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Entry
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- #618447 - LONG QT SYNDROME 8; LQT8
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- OMIM
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<p>
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<span class="h4">#618447</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="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/618447"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS192500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=LONG QT SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10865&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Timothy syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=658&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial long QT syndrome </a></div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Long QT Syndrome Overview</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">CACNA1C-Related Disorders</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/cacna1c" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=618447[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><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Timothy syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial long QT syndrome</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110649" 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="http://www.informatics.jax.org/disease/618447" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110649" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1230096008<br />
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<strong>ORPHA:</strong> 65283, 768<br />
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<strong>DO:</strong> 0110649<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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618447
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LONG QT SYNDROME 8; LQT8
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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<a href="/geneMap/12/18?start=-3&limit=10&highlight=18">
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12p13.33
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Long QT syndrome 8
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<span class="mim-font">
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<a href="/entry/618447"> 618447 </a>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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CACNA1C
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/114205"> 114205 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/618447" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS192500" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/618447" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/618447" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Presyncope <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/427461000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">427461000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700200</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031972</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031972" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031972</a>]</span><br /> -
|
|
Syncope <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/272030005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">272030005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271594007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271594007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309585006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309585006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3541349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3541349</a>, <a href="https://bioportal.bioontology.org/search?q=C0039070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039070</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>]</span><br /> -
|
|
QT interval prolongation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678200</a>]</span><br /> -
|
|
Ventricular fibrillation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164896001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164896001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71908006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71908006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042510</a>, <a href="https://bioportal.bioontology.org/search?q=C0344435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344435</a>, <a href="https://bioportal.bioontology.org/search?q=C2108112&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2108112</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001663</a>]</span><br /> -
|
|
Cardiac arrest <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397829000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397829000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/410429000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">410429000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I46</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001695</a>]</span><br /> -
|
|
Sudden death <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26636000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26636000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011071</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
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|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
|
Variable expressivity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Cardiac arrest may occur in the first decade of life <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397829000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397829000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/410429000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">410429000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I46</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001695</a>]</span><br /> -
|
|
Some affected individuals are asymptomatic<br />
|
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|
|
</span>
|
|
</div>
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</div>
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the calcium channel, voltage-dependent, L type, alpha-1C subunit gene (CACNA1C, <a href="/entry/114205#0005">114205.0005</a>)<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Long QT syndrome
|
|
- <a href="/phenotypicSeries/PS192500">PS192500</a>
|
|
- 21 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/236?start=-3&limit=10&highlight=236"> 2p21 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616249"> Long QT syndrome 15 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616249"> 616249 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/114182"> CALM2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/114182"> 114182 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/27?start=-3&limit=10&highlight=27"> 3p25.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611818"> Long QT syndrome 9 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611818"> 611818 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601253"> CAV3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601253"> 601253 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603830"> Long QT syndrome 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603830"> 603830 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600163"> SCN5A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600163"> 600163 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/502?start=-3&limit=10&highlight=502"> 4q25-q26 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600919"> Long QT syndrome 4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600919"> 600919 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/106410"> ANK2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/106410"> 106410 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/502?start=-3&limit=10&highlight=502"> 4q25-q26 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600919"> Cardiac arrhythmia, ankyrin-B-related </a>
