss of function. There was no evidence for a dominant-negative effect. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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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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Aguilar-Bryan, L., Nichols, C. G., Wechsler, S. W., Clement, J. P., IV, Boyd, A. E., III, Gonzalez, G., Herrera-Sosa, H., Nguy, K., Bryan, J., Nelson, D. A.
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<strong>Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion.</strong>
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Science 268: 423-426, 1995.
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[PubMed: 7716547]
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[Full Text: https://doi.org/10.1126/science.7716547]
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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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Bienengraeber, M., Olson, T. M., Selivanov, V. A., Kathmann, E. C., O'Cochlain, F., Gao, F., Karger, A. B., Ballew, J. D., Hodgson, D. M., Zingman, L. V., Pang, Y.-P., Alekseev, A. E., Terzic, A.
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<strong>ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating.</strong>
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Nature Genet. 36: 382-387, 2004.
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[PubMed: 15034580]
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[Full Text: https://doi.org/10.1038/ng1329]
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</li>
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<li>
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<p class="mim-text-font">
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Chutkow, W. A., Simon, M. C., Le Beau, M. M., Burant, C. F.
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<strong>Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular K-ATP channels.</strong>
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Diabetes 45: 1439-1445, 1996.
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[PubMed: 8826984]
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[Full Text: https://doi.org/10.2337/diab.45.10.1439]
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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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Grange, D. K., Lorch, S. M., Cole, P. L., Singh, G. K.
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<strong>Cantu syndrome in a woman and her two daughters: further confirmation of autosomal dominant inheritance and review of the cardiac manifestation.</strong>
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Am. J. Med. Genet. 140A: 1673-1680, 2006.
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[PubMed: 16835932]
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[Full Text: https://doi.org/10.1002/ajmg.a.31348]
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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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Harakalova, M., van Harssel, J. J. T., Terhal, P. A., van Lieshout, S., Duran, K., Renkens, I., Amor, D. J., Wilson, L. C., Kirk, E. P., Turner, C. L. S., Shears, D., Garcia-Minaur, S., and 19 others.
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<strong>Dominant missense mutations in ABCC9 cause Cantu syndrome.</strong>
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Nature Genet. 44: 793-796, 2012.
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[PubMed: 22610116]
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[Full Text: https://doi.org/10.1038/ng.2324]
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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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Inagaki, N., Gonoi, T., Clement, J. P., IV., Namba, N., Inazawa, J., Gonzalez, G., Aguilar-Bryan, L., Seino, S., Bryan, J.
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<strong>Reconstitution of I(KATP): an inward rectifier subunit plus the sulfonylurea receptor.</strong>
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Science 270: 1166-1169, 1995.
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[PubMed: 7502040]
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[Full Text: https://doi.org/10.1126/science.270.5239.1166]
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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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Inagaki, N., Gonoi, T., Clement, J. P., IV, Wang, C.-Z., Aguilar-Bryan, L., Bryan, J., Seino, S.
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<strong>A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K(+) channels.</strong>
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Neuron 16: 1011-1017, 1996.
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[PubMed: 8630239]
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[Full Text: https://doi.org/10.1016/s0896-6273(00)80124-5]
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</p>
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<li>
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<p class="mim-text-font">
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Le Gallo, M., O'Hara, A. J., Rudd, M. L., Urick, M. E., Hansen, N. F., O'Neil, N. J., Price, J. C., Zhang, S., England, B. M., Godwin, A. K., Sgroi, D. C., NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program, Hieter, P., Mullikan, J. C., Merino, M. J., Bell, D. W.
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<strong>Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.</strong>
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Nature Genet. 44: 1310-1315, 2012.
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[PubMed: 23104009]
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[Full Text: https://doi.org/10.1038/ng.2455]
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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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Olson, T. M., Alekseev, A. E., Moreau, C., Liu, X. K., Zingman, L. V., Miki, T., Seino, S., Asirvatham, S. J., Jahangir, A., Terzic, A.
|
|
<strong>K(ATP) channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.</strong>
|
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Nat. Clin. Pract. Cardiovasc. Med. 4: 110-116, 2007.
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[PubMed: 17245405]
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[Full Text: https://doi.org/10.1038/ncpcardio0792]
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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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Robertson, S. P., Kirk, E., Bernier, F., Brereton, J., Turner, A., Bankier, A.
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<strong>Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome.</strong>
|
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Am. J. Med. Genet. 85: 395-402, 1999.
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[PubMed: 10398267]
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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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Scurr, I., Wilson, L., Lees, M., Robertson, S., Kirk, E., Turner, A., Morton, J., Kidd, A., Shashi, V., Stanley, C., Berry, M., Irvine, A. D., Goudie, D., Turner, C., Brewer, C., Smithson, S.
|
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<strong>Cantu syndrome: report of nine new cases and expansion of the phenotype.</strong>
|
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Am. J. Med. Genet. 155A: 508-518, 2011.
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[PubMed: 21344641]
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[Full Text: https://doi.org/10.1002/ajmg.a.33885]
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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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Smeland, M. F., McClenaghan, C., Roessler, H. I., Savelberg, S., Hansen, G. A. M., Hjellnes, H., Arntzen, K. A., Muller, K. I., Dybesland, A. R., Harter, T., Sala-Rabanal, M., Emfinger, C. H., and 13 others.
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<strong>ABCC9-related intellectual disability myopathy syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.</strong>
|
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Nature Commun. 10: 4457, 2019.
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[PubMed: 31575858]
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[Full Text: https://doi.org/10.1038/s41467-019-12428-7]
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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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van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., and 9 others.
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<strong>Cantu syndrome is caused by mutations in ABCC9.</strong>
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Am. J. Hum. Genet. 90: 1094-1101, 2012.
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[PubMed: 22608503]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.04.014]
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<br />
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 01/25/2022<br>Ada Hamosh - updated : 02/07/2013<br>Marla J. F. O'Neill - updated : 7/20/2012<br>Marla J. F. O'Neill - updated : 7/2/2012<br>Marla J. F. O'Neill - updated : 6/10/2011<br>Ada Hamosh - updated : 4/2/2004<br>Patricia A. Hartz - updated : 3/24/2004
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<span class="mim-text-font">
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Perseveranda M. Cagas : 9/23/1996
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alopez : 01/26/2022<br>ckniffin : 01/25/2022<br>carol : 01/21/2022<br>carol : 02/12/2020<br>alopez : 02/07/2013<br>carol : 7/20/2012<br>carol : 7/3/2012<br>terry : 7/2/2012<br>wwang : 6/17/2011<br>terry : 6/10/2011<br>carol : 9/4/2007<br>wwang : 2/22/2006<br>alopez : 4/5/2004<br>terry : 4/2/2004<br>mgross : 3/24/2004<br>carol : 11/10/1999<br>dkim : 12/10/1998<br>mark : 9/23/1996
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</div>
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</body>
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</html>
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