3046 lines
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- *600935 - POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8
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- OMIM
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<p>
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<span class="h4">*600935</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600935">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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 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 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=ENSG00000121361;t=ENST00000240662" 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=3764" 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=600935" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000121361;t=ENST00000240662" 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_004982" 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_004982" 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=600935" 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=02962&isoform_id=02962_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/KCNJ8" 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/1109634,1805596,2493600,4826802,12653543,119616856,119616857,158257074" 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/Q15842" 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=3764" 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=ENSG00000121361;t=ENST00000240662" 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=KCNJ8" 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=KCNJ8" 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+3764" 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/KCNJ8" 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:3764" 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/3764" 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=ENST00000240662.3&hgg_start=21764955&hgg_end=21774706&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:6269" 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=600935[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 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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<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=600935[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000121361" 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.gwascentral.org/search?q=KCNJ8" 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=KCNJ8" 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=KCNJ8&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/PA30050" 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 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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<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:6269" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1100508" 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/KCNJ8#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:1100508" 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/3764/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3764" 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-060308-1" 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 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="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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</a>
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3764" 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=KCNJ8&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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<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 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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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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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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600935
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<div>
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<h4>
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<span class="mim-font">
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INWARDLY RECTIFYING POTASSIUM CHANNEL Kir6.1
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<br />
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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=KCNJ8" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KCNJ8</a></em></strong>
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</span>
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</p>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/12/229?start=-3&limit=10&highlight=229">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=chr12:21764955-21774706&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'})">12:21,764,955-21,774,706</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<br />
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p><a href="#10" class="mim-tip-reference" title="Inagaki, N., Tsuura, Y., Namba, N., Masuda, K., Gonoi, T., Horie, M., Seino, Y., Mizuta, M., Seino, S. <strong>Cloning and functional characterization of a novel ATP-sensitive potassium channel ubiquitously expressed in rat tissues, including pancreatic islets, pituitary, skeletal muscle, and heart.</strong> J. Biol. Chem. 270: 5691-5694, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7890693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7890693</a>] [<a href="https://doi.org/10.1074/jbc.270.11.5691" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7890693">Inagaki et al. (1995)</a> isolated a cDNA from a rat pancreatic islet cell library that encodes a member of the inward rectifier potassium channel family. The predicted 424-amino acid protein, which they designated uKATP-1, has 2 transmembrane domains and shares 43 to 46% identity with other inward rectifier potassium channels, including ROMK1 (<a href="/entry/600359">600359</a>), IRK1 (<a href="/entry/600681">600681</a>), GIRK1 (<a href="/entry/601534">601534</a>), and cKATP-1 (<a href="/entry/600734">600734</a>). When the protein was expressed in Xenopus oocytes, a weak rectifier activity was demonstrated that was blocked with Ba(+2) and activated by diazoxide. Northern blots showed that the mRNA is widely expressed in various tissues of the rat. <a href="#9" class="mim-tip-reference" title="Inagaki, N., Inazawa, J., Seino, S. <strong>cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uK(ATP)-1, gene (KCNJ8).</strong> Genomics 30: 102-104, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595887</a>] [<a href="https://doi.org/10.1006/geno.1995.0018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595887">Inagaki et al. (1995)</a> cloned the human gene, designated KCNJ8. The predicted human protein is 98% identical to that of the rat. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8595887+7890693" 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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<br />
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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<span class="mim-text-font">
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<p><a href="#9" class="mim-tip-reference" title="Inagaki, N., Inazawa, J., Seino, S. <strong>cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uK(ATP)-1, gene (KCNJ8).</strong> Genomics 30: 102-104, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595887</a>] [<a href="https://doi.org/10.1006/geno.1995.0018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595887">Inagaki et al. (1995)</a> showed that the KCNJ8 gene contains 3 exons spanning approximately 10 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595887" 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="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<p><a href="#9" class="mim-tip-reference" title="Inagaki, N., Inazawa, J., Seino, S. <strong>cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uK(ATP)-1, gene (KCNJ8).</strong> Genomics 30: 102-104, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595887</a>] [<a href="https://doi.org/10.1006/geno.1995.0018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8595887">Inagaki et al. (1995)</a> mapped the KCNJ8 gene to 12p11.23 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595887" 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>See <a href="#0001">600935.0001</a> for discussion of a possible association between variation in the KCNJ8 gene and Brugada syndrome (see <a href="/entry/601144">601144</a>) or ventricular fibrillation with early repolarization (see <a href="/entry/613601">613601</a>).</p><p>For discussion of a possible association between Cantu syndrome (see <a href="/entry/239850">239850</a>) and variation in the KCNJ8 gene, see <a href="#0002">600935.0002</a> and <a href="#0003">600935.0003</a>.</p>