|
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</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/600919"> 600919 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/106410"> ANK2 </a>
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/106410"> 106410 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/404?start=-3&limit=10&highlight=404"> 7q21.2 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611820"> ?Long QT syndrome 11 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611820"> 611820 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604001"> AKAP9 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604001"> 604001 </a>
|
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</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/821?start=-3&limit=10&highlight=821"> 7q36.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613688"> Long QT syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613688"> 613688 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/152427"> KCNH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/152427"> 152427 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82"> 11p15.5-p15.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/192500"> {Long QT syndrome 1, acquired, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/192500"> 192500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607542"> KCNQ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607542"> 607542 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82"> 11p15.5-p15.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/192500"> Long QT syndrome 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/192500"> 192500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607542"> KCNQ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607542"> 607542 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/976?start=-3&limit=10&highlight=976"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611819"> Atrial fibrillation, familial, 17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611819"> 611819 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608256"> SCN4B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608256"> 608256 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/976?start=-3&limit=10&highlight=976"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611819"> Long QT syndrome 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611819"> 611819 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608256"> SCN4B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608256"> 608256 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1085?start=-3&limit=10&highlight=1085"> 11q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613485"> Long QT syndrome 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613485"> 613485 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600734"> KCNJ5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600734"> 600734 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/18?start=-3&limit=10&highlight=18"> 12p13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618447"> Long QT syndrome 8 </a>
|
|
</span>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/618447"> 618447 </a>
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<a href="/entry/114205"> CACNA1C </a>
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<a href="/entry/114205"> 114205 </a>
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<span class="mim-font">
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<a href="/entry/613688"> {Long QT syndrome, acquired, reduced susceptibility to} </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/613688"> 613688 </a>
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<span class="mim-font">
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<a href="/entry/603313"> ALG10B </a>
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<a href="/entry/603313"> 603313 </a>
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<a href="/geneMap/14/455?start=-3&limit=10&highlight=455"> 14q32.11 </a>
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<span class="mim-font">
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<a href="/entry/616247"> Long QT syndrome 14 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/616247"> 616247 </a>
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<span class="mim-font">
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<a href="/entry/114180"> CALM1 </a>
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<span class="mim-font">
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<a href="/entry/114180"> 114180 </a>
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<a href="/geneMap/17/893?start=-3&limit=10&highlight=893"> 17q24.3 </a>
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<span class="mim-font">
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<a href="/entry/170390"> Andersen syndrome </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/170390"> 170390 </a>
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<span class="mim-font">
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<a href="/entry/600681"> KCNJ2 </a>
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<span class="mim-font">
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<a href="/entry/600681"> 600681 </a>
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<span class="mim-font">
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<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618782"> ?Ventricular tachycardia, catecholaminergic polymorphic 6 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/618782"> 618782 </a>
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<span class="mim-font">
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<a href="/entry/114183"> CALM3 </a>
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<span class="mim-font">
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<a href="/entry/114183"> 114183 </a>
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<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618782"> Long QT syndrome 16 </a>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/618782"> 618782 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/114183"> CALM3 </a>
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<span class="mim-font">
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<a href="/entry/114183"> 114183 </a>
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<a href="/geneMap/20/213?start=-3&limit=10&highlight=213"> 20q11.21 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/612955"> Long QT syndrome 12 </a>
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/612955"> 612955 </a>
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<span class="mim-font">
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<a href="/entry/601017"> SNTA1 </a>
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<span class="mim-font">
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<a href="/entry/601017"> 601017 </a>
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<a href="/geneMap/21/79?start=-3&limit=10&highlight=79"> 21q22.11 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/613693"> Long QT syndrome 6 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/613693"> 613693 </a>
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<span class="mim-font">