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<p><a href="#13" class="mim-tip-reference" title="Miki, T., Suzuki, M., Shibasaki, T., Uemura, H., Sato, T., Yamaguchi, K., Koseki, H., Iwanaga, T., Nakaya, H., Seino, S. <strong>Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1.</strong> Nature Med. 8: 466-472, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11984590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11984590</a>] [<a href="https://doi.org/10.1038/nm0502-466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11984590">Miki et al. (2002)</a> found that mice lacking the Kir6.1 gene had a high rate of sudden death associated with spontaneous ST elevation followed by atrioventricular block, as seen on the electrocardiogram. The potassium channel opener pinacidil did not induce potassium channels in vascular smooth muscle cells of Kir6.1-null mice, and there was no vasodilation response to pinacidil. Administration of methylergometrine, a vasoconstrictive agent, elicited ST elevation followed by cardiac death in Kir6.1-null mice but not in wildtype mice, indicating a phenotype characterized by hypercontractility of coronary arteries and resembling Prinzmetal (or variant) angina in humans (<a href="#14" class="mim-tip-reference" title="Prinzmetal, M., Kennamer, R., Merliss, R., Wada, T., Bor, N. <strong>Angina pectoris. 1. A variant form of angina pectoris: preliminary report.</strong> Am. J. Med. 27: 375-388, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14434946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14434946</a>] [<a href="https://doi.org/10.1016/0002-9343(59)90003-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14434946">Prinzmetal et al., 1959</a>). Prinzmetal angina occurs exclusively at rest and is associated with elevation of ST segments on EKG during the attack. Although the attack disappears spontaneously in most cases, it can lead to myocardial infarction, severe AV block, life-threatening ventricular tachycardia, and sudden death if the coronary vasospasm is prolonged (<a href="#11" class="mim-tip-reference" title="MacAlpin, R. N. <strong>Cardiac arrest and sudden unexpected death in variant angina: complications of coronary spasm that can occur in the absence of severe organic coronary stenosis.</strong> Am. Heart J. 125: 1011-1017, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465723</a>] [<a href="https://doi.org/10.1016/0002-8703(93)90108-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8465723">MacAlpin, 1993</a>). The elevated ST segments on EKG during the attack are diagnostic, as is induction of coronary spasm by ergot alkaloids or acetylcholine. Vasospastic angina is more common in Japanese than in Caucasians (<a href="#2" class="mim-tip-reference" title="Beltrame, J. F., Sasayama, S., Maseri, A. <strong>Racial heterogeneity in coronary artery vasomotor reactivity: differences between Japanese and Caucasian patients.</strong> J. Am. Coll. Cardiol. 33: 1442-1452, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10334407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10334407</a>] [<a href="https://doi.org/10.1016/s0735-1097(99)00073-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10334407">Beltrame et al., 1999</a>; <a href="#15" class="mim-tip-reference" title="Pristipino, C., Beltrame, J. F., Finocchiaro, M. L., Hattori, R., Fujita, M., Mongiardo, R., Cianflone, D., Sanna, T., Sasayama, S., Maseri, A. <strong>Major racial differences in coronary constrictor response between Japanese and Caucasians with recent myocardial infarction.</strong> Circulation 101: 1102-1108, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10715255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10715255</a>] [<a href="https://doi.org/10.1161/01.cir.101.10.1102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10715255">Pristipino et al., 2000</a>). <a href="#13" class="mim-tip-reference" title="Miki, T., Suzuki, M., Shibasaki, T., Uemura, H., Sato, T., Yamaguchi, K., Koseki, H., Iwanaga, T., Nakaya, H., Seino, S. <strong>Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1.</strong> Nature Med. 8: 466-472, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11984590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11984590</a>] [<a href="https://doi.org/10.1038/nm0502-466" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11984590">Miki et al. (2002)</a> concluded that the Kir6.1-containing potassium channel is critical in the regulation of vascular tone, especially in the coronary arteries, and its disruption may cause Prinzmetal angina. They suggested that it will be important to learn whether genetic differences in the KIR6.1 gene are associated with Prinzmetal angina in various populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11984590+14434946+8465723+10715255+10334407" 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>From a screen of N-ethyl-N-nitrosourea (ENU)-mutagenized mice, <a href="#5" class="mim-tip-reference" title="Croker, B., Crozat, K., Berger, M., Xia, Y., Sovath, S., Schaffer, L., Eleftherianos, I., Imler, J.-L., Beutler, B. <strong>ATP-sensitive potassium channels mediate survival during infection in mammals and insects.</strong> Nature Genet. 39: 1453-1460, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18026101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18026101</a>] [<a href="https://doi.org/10.1038/ng.2007.25" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18026101">Croker et al. (2007)</a> identified a mutation causing both profound susceptibility to infection by mouse cytomegalovirus and a sensitization of approximately 20,000-fold to lipopolysaccharide, poly(I.C), and immunostimulatory (CpG) DNA. The LPS hypersensitivity phenotype was not suppressed by mutations in other genes contributing to LPS responses, and resulted from an abnormality extrinsic to hematopoietic cells. The phenotype was due to a null allele of Kcnj8, encoding Kir6.1, a protein that combines with SUR2 (<a href="/entry/601439">601439</a>) to form an ATP-sensitive potassium channel expressed in coronary artery smooth muscle and endothelial cells. In Drosophila melanogaster, <a href="#5" class="mim-tip-reference" title="Croker, B., Crozat, K., Berger, M., Xia, Y., Sovath, S., Schaffer, L., Eleftherianos, I., Imler, J.-L., Beutler, B. <strong>ATP-sensitive potassium channels mediate survival during infection in mammals and insects.</strong> Nature Genet. 39: 1453-1460, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18026101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18026101</a>] [<a href="https://doi.org/10.1038/ng.2007.25" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18026101">Croker et al. (2007)</a> found that suppression of dSUR by RNA interference similarly caused hypersensitivity to infection by flock house virus. Thus, K(ATP) evolved to serve a homeostatic function during infection, an in mammals it prevents coronary artery vasoconstriction induced by cytokines dependent on Toll-like receptor (TLR; see <a href="/entry/601194">601194</a>) and/or MDA5 (<a href="/entry/606951">606951</a>) immunoreceptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18026101" 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> rs72554071 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72554071;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/rs72554071?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=rs72554071" 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=rs72554071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant is classified as a variant of unknown significance because its contribution to Brugada syndrome (see <a href="/entry/601144">601144</a>) or to ventricular fibrillation with early repolarization (see <a href="/entry/613601">613601</a>) has not been confirmed. See <a href="#17" class="mim-tip-reference" title="Veeramah, K. R., Karafet, T. M., Wolf, D., Samson, R. A., Hammer, M. F. <strong>The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.</strong> Europ. J. Hum. Genet. 22: 94-98, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23632791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23632791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23632791[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/ejhg.2013.78" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23632791">Veeramah et al. (2014)</a> and <a href="#4" class="mim-tip-reference" title="Cooper, P. E., Reutter, H., Woelfle, J., Engels, H., Grange, D. K., van Haaften, G., van Bon, B. W., Hoischen, A., Nichols, C. G. <strong>Cantu syndrome resulting from activating mutation in the KCNJ8 gene.</strong> Hum. Mutat. 35: 809-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24700710[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/10.1002/humu.22555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700710">Cooper et al. (2014)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24700710+23632791" 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 14-year-old girl with recurrent episodes of ventricular fibrillation (VF) and prominent early repolarization, <a href="#8" class="mim-tip-reference" title="Haissaguerre, M., Chatel, S., Sacher, F., Weerasooriya, R., Probst, V., Loussouarn, G., Horlitz, M., Liersch, R., Schulze-Bahr, E., Wilde, A., Kaab, S., Koster, J., Rudy, Y., Le Marec, H., Schott, J. J. <strong>Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/K(ATP) channel.</strong> J. Cardiovasc. Electrophysiol. 20: 93-98, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19120683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19120683</a>] [<a href="https://doi.org/10.1111/j.1540-8167.2008.01326.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19120683">Haissaguerre et al. (2009)</a> analyzed 21 cardiac ion channel-associated genes and identified heterozygosity for a c.1265C-T transition in exon 3 of the KCNJ8 gene, resulting in a ser422-to-leu (S422L) substitution at a highly conserved residue. Flecainide challenge in the proband did not unmask a Brugada pattern on electrocardiography (ECG). The mutation was not found in her unaffected mother or in 764 control alleles; her father did not consent to clinical or genetic testing. The KCNJ8 S422L variant was not detected in 156 additional VF patients with early repolarization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19120683" 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="Medeiros-Domingo, A., Tan, B.-H., Crotti, L., Tester, D. J., Eckhardt, L., Cuoretti, A., Kroboth, S. L., Song, C., Zhou, Q., Kopp, D., Schwartz, P. J., Makielski, J. C., Ackerman, M. J. <strong>Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.</strong> Heart Rhythm 7: 1466-1471, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20558321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20558321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20558321[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.hrthm.2010.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20558321">Medeiros-Domingo et al. (2010)</a> sequenced the KCNJ8 gene in 87 patients with Brugada syndrome and 14 with early repolarization syndrome and identified heterozygosity for the S422L mutation in 2 patients: one was a 30-year-old man diagnosed with Brugada syndrome; the other was a 21-year-old man with a history of syncope and ventricular tachycardia who had an early repolarization pattern on ECG, in whom no drug challenge to unmask a Brugada pattern was reported. The mutation was not found in 1,200 control alleles (p = 0.02). Voltage-clamp studies in COS-1 cells showed a 60 to 67% increase in K(ATP) current density with the S422L mutant compared to wildtype, indicating a marked gain of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20558321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Barajas-Martinez, H., Hu, D., Ferrer, T., Onetti, C. G., Wu, Y., Burashnikov, E., Boyle, M., Surman, T., Urrutia, J., Veltmann, C., Schimpf, R., Borggrefe, M., Wolpert, C., Ibrahim, B. B., Sanchez-Chapula, J. A., Winters, S., Haissaguerre, M., Antzelevitch, C. <strong>Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.</strong> Heart Rhythm 9: 548-555, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22056721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22056721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22056721[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.hrthm.2011.10.035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22056721">Barajas-Martinez et al. (2012)</a> sequenced the KCNJ8 gene in 204 patients with what they designated 'J-wave syndromes,' encompassing Brugada syndrome and 'early repolarization syndrome.' They identified the S422L mutation in 3 unrelated male patients with Brugada syndrome and confirmed the mutation in the female patient with VF and early repolarization who was originally studied by <a href="#8" class="mim-tip-reference" title="Haissaguerre, M., Chatel, S., Sacher, F., Weerasooriya, R., Probst, V., Loussouarn, G., Horlitz, M., Liersch, R., Schulze-Bahr, E., Wilde, A., Kaab, S., Koster, J., Rudy, Y., Le Marec, H., Schott, J. J. <strong>Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/K(ATP) channel.</strong> J. Cardiovasc. Electrophysiol. 20: 93-98, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19120683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19120683</a>] [<a href="https://doi.org/10.1111/j.1540-8167.2008.01326.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19120683">Haissaguerre et al. (2009)</a>. The S422L mutation, which was not found in 430 control alleles, was also detected in the affected mother of 1 of the male probands; both patients exhibited atrial fibrillation and first-degree atrioventricular block. The 5 patients with the S422L mutation were also screened for variants in 22 known Brugada syndrome- or early repolarization-associated genes; heterozygosity for a D601E polymorphism in the CACNB2 gene (<a href="/entry/600003">600003</a>) was detected in the mother and son with Brugada syndrome and in the female patient with VF and early repolarization. Whole-cell patch-clamp studies demonstrated a 2-fold gain of function with the S422L KCNJ8 mutation compared to wildtype; in addition, at physiologic levels of intracellular ATP, wildtype channels were totally inhibited, whereas mutant channels remained partially open. <a href="#1" class="mim-tip-reference" title="Barajas-Martinez, H., Hu, D., Ferrer, T., Onetti, C. G., Wu, Y., Burashnikov, E., Boyle, M., Surman, T., Urrutia, J., Veltmann, C., Schimpf, R., Borggrefe, M., Wolpert, C., Ibrahim, B. B., Sanchez-Chapula, J. A., Winters, S., Haissaguerre, M., Antzelevitch, C. <strong>Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.</strong> Heart Rhythm 9: 548-555, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22056721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22056721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22056721[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.hrthm.2011.10.035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22056721">Barajas-Martinez et al. (2012)</a> concluded that KCNJ8 is a susceptibility gene for both Brugada and early repolarization syndromes, and suggested that S422L might be a hotspot mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19120683+22056721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Crotti, L., Marcou, C. A., Tester, D. J., Castelletti, S., Giudicessi, J. R., Torchio, M., Medeiros-Domingo, A., Simone, S., Will, M. L., Dagradi, F., Schwartz, P. J., Ackerman, M. J. <strong>Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.</strong> J. Am. Coll. Cardiol. 60: 1410-1418, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22840528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22840528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22840528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.jacc.2012.04.037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22840528">Crotti et al. (2012)</a> analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome. In an asymptomatic 30-year-old man with a type 1 Brugada syndrome ECG pattern, they identified heterozygosity for the S422L mutation in the KCNJ8 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22840528" 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 an Ashkenazi Jewish family quartet in which the female proband died from early infantile epileptic encephalopathy (EIEE13; <a href="/entry/614558">614558</a>) due to a mutation in the SCN8A gene (<a href="/entry/600702#0002">600702.0002</a>), <a href="#17" class="mim-tip-reference" title="Veeramah, K. R., Karafet, T. M., Wolf, D., Samson, R. A., Hammer, M. F. <strong>The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.</strong> Europ. J. Hum. Genet. 22: 94-98, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23632791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23632791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23632791[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/ejhg.2013.78" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23632791">Veeramah et al. (2014)</a> reexamined the results from whole-genome sequencing performed by <a href="#18" class="mim-tip-reference" title="Veeramah, K. R., O'Brien, J. E., Meisler, M. H., Cheng, X., Dib-Hajj, S. D., Waxman, S. G., Talwar, D., Girirajan, S., Eichler, E. E., Restifo, L. L., Erickson, R. P., Hammer, M. F. <strong>De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.</strong> Am. J. Hum. Genet. 90: 502-512, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22365152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22365152</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22365152[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22365152">Veeramah et al. (2012)</a>. The authors found that the unaffected parents as well as the deceased proband were heterozygous for the S422L mutation in the KCNJ8 gene, whereas the proband's healthy 12-year-old brother was homozygous for S422L. Serial ECGs in the S422L homozygote showed no clinically significant abnormalities, whereas his heterozygous father showed subtle J-point elevation. <a href="#17" class="mim-tip-reference" title="Veeramah, K. R., Karafet, T. M., Wolf, D., Samson, R. A., Hammer, M. F. <strong>The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.</strong> Europ. J. Hum. Genet. 22: 94-98, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23632791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23632791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23632791[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/ejhg.2013.78" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23632791">Veeramah et al. (2014)</a> genotyped the S422L variant in a panel of 722 individuals from 22 European, Middle Eastern non-Jewish, Ashkenazi Jewish, and non-Ashkenazi Jewish populations and found that the S422L allele was present at a significantly higher frequency in Ashkenazi Jews (approximately 4%) than in other populations, which had frequencies less than 0.25%. <a href="#17" class="mim-tip-reference" title="Veeramah, K. R., Karafet, T. M., Wolf, D., Samson, R. A., Hammer, M. F. <strong>The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.