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<a href="/entry/603796"> KCNE2 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/603796"> 603796 </a>
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<span class="mim-font">
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<a href="/geneMap/21/80?start=-3&limit=10&highlight=80"> 21q22.12 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613695"> Long QT syndrome 5 </a>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/613695"> 613695 </a>
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<span class="mim-font">
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<a href="/entry/176261"> KCNE1 </a>
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<span class="mim-font">
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<a href="/entry/176261"> 176261 </a>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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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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<p>A number sign (#) is used with this entry because of evidence that long QT syndrome-8 (LQT8) is caused by heterozygous mutation in the CACNA1C gene (<a href="/entry/114205">114205</a>) on chromosome 12p13.</p><p>Mutation in the CACNA1C gene can also cause Brugada syndrome (BRGDA3; <a href="/entry/611875">611875</a>) and Timothy syndrome (TS; <a href="/entry/601005">601005</a>).</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (<a href="#4" class="mim-tip-reference" title="Jongbloed, R. J. E., Wilde, A. A. M., Geelen, J. L. M. C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J. P., Cobben, J. M., Beaufort-Krol, G. C. M., Geraedts, J. P. M., Smeets, H. J. M. <strong>Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.</strong> Hum. Mutat. 13: 301-310, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10220144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10220144</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10220144">Jongbloed et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10220144" 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>For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (<a href="/entry/192500">192500</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Boczek, N. J., Best, J. M., Tester, D. J., Giudicessi, J. R., Middha, S., Evans, J. M., Kamp, T. J., Ackerman, M. J. <strong>Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.</strong> Circ. Cardiovasc. Genet. 6: 279-289, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23677916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23677916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23677916[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/10.1161/CIRCGENETICS.113.000138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23677916">Boczek et al. (2013)</a> reported 2 families with long QT syndrome and mutation in the CACNA1C gene. In the first family, the proband was a 33-year-old woman who presented at age 27 with a postpartum agonal breathing event. History revealed multiple startle-triggered and exercise-induced syncopal events starting at age 13 years. Her ECG revealed a prolonged QTc of 498 ms. A cardioverter-defibrillator was implanted. One of the proband's maternal aunts had a cardiac arrest at age 44 years, which resulted in significant neurologic damage. A second maternal aunt died during infancy of unknown cause. A third maternal aunt had a syncopal event during pregnancy (QTc = 479 ms). The proband's daughter was being treated with prophylactic beta-block therapy since the age of 8 years (QTc = 450 ms). The proband's asymptomatic mother had a prolonged QTc of 486 ms. The ECG of the proband's asymptomatic maternal uncle showed sinus bradycardia, early repolarization, and a QTc of 454 ms. In the second family, the proband was a 15-year-old boy who was diagnosed with LQT8 (Qtc of 514 ms) after the sudden unexplained death of his 12-year-old sister during sleep. His mother, maternal grandmother, maternal great uncle, and maternal great aunt all had a history of syncopal events during childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23677916" 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="#2" class="mim-tip-reference" title="Fukuyama, M., Wang, Q., Kato, K., Ohno, S., Ding, W.-G., Toyoda, F., Itoh, H., Kimura, H., Makiyama, T., Ito, M., Matsuura, H., Horie, M. <strong>Long QT syndrome type 8: novel CACNA2C mutations causing QT prolongation and variant phenotypes.</strong> Europace 16: 1828-1837, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24728418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24728418</a>] [<a href="https://doi.org/10.1093/europace/euu063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24728418">Fukuyama et al. (2014)</a> reported 7 patients from 5 Japanese families with LQT8. Prolonged QTc ranged from 420 ms to 597 ms in the probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24728418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gardner, R. J. M., Crozier, I. G., Binfield, A. L., Love, D. R., Lehnert, K., Gibson, K., Lintott, C. J., Snell, R. G., Jacobsen, J. C., Jones, P. P., Waddell-Smith, K. E., Kennedy, M. A., Skinner, J. R. <strong>Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.</strong> Molec. Genet. Genomic Med. 7: e00476, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30345660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30345660</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30345660[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/mgg3.476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30345660">Gardner et al. (2019)</a> reported affected members of a 5-generation European family with LQT8. The phenotype in the family was highly variable and ranged from no apparent effect, through asymptomatic QT interval prolongation on ECG, to episodes of presyncope and syncope, ventricular fibrillation, and sudden death. QT prolongation showed inconsistent correlation with functional cardiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30345660" 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>The transmission pattern of LQT8 in the family reported by <a href="#1" class="mim-tip-reference" title="Boczek, N. J., Best, J. M., Tester, D. J., Giudicessi, J. R., Middha, S., Evans, J. M., Kamp, T. J., Ackerman, M. J. <strong>Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.</strong> Circ. Cardiovasc. Genet. 6: 279-289, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23677916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23677916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23677916[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/10.1161/CIRCGENETICS.113.000138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23677916">Boczek et al. (2013)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23677916" 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 the 5-generation family reported by <a href="#3" class="mim-tip-reference" title="Gardner, R. J. M., Crozier, I. G., Binfield, A. L., Love, D. R., Lehnert, K., Gibson, K., Lintott, C. J., Snell, R. G., Jacobsen, J. C., Jones, P. P., Waddell-Smith, K. E., Kennedy, M. A., Skinner, J. R. <strong>Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.</strong> Molec. Genet. Genomic Med. 7: e00476, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30345660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30345660</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30345660[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/mgg3.476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30345660">Gardner et al. (2019)</a>, the transmission pattern of LQT8 was consistent with autosomal dominant inheritance with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30345660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By trio-based whole-exome sequencing in a large multigeneration family segregating long QT syndrome without mutation in known causative genes, <a href="#1" class="mim-tip-reference" title="Boczek, N. J., Best, J. M., Tester, D. J., Giudicessi, J. R., Middha, S., Evans, J. M., Kamp, T. J., Ackerman, M. J. <strong>Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.