</strong> Europ. J. Hum. Genet. 22: 94-98, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23632791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23632791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23632791[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/ejhg.2013.78" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23632791">Veeramah et al. (2014)</a> suggested that either previous studies implicating S422L as pathogenic for J-wave syndromes failed to account for European population structure and that the variant was likely benign, or that Ashkenazi Jews might be at significantly increased risk of J-wave syndromes and ultimately sudden cardiac death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22365152+23632791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Cooper, P. E., Reutter, H., Woelfle, J., Engels, H., Grange, D. K., van Haaften, G., van Bon, B. W., Hoischen, A., Nichols, C. G. <strong>Cantu syndrome resulting from activating mutation in the KCNJ8 gene.</strong> Hum. Mutat. 35: 809-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24700710[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/10.1002/humu.22555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700710">Cooper et al. (2014)</a> performed functional analysis of the S422L mutant in recombinant COS cells and observed similar activity to that seen with wildtype KCNJ8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700710" 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">rs606231263 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231263;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=rs606231263" 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=rs606231263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant is classified as a variant of unknown significance because its contribution to Cantu syndrome (see <a href="/entry/239850">239850</a>) has not been confirmed.</p><p>By whole-genome analysis in a 6-year-old boy with Cantu syndrome who was negative for mutation in the ABCC9 gene (<a href="/entry/601439">601439</a>), <a href="#3" class="mim-tip-reference" title="Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B., Beggs, A. H. <strong>Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities: support for the role of K(ATP) channels in this condition.</strong> Europ. J. Med. Genet. 56: 678-682, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24176758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24176758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24176758[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ejmg.2013.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24176758">Brownstein et al. (2013)</a> identified heterozygosity for a de novo c.193G-A transition in exon 1 of the KCNJ8 gene, resulting in a val65-to-met (V65M) substitution at a highly conserved residue within the amino terminus. No functional analysis of the V65M mutant was reported. Although the patient had no abnormalities on ECG, he did exhibit vascular features previously unreported in Cantu syndrome, including a dilated aortic root, dilated hepatic and celiac arteries, dilated and tortuous intrahepatic arteries and veins, tortuous cerebral arteries, and multiple venous defects in the brain. <a href="#3" class="mim-tip-reference" title="Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B., Beggs, A. H. <strong>Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities: support for the role of K(ATP) channels in this condition.</strong> Europ. J. Med. Genet. 56: 678-682, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24176758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24176758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24176758[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ejmg.2013.09.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24176758">Brownstein et al. (2013)</a> also detected compound heterozygous missense variants in the EOMES gene (<a href="/entry/604615">604615</a>) in the proband; both variants were also found in the NHLBI Exome Variant Server database, and the authors did not believe them to be causative of the patient's multiorgan disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24176758" 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">rs606231264 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231264;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=rs606231264" 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=rs606231264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>This variant is classified as a variant of unknown significance because its contribution to Cantu syndrome (see <a href="/entry/239850">239850</a>) has not been confirmed.</p><p>In a 13-year-old boy with Cantu syndrome who was originally described by <a href="#7" class="mim-tip-reference" title="Engels, H., Bosse, K., Ehrbrecht, A., Zahn, S., Hoischen, A., Propping, P., Bindl, L., Reutter, H. <strong>Further case of Cantu syndrome: exclusion of cryptic subtelomeric chromosome aberrations.</strong> Am. J. Med. Genet. 111: 205-209, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210352</a>] [<a href="https://doi.org/10.1002/ajmg.10560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210352">Engels et al. (2002)</a> and who was found to be negative for mutation in the ABCC9 gene (<a href="/entry/601439">601439</a>) by <a href="#16" 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>, <a href="#4" class="mim-tip-reference" title="Cooper, P. E., Reutter, H., Woelfle, J., Engels, H., Grange, D. K., van Haaften, G., van Bon, B. W., Hoischen, A., Nichols, C. G. <strong>Cantu syndrome resulting from activating mutation in the KCNJ8 gene.</strong> Hum. Mutat. 35: 809-813, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24700710[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/10.1002/humu.22555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700710">Cooper et al. (2014)</a> identified heterozygosity for a de novo c.526T-A transversion in the KCNJ8 gene, resulting in a cys176-to-ser (C176S) substitution at a highly conserved residue. The mutation was not present in the proband's unaffected parents, in 2,096 in-house exomes, or in 6,503 exomes in the NHLBI Exome Variant Server database. Functional analysis in recombinant COS cells showed marked gain of function with the C176S mutant compared to wildtype, even under basal metabolic conditions. Patch-clamp experiments demonstrated that the enhanced activity of C176S mutant channels results from reduced ATP sensitivity, and indicated that the heterozygous C176S mutation will overactivate any native K(ATP) channel in which it is present. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24700710+22608503+12210352" 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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<p />
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</div>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Barajas-Martinez2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Barajas-Martinez, H., Hu, D., Ferrer, T., Onetti, C. G., Wu, Y., Burashnikov, E., Boyle, M., Surman, T., Urrutia, J., Veltmann, C., Schimpf, R., Borggrefe, M., Wolpert, C., Ibrahim, B. B., Sanchez-Chapula, J. A., Winters, S., Haissaguerre, M., Antzelevitch, C.
|
|
<strong>Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.</strong>
|
|
Heart Rhythm 9: 548-555, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22056721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22056721</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22056721[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=22056721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.hrthm.2011.10.035" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Beltrame1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Beltrame, J. F., Sasayama, S., Maseri, A.
|
|
<strong>Racial heterogeneity in coronary artery vasomotor reactivity: differences between Japanese and Caucasian patients.</strong>
|
|
J. Am. Coll. Cardiol. 33: 1442-1452, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10334407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10334407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10334407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0735-1097(99)00073-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Brownstein2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B., Beggs, A. H.
|
|
<strong>Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities: support for the role of K(ATP) channels in this condition.</strong>
|
|
Europ. J. Med. Genet. 56: 678-682, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24176758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24176758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24176758[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=24176758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ejmg.2013.09.009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Cooper2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cooper, P. E., Reutter, H., Woelfle, J., Engels, H., Grange, D. K., van Haaften, G., van Bon, B. W., Hoischen, A., Nichols, C. G.