</strong> Circ. Cardiovasc. Genet. 6: 279-289, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23677916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23677916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23677916[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/10.1161/CIRCGENETICS.113.000138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23677916">Boczek et al. (2013)</a> identified heterozygosity for a missense mutation in the CACNA1C gene (P857R; <a href="/entry/114205#0005">114205.0005</a>) that segregated with the disorder in the family. By sequencing the CACNA1C gene in 102 unrelated patients with LQTS without a molecular basis, <a href="#1" class="mim-tip-reference" title="Boczek, N. J., Best, J. M., Tester, D. J., Giudicessi, J. R., Middha, S., Evans, J. M., Kamp, T. J., Ackerman, M. J. <strong>Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.</strong> Circ. Cardiovasc. Genet. 6: 279-289, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23677916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23677916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23677916[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/10.1161/CIRCGENETICS.113.000138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23677916">Boczek et al. (2013)</a> identified 3 patients with heterozygous mutations in the CACNA1C gene (see, e.g., P857L, <a href="/entry/114205#0006">114205.0006</a> and K834E, <a href="/entry/114205#0007">114205.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23677916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening 278 Japanese probands with LQT who were negative for mutation in known causative genes, <a href="#2" class="mim-tip-reference" title="Fukuyama, M., Wang, Q., Kato, K., Ohno, S., Ding, W.-G., Toyoda, F., Itoh, H., Kimura, H., Makiyama, T., Ito, M., Matsuura, H., Horie, M. <strong>Long QT syndrome type 8: novel CACNA2C mutations causing QT prolongation and variant phenotypes.</strong> Europace 16: 1828-1837, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24728418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24728418</a>] [<a href="https://doi.org/10.1093/europace/euu063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24728418">Fukuyama et al. (2014)</a> identified 5 novel CACNA1C variants (see, e.g., R858H, <a href="/entry/114205#0008">114205.0008</a> and A582D, <a href="/entry/114205#0009">114205.0009</a>) in 7 probands. The variants were absent in the NHLBI Exome Variant Server database and in 500 reference alleles from 250 Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24728418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Sanger sequencing of the genes causing LQT1 through LQT8 in 540 probands with LQT, <a href="#5" class="mim-tip-reference" title="Wemhoner, K., Friedrich, C., Stallmeyer, B., Coffey, A. J., Grace, A., Zumhagen, S., Seebohm, G., Ortiz-Bonnin, B., Rinne, S., Sachse, F. B., Shulze-Bahr, E., Decher, N. <strong>Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.</strong> J. Molec. Cell. Cardiol. 80: 186-195, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25633834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25633834</a>] [<a href="https://doi.org/10.1016/j.yjmcc.2015.01.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25633834">Wemhoner et al. (2015)</a> identified 6 patients with heterozygous mutations in the CACNA1C gene (see, e.g., I1475M, <a href="/entry/114205#0010">114205.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25633834" 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 affected members of a 5-generation European family with LQT8, <a href="#3" class="mim-tip-reference" title="Gardner, R. J. M., Crozier, I. G., Binfield, A. L., Love, D. R., Lehnert, K., Gibson, K., Lintott, C. J., Snell, R. G., Jacobsen, J. C., Jones, P. P., Waddell-Smith, K. E., Kennedy, M. A., Skinner, J. R. <strong>Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.</strong> Molec. Genet. Genomic Med. 7: e00476, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30345660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30345660</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30345660[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/mgg3.476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30345660">Gardner et al. (2019)</a> identified heterozygosity for the R858H mutation in the CACNA1C gene that was previously identified by <a href="#2" class="mim-tip-reference" title="Fukuyama, M., Wang, Q., Kato, K., Ohno, S., Ding, W.-G., Toyoda, F., Itoh, H., Kimura, H., Makiyama, T., Ito, M., Matsuura, H., Horie, M. <strong>Long QT syndrome type 8: novel CACNA2C mutations causing QT prolongation and variant phenotypes.</strong> Europace 16: 1828-1837, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24728418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24728418</a>] [<a href="https://doi.org/10.1093/europace/euu063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24728418">Fukuyama et al. (2014)</a> in Japanese patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24728418+30345660" 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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Boczek, N. J., Best, J. M., Tester, D. J., Giudicessi, J. R., Middha, S., Evans, J. M., Kamp, T. J., Ackerman, M. J.
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<strong>Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.</strong>
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Circ. Cardiovasc. Genet. 6: 279-289, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23677916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23677916</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23677916[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=23677916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fukuyama, M., Wang, Q., Kato, K., Ohno, S., Ding, W.-G., Toyoda, F., Itoh, H., Kimura, H., Makiyama, T., Ito, M., Matsuura, H., Horie, M.
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<strong>Long QT syndrome type 8: novel CACNA2C mutations causing QT prolongation and variant phenotypes.</strong>
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Europace 16: 1828-1837, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24728418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24728418</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24728418" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gardner, R. J. M., Crozier, I. G., Binfield, A. L., Love, D. R., Lehnert, K., Gibson, K., Lintott, C. J., Snell, R. G., Jacobsen, J. C., Jones, P. P., Waddell-Smith, K. E., Kennedy, M. A., Skinner, J. R.
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<strong>Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.</strong>
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Molec. Genet. Genomic Med. 7: e00476, 2019. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30345660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30345660</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30345660[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=30345660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jongbloed, R. J. E., Wilde, A. A. M., Geelen, J. L. M. C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J. P., Cobben, J. M., Beaufort-Krol, G. C. M., Geraedts, J. P. M., Smeets, H. J. M.