|
|
<strong>Cantu syndrome resulting from activating mutation in the KCNJ8 gene.</strong>
|
|
Hum. Mutat. 35: 809-813, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24700710[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=24700710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.22555" target="_blank">Full Text</a>]
|
|
|
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</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Croker2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Croker, B., Crozat, K., Berger, M., Xia, Y., Sovath, S., Schaffer, L., Eleftherianos, I., Imler, J.-L., Beutler, B.
|
|
<strong>ATP-sensitive potassium channels mediate survival during infection in mammals and insects.</strong>
|
|
Nature Genet. 39: 1453-1460, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18026101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18026101</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18026101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.2007.25" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Crotti2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Crotti, L., Marcou, C. A., Tester, D. J., Castelletti, S., Giudicessi, J. R., Torchio, M., Medeiros-Domingo, A., Simone, S., Will, M. L., Dagradi, F., Schwartz, P. J., Ackerman, M. J.
|
|
<strong>Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.</strong>
|
|
J. Am. Coll. Cardiol. 60: 1410-1418, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22840528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22840528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22840528[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=22840528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.jacc.2012.04.037" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Engels2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Engels, H., Bosse, K., Ehrbrecht, A., Zahn, S., Hoischen, A., Propping, P., Bindl, L., Reutter, H.
|
|
<strong>Further case of Cantu syndrome: exclusion of cryptic subtelomeric chromosome aberrations.</strong>
|
|
Am. J. Med. Genet. 111: 205-209, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.10560" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Haissaguerre2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haissaguerre, M., Chatel, S., Sacher, F., Weerasooriya, R., Probst, V., Loussouarn, G., Horlitz, M., Liersch, R., Schulze-Bahr, E., Wilde, A., Kaab, S., Koster, J., Rudy, Y., Le Marec, H., Schott, J. J.
|
|
<strong>Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/K(ATP) channel.</strong>
|
|
J. Cardiovasc. Electrophysiol. 20: 93-98, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19120683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19120683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19120683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1540-8167.2008.01326.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Inagaki1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Inagaki, N., Inazawa, J., Seino, S.
|
|
<strong>cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uK(ATP)-1, gene (KCNJ8).</strong>
|
|
Genomics 30: 102-104, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8595887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8595887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8595887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1995.0018" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Inagaki1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Inagaki, N., Tsuura, Y., Namba, N., Masuda, K., Gonoi, T., Horie, M., Seino, Y., Mizuta, M., Seino, S.
|
|
<strong>Cloning and functional characterization of a novel ATP-sensitive potassium channel ubiquitously expressed in rat tissues, including pancreatic islets, pituitary, skeletal muscle, and heart.</strong>
|
|
J. Biol. Chem. 270: 5691-5694, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7890693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7890693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7890693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
|
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[<a href="https://doi.org/10.1074/jbc.270.11.5691" target="_blank">Full Text</a>]
|
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|
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</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="MacAlpin1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
MacAlpin, R. N.
|
|
<strong>Cardiac arrest and sudden unexpected death in variant angina: complications of coronary spasm that can occur in the absence of severe organic coronary stenosis.</strong>
|
|
Am. Heart J. 125: 1011-1017, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8465723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
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[<a href="https://doi.org/10.1016/0002-8703(93)90108-l" target="_blank">Full Text</a>]
|
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|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
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<a id="Medeiros-Domingo2010" class="mim-anchor"></a>
|
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|
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|
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Medeiros-Domingo, A., Tan, B.-H., Crotti, L., Tester, D. J., Eckhardt, L., Cuoretti, A., Kroboth, S. L., Song, C., Zhou, Q., Kopp, D., Schwartz, P. J., Makielski, J. C., Ackerman, M. J.
|
|
<strong>Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.</strong>
|
|
Heart Rhythm 7: 1466-1471, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20558321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20558321</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20558321[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=20558321" 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.hrthm.2010.06.016" target="_blank">Full Text</a>]
|
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|
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|
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</li>
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|
|
|
<li>
|
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<a id="13" class="mim-anchor"></a>
|
|
<a id="Miki2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miki, T., Suzuki, M., Shibasaki, T., Uemura, H., Sato, T., Yamaguchi, K., Koseki, H., Iwanaga, T., Nakaya, H., Seino, S.
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<strong>Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1.</strong>
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Nature Med. 8: 466-472, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11984590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11984590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11984590" 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/nm0502-466" target="_blank">Full Text</a>]
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</p>
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<a id="14" class="mim-anchor"></a>
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<a id="Prinzmetal1959" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Prinzmetal, M., Kennamer, R., Merliss, R., Wada, T., Bor, N.
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<strong>Angina pectoris. 1. A variant form of angina pectoris: preliminary report.</strong>
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Am. J. Med. 27: 375-388, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14434946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14434946</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14434946" 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/10.1016/0002-9343(59)90003-8" target="_blank">Full Text</a>]
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</p>
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<a id="15" class="mim-anchor"></a>
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<a id="Pristipino2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pristipino, C., Beltrame, J. F., Finocchiaro, M. L., Hattori, R., Fujita, M., Mongiardo, R., Cianflone, D., Sanna, T., Sasayama, S., Maseri, A.
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<strong>Major racial differences in coronary constrictor response between Japanese and Caucasians with recent myocardial infarction.</strong>
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Circulation 101: 1102-1108, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10715255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10715255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10715255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.cir.101.10.1102" target="_blank">Full Text</a>]
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<a id="16" 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.
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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: <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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<a id="17" class="mim-anchor"></a>
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<a id="Veeramah2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Veeramah, K. R., Karafet, T. M., Wolf, D., Samson, R. A., Hammer, M. F.
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<strong>The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.</strong>
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Europ. J. Hum. Genet. 22: 94-98, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23632791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23632791</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23632791[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=23632791" 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/ejhg.2013.78" target="_blank">Full Text</a>]
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</p>
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<a id="18" class="mim-anchor"></a>
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<a id="Veeramah2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Veeramah, K. R., O'Brien, J. E., Meisler, M. H., Cheng, X., Dib-Hajj, S. D., Waxman, S. G., Talwar, D., Girirajan, S., Eichler, E. E., Restifo, L. L., Erickson, R. P., Hammer, M. F.
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<strong>De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.</strong>
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Am. J. Hum. Genet. 90: 502-512, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22365152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22365152</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22365152[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=22365152" 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.2012.01.006" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/27/2014
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</span>
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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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Victor A. McKusick - updated : 12/20/2007<br>Victor A. McKusick - updated : 5/20/2002
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</span>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott : 11/14/1995
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/14/2016
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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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alopez : 12/19/2014<br>carol : 11/6/2014<br>carol : 11/6/2014<br>carol : 11/6/2014<br>mcolton : 10/27/2014<br>alopez : 12/21/2007<br>terry : 12/20/2007<br>terry : 4/5/2005<br>tkritzer : 9/5/2002<br>mgross : 6/4/2002<br>terry : 5/20/2002<br>joanna : 5/7/2002<br>jenny : 12/5/1996<br>jenny : 12/3/1996<br>mark : 7/11/1996<br>mark : 11/9/1995<br>mark : 11/14/1995
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</span>
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<span class="mim-font">
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<strong>*</strong> 600935
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<h3>
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POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8
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</span>
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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INWARDLY RECTIFYING POTASSIUM CHANNEL Kir6.1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KCNJ8</em></strong>
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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> : 12:21,764,955-21,774,706 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Inagaki et al. (1995) isolated a cDNA from a rat pancreatic islet cell library that encodes a member of the inward rectifier potassium channel family. The predicted 424-amino acid protein, which they designated uKATP-1, has 2 transmembrane domains and shares 43 to 46% identity with other inward rectifier potassium channels, including ROMK1 (600359), IRK1 (600681), GIRK1 (601534), and cKATP-1 (600734). When the protein was expressed in Xenopus oocytes, a weak rectifier activity was demonstrated that was blocked with Ba(+2) and activated by diazoxide. Northern blots showed that the mRNA is widely expressed in various tissues of the rat. Inagaki et al. (1995) cloned the human gene, designated KCNJ8. The predicted human protein is 98% identical to that of the rat. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Inagaki et al. (1995) showed that the KCNJ8 gene contains 3 exons spanning approximately 10 kb. </p>
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<strong>Mapping</strong>
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<p>Inagaki et al. (1995) mapped the KCNJ8 gene to 12p11.23 by fluorescence in situ hybridization. </p>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>See 600935.0001 for discussion of a possible association between variation in the KCNJ8 gene and Brugada syndrome (see 601144) or ventricular fibrillation with early repolarization (see 613601).</p><p>For discussion of a possible association between Cantu syndrome (see 239850) and variation in the KCNJ8 gene, see 600935.0002 and 600935.0003.</p>
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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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<p>Miki et al. (2002) found that mice lacking the Kir6.1 gene had a high rate of sudden death associated with spontaneous ST elevation followed by atrioventricular block, as seen on the electrocardiogram. The potassium channel opener pinacidil did not induce potassium channels in vascular smooth muscle cells of Kir6.1-null mice, and there was no vasodilation response to pinacidil. Administration of methylergometrine, a vasoconstrictive agent, elicited ST elevation followed by cardiac death in Kir6.1-null mice but not in wildtype mice, indicating a phenotype characterized by hypercontractility of coronary arteries and resembling Prinzmetal (or variant) angina in humans (Prinzmetal et al., 1959). Prinzmetal angina occurs exclusively at rest and is associated with elevation of ST segments on EKG during the attack. Although the attack disappears spontaneously in most cases, it can lead to myocardial infarction, severe AV block, life-threatening ventricular tachycardia, and sudden death if the coronary vasospasm is prolonged (MacAlpin, 1993). The elevated ST segments on EKG during the attack are diagnostic, as is induction of coronary spasm by ergot alkaloids or acetylcholine. Vasospastic angina is more common in Japanese than in Caucasians (Beltrame et al., 1999; Pristipino et al., 2000). Miki et al. (2002) concluded that the Kir6.1-containing potassium channel is critical in the regulation of vascular tone, especially in the coronary arteries, and its disruption may cause Prinzmetal angina. They suggested that it will be important to learn whether genetic differences in the KIR6.1 gene are associated with Prinzmetal angina in various populations. </p><p>From a screen of N-ethyl-N-nitrosourea (ENU)-mutagenized mice, Croker et al. (2007) identified a mutation causing both profound susceptibility to infection by mouse cytomegalovirus and a sensitization of approximately 20,000-fold to lipopolysaccharide, poly(I.C), and immunostimulatory (CpG) DNA. The LPS hypersensitivity phenotype was not suppressed by mutations in other genes contributing to LPS responses, and resulted from an abnormality extrinsic to hematopoietic cells. The phenotype was due to a null allele of Kcnj8, encoding Kir6.1, a protein that combines with SUR2 (601439) to form an ATP-sensitive potassium channel expressed in coronary artery smooth muscle and endothelial cells. In Drosophila melanogaster, Croker et al. (2007) found that suppression of dSUR by RNA interference similarly caused hypersensitivity to infection by flock house virus. Thus, K(ATP) evolved to serve a homeostatic function during infection, an in mammals it prevents coronary artery vasoconstriction induced by cytokines dependent on Toll-like receptor (TLR; see 601194) and/or MDA5 (606951) immunoreceptors. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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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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KCNJ8, SER422LEU
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<br />
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SNP: rs72554071,
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gnomAD: rs72554071,
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ClinVar: RCV000144888, RCV000621636, RCV000852667, RCV001085300, RCV003927417
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</span>
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to Brugada syndrome (see 601144) or to ventricular fibrillation with early repolarization (see 613601) has not been confirmed. See Veeramah et al. (2014) and Cooper et al. (2014). </p><p>In a 14-year-old girl with recurrent episodes of ventricular fibrillation (VF) and prominent early repolarization, Haissaguerre et al. (2009) analyzed 21 cardiac ion channel-associated genes and identified heterozygosity for a c.1265C-T transition in exon 3 of the KCNJ8 gene, resulting in a ser422-to-leu (S422L) substitution at a highly conserved residue. Flecainide challenge in the proband did not unmask a Brugada pattern on electrocardiography (ECG). The mutation was not found in her unaffected mother or in 764 control alleles; her father did not consent to clinical or genetic testing. The KCNJ8 S422L variant was not detected in 156 additional VF patients with early repolarization. </p><p>Medeiros-Domingo et al. (2010) sequenced the KCNJ8 gene in 87 patients with Brugada syndrome and 14 with early repolarization syndrome and identified heterozygosity for the S422L mutation in 2 patients: one was a 30-year-old man diagnosed with Brugada syndrome; the other was a 21-year-old man with a history of syncope and ventricular tachycardia who had an early repolarization pattern on ECG, in whom no drug challenge to unmask a Brugada pattern was reported. The mutation was not found in 1,200 control alleles (p = 0.02). Voltage-clamp studies in COS-1 cells showed a 60 to 67% increase in K(ATP) current density with the S422L mutant compared to wildtype, indicating a marked gain of function. </p><p>Barajas-Martinez et al. (2012) sequenced the KCNJ8 gene in 204 patients with what they designated 'J-wave syndromes,' encompassing Brugada syndrome and 'early repolarization syndrome.' They identified the S422L mutation in 3 unrelated male patients with Brugada syndrome and confirmed the mutation in the female patient with VF and early repolarization who was originally studied by Haissaguerre et al. (2009). The S422L mutation, which was not found in 430 control alleles, was also detected in the affected mother of 1 of the male probands; both patients exhibited atrial fibrillation and first-degree atrioventricular block. The 5 patients with the S422L mutation were also screened for variants in 22 known Brugada syndrome- or early repolarization-associated genes; heterozygosity for a D601E polymorphism in the CACNB2 gene (600003) was detected in the mother and son with Brugada syndrome and in the female patient with VF and early repolarization. Whole-cell patch-clamp studies demonstrated a 2-fold gain of function with the S422L KCNJ8 mutation compared to wildtype; in addition, at physiologic levels of intracellular ATP, wildtype channels were totally inhibited, whereas mutant channels remained partially open. Barajas-Martinez et al. (2012) concluded that KCNJ8 is a susceptibility gene for both Brugada and early repolarization syndromes, and suggested that S422L might be a hotspot mutation. </p><p>Crotti et al. (2012) analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome. In an asymptomatic 30-year-old man with a type 1 Brugada syndrome ECG pattern, they identified heterozygosity for the S422L mutation in the KCNJ8 gene. </p><p>In an Ashkenazi Jewish family quartet in which the female proband died from early infantile epileptic encephalopathy (EIEE13; 614558) due to a mutation in the SCN8A gene (600702.0002), Veeramah et al. (2014) reexamined the results from whole-genome sequencing performed by Veeramah et al. (2012). The authors found that the unaffected parents as well as the deceased proband were heterozygous for the S422L mutation in the KCNJ8 gene, whereas the proband's healthy 12-year-old brother was homozygous for S422L. Serial ECGs in the S422L homozygote showed no clinically significant abnormalities, whereas his heterozygous father showed subtle J-point elevation. Veeramah et al. (2014) genotyped the S422L variant in a panel of 722 individuals from 22 European, Middle Eastern non-Jewish, Ashkenazi Jewish, and non-Ashkenazi Jewish populations and found that the S422L allele was present at a significantly higher frequency in Ashkenazi Jews (approximately 4%) than in other populations, which had frequencies less than 0.25%. Veeramah et al. (2014) suggested that either previous studies implicating S422L as pathogenic for J-wave syndromes failed to account for European population structure and that the variant was likely benign, or that Ashkenazi Jews might be at significantly increased risk of J-wave syndromes and ultimately sudden cardiac death. </p><p>Cooper et al. (2014) performed functional analysis of the S422L mutant in recombinant COS cells and observed similar activity to that seen with wildtype KCNJ8. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0002 VARIANT OF UNKNOWN SIGNIFICANCE</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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KCNJ8, VAL65MET
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SNP: rs606231263,
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ClinVar: RCV000144889
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</span>
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to Cantu syndrome (see 239850) has not been confirmed.</p><p>By whole-genome analysis in a 6-year-old boy with Cantu syndrome who was negative for mutation in the ABCC9 gene (601439), Brownstein et al. (2013) identified heterozygosity for a de novo c.193G-A transition in exon 1 of the KCNJ8 gene, resulting in a val65-to-met (V65M) substitution at a highly conserved residue within the amino terminus. No functional analysis of the V65M mutant was reported. Although the patient had no abnormalities on ECG, he did exhibit vascular features previously unreported in Cantu syndrome, including a dilated aortic root, dilated hepatic and celiac arteries, dilated and tortuous intrahepatic arteries and veins, tortuous cerebral arteries, and multiple venous defects in the brain. Brownstein et al. (2013) also detected compound heterozygous missense variants in the EOMES gene (604615) in the proband; both variants were also found in the NHLBI Exome Variant Server database, and the authors did not believe them to be causative of the patient's multiorgan disorder. </p>
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<h4>
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<span class="mim-font">
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<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</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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KCNJ8, CYS176SER
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SNP: rs606231264,
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ClinVar: RCV000144890
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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>This variant is classified as a variant of unknown significance because its contribution to Cantu syndrome (see 239850) has not been confirmed.</p><p>In a 13-year-old boy with Cantu syndrome who was originally described by Engels et al. (2002) and who was found to be negative for mutation in the ABCC9 gene (601439) by van Bon et al. (2012), Cooper et al. (2014) identified heterozygosity for a de novo c.526T-A transversion in the KCNJ8 gene, resulting in a cys176-to-ser (C176S) substitution at a highly conserved residue. The mutation was not present in the proband's unaffected parents, in 2,096 in-house exomes, or in 6,503 exomes in the NHLBI Exome Variant Server database. Functional analysis in recombinant COS cells showed marked gain of function with the C176S mutant compared to wildtype, even under basal metabolic conditions. Patch-clamp experiments demonstrated that the enhanced activity of C176S mutant channels results from reduced ATP sensitivity, and indicated that the heterozygous C176S mutation will overactivate any native K(ATP) channel in which it is present. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
|
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</div>
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<div>
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<ol>
|
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|
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<li>
|
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<p class="mim-text-font">
|
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Barajas-Martinez, H., Hu, D., Ferrer, T., Onetti, C. G., Wu, Y., Burashnikov, E., Boyle, M., Surman, T., Urrutia, J., Veltmann, C., Schimpf, R., Borggrefe, M., Wolpert, C., Ibrahim, B. B., Sanchez-Chapula, J. A., Winters, S., Haissaguerre, M., Antzelevitch, C.
|
|
<strong>Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.</strong>
|
|
Heart Rhythm 9: 548-555, 2012.
|
|
|
|
|
|
[PubMed: 22056721]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.hrthm.2011.10.035]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beltrame, J. F., Sasayama, S., Maseri, A.
|
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<strong>Racial heterogeneity in coronary artery vasomotor reactivity: differences between Japanese and Caucasian patients.</strong>
|
|
J. Am. Coll. Cardiol. 33: 1442-1452, 1999.
|
|
|
|
|
|
[PubMed: 10334407]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0735-1097(99)00073-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brownstein, C. A., Towne, M. C., Luquette, L. J., Harris, D. J., Marinakis, N. S., Meinecke, P., Kutsche, K., Campeau, P. M., Yu, T. W., Margulies, D. M., Agrawal, P. B., Beggs, A. H.
|
|
<strong>Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities: support for the role of K(ATP) channels in this condition.</strong>
|
|
Europ. J. Med. Genet. 56: 678-682, 2013.
|
|
|
|
|
|
[PubMed: 24176758]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ejmg.2013.09.009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cooper, P. E., Reutter, H., Woelfle, J., Engels, H., Grange, D. K., van Haaften, G., van Bon, B. W., Hoischen, A., Nichols, C. G.
|
|
<strong>Cantu syndrome resulting from activating mutation in the KCNJ8 gene.</strong>
|
|
Hum. Mutat. 35: 809-813, 2014.
|
|
|
|
|
|
[PubMed: 24700710]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.22555]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Croker, B., Crozat, K., Berger, M., Xia, Y., Sovath, S., Schaffer, L., Eleftherianos, I., Imler, J.-L., Beutler, B.
|
|
<strong>ATP-sensitive potassium channels mediate survival during infection in mammals and insects.</strong>
|
|
Nature Genet. 39: 1453-1460, 2007.
|
|
|
|
|
|
[PubMed: 18026101]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.2007.25]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Crotti, L., Marcou, C. A., Tester, D. J., Castelletti, S., Giudicessi, J. R., Torchio, M., Medeiros-Domingo, A., Simone, S., Will, M. L., Dagradi, F., Schwartz, P. J., Ackerman, M. J.
|
|
<strong>Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.</strong>
|
|
J. Am. Coll. Cardiol. 60: 1410-1418, 2012.
|
|
|
|
|
|
[PubMed: 22840528]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.jacc.2012.04.037]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Engels, H., Bosse, K., Ehrbrecht, A., Zahn, S., Hoischen, A., Propping, P., Bindl, L., Reutter, H.
|
|
<strong>Further case of Cantu syndrome: exclusion of cryptic subtelomeric chromosome aberrations.</strong>
|
|
Am. J. Med. Genet. 111: 205-209, 2002.
|
|
|
|
|
|
[PubMed: 12210352]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.10560]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haissaguerre, M., Chatel, S., Sacher, F., Weerasooriya, R., Probst, V., Loussouarn, G., Horlitz, M., Liersch, R., Schulze-Bahr, E., Wilde, A., Kaab, S., Koster, J., Rudy, Y., Le Marec, H., Schott, J. J.
|
|
<strong>Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/K(ATP) channel.</strong>
|
|
J. Cardiovasc. Electrophysiol. 20: 93-98, 2009.
|
|
|
|
|
|
[PubMed: 19120683]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1540-8167.2008.01326.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Inagaki, N., Inazawa, J., Seino, S.
|
|
<strong>cDNA sequence, gene structure, and chromosomal localization of the human ATP-sensitive potassium channel, uK(ATP)-1, gene (KCNJ8).</strong>
|
|
Genomics 30: 102-104, 1995.
|
|
|
|
|
|
[PubMed: 8595887]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1995.0018]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Inagaki, N., Tsuura, Y., Namba, N., Masuda, K., Gonoi, T., Horie, M., Seino, Y., Mizuta, M., Seino, S.
|
|
<strong>Cloning and functional characterization of a novel ATP-sensitive potassium channel ubiquitously expressed in rat tissues, including pancreatic islets, pituitary, skeletal muscle, and heart.</strong>
|
|
J. Biol. Chem. 270: 5691-5694, 1995.
|
|
|
|
|
|
[PubMed: 7890693]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.270.11.5691]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
MacAlpin, R. N.
|
|
<strong>Cardiac arrest and sudden unexpected death in variant angina: complications of coronary spasm that can occur in the absence of severe organic coronary stenosis.</strong>
|
|
Am. Heart J. 125: 1011-1017, 1993.
|
|
|
|
|
|
[PubMed: 8465723]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-8703(93)90108-l]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Medeiros-Domingo, A., Tan, B.-H., Crotti, L., Tester, D. J., Eckhardt, L., Cuoretti, A., Kroboth, S. L., Song, C., Zhou, Q., Kopp, D., Schwartz, P. J., Makielski, J. C., Ackerman, M. J.
|
|
<strong>Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.</strong>
|
|
Heart Rhythm 7: 1466-1471, 2010.
|
|
|
|
|
|
[PubMed: 20558321]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.hrthm.2010.06.016]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Miki, T., Suzuki, M., Shibasaki, T., Uemura, H., Sato, T., Yamaguchi, K., Koseki, H., Iwanaga, T., Nakaya, H., Seino, S.
|
|
<strong>Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1.</strong>
|
|
Nature Med. 8: 466-472, 2002.
|
|
|
|
|
|
[PubMed: 11984590]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm0502-466]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Prinzmetal, M., Kennamer, R., Merliss, R., Wada, T., Bor, N.
|
|
<strong>Angina pectoris. 1. A variant form of angina pectoris: preliminary report.</strong>
|
|
Am. J. Med. 27: 375-388, 1959.
|
|
|
|
|
|
[PubMed: 14434946]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(59)90003-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pristipino, C., Beltrame, J. F., Finocchiaro, M. L., Hattori, R., Fujita, M., Mongiardo, R., Cianflone, D., Sanna, T., Sasayama, S., Maseri, A.
|
|
<strong>Major racial differences in coronary constrictor response between Japanese and Caucasians with recent myocardial infarction.</strong>
|
|
Circulation 101: 1102-1108, 2000.
|
|
|
|
|
|
[PubMed: 10715255]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.cir.101.10.1102]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<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.
|
|
<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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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Veeramah, K. R., Karafet, T. M., Wolf, D., Samson, R. A., Hammer, M. F.
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<strong>The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.</strong>
|
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Europ. J. Hum. Genet. 22: 94-98, 2014.
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[PubMed: 23632791]
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[Full Text: https://doi.org/10.1038/ejhg.2013.78]
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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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Veeramah, K. R., O'Brien, J. E., Meisler, M. H., Cheng, X., Dib-Hajj, S. D., Waxman, S. G., Talwar, D., Girirajan, S., Eichler, E. E., Restifo, L. L., Erickson, R. P., Hammer, M. F.
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<strong>De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.</strong>
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Am. J. Hum. Genet. 90: 502-512, 2012.
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[PubMed: 22365152]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.01.006]
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</p>
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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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Marla J. F. O'Neill - updated : 10/27/2014<br>Victor A. McKusick - updated : 12/20/2007<br>Victor A. McKusick - updated : 5/20/2002
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Alan F. Scott : 11/14/1995
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carol : 09/14/2016<br>alopez : 12/19/2014<br>carol : 11/6/2014<br>carol : 11/6/2014<br>carol : 11/6/2014<br>mcolton : 10/27/2014<br>alopez : 12/21/2007<br>terry : 12/20/2007<br>terry : 4/5/2005<br>tkritzer : 9/5/2002<br>mgross : 6/4/2002<br>terry : 5/20/2002<br>joanna : 5/7/2002<br>jenny : 12/5/1996<br>jenny : 12/3/1996<br>mark : 7/11/1996<br>mark : 11/9/1995<br>mark : 11/14/1995
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