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<strong>Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.</strong>
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Hum. Mutat. 13: 301-310, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10220144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10220144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10220144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V" target="_blank">Full Text</a>]
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Wemhoner, K., Friedrich, C., Stallmeyer, B., Coffey, A. J., Grace, A., Zumhagen, S., Seebohm, G., Ortiz-Bonnin, B., Rinne, S., Sachse, F. B., Shulze-Bahr, E., Decher, N.
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<strong>Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.</strong>
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J. Molec. Cell. Cardiol. 80: 186-195, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25633834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25633834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25633834" 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.yjmcc.2015.01.002" target="_blank">Full Text</a>]
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Ada Hamosh : 05/24/2019
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carol : 06/06/2019
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carol : 06/05/2019
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<strong>#</strong> 618447
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LONG QT SYNDROME 8; LQT8
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<strong>SNOMEDCT:</strong> 1230096008;
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<strong>ORPHA:</strong> 65283, 768;
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<strong>DO:</strong> 0110649;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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12p13.33
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Long QT syndrome 8
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618447
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Autosomal dominant
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3
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CACNA1C
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114205
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<p>A number sign (#) is used with this entry because of evidence that long QT syndrome-8 (LQT8) is caused by heterozygous mutation in the CACNA1C gene (114205) on chromosome 12p13.</p><p>Mutation in the CACNA1C gene can also cause Brugada syndrome (BRGDA3; 611875) and Timothy syndrome (TS; 601005).</p>
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<strong>Description</strong>
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<p>Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). </p><p>For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).</p>
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<p>Boczek et al. (2013) reported 2 families with long QT syndrome and mutation in the CACNA1C gene. In the first family, the proband was a 33-year-old woman who presented at age 27 with a postpartum agonal breathing event. History revealed multiple startle-triggered and exercise-induced syncopal events starting at age 13 years. Her ECG revealed a prolonged QTc of 498 ms. A cardioverter-defibrillator was implanted. One of the proband's maternal aunts had a cardiac arrest at age 44 years, which resulted in significant neurologic damage. A second maternal aunt died during infancy of unknown cause. A third maternal aunt had a syncopal event during pregnancy (QTc = 479 ms). The proband's daughter was being treated with prophylactic beta-block therapy since the age of 8 years (QTc = 450 ms). The proband's asymptomatic mother had a prolonged QTc of 486 ms. The ECG of the proband's asymptomatic maternal uncle showed sinus bradycardia, early repolarization, and a QTc of 454 ms. In the second family, the proband was a 15-year-old boy who was diagnosed with LQT8 (Qtc of 514 ms) after the sudden unexplained death of his 12-year-old sister during sleep. His mother, maternal grandmother, maternal great uncle, and maternal great aunt all had a history of syncopal events during childhood. </p><p>Fukuyama et al. (2014) reported 7 patients from 5 Japanese families with LQT8. Prolonged QTc ranged from 420 ms to 597 ms in the probands. </p><p>Gardner et al. (2019) reported affected members of a 5-generation European family with LQT8. The phenotype in the family was highly variable and ranged from no apparent effect, through asymptomatic QT interval prolongation on ECG, to episodes of presyncope and syncope, ventricular fibrillation, and sudden death. QT prolongation showed inconsistent correlation with functional cardiology. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LQT8 in the family reported by Boczek et al. (2013) was consistent with autosomal dominant inheritance. </p><p>In the 5-generation family reported by Gardner et al. (2019), the transmission pattern of LQT8 was consistent with autosomal dominant inheritance with incomplete penetrance. </p>
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<strong>Molecular Genetics</strong>
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<p>By trio-based whole-exome sequencing in a large multigeneration family segregating long QT syndrome without mutation in known causative genes, Boczek et al. (2013) identified heterozygosity for a missense mutation in the CACNA1C gene (P857R; 114205.0005) that segregated with the disorder in the family. By sequencing the CACNA1C gene in 102 unrelated patients with LQTS without a molecular basis, Boczek et al. (2013) identified 3 patients with heterozygous mutations in the CACNA1C gene (see, e.g., P857L, 114205.0006 and K834E, 114205.0007). </p><p>By screening 278 Japanese probands with LQT who were negative for mutation in known causative genes, Fukuyama et al. (2014) identified 5 novel CACNA1C variants (see, e.g., R858H, 114205.0008 and A582D, 114205.0009) in 7 probands. The variants were absent in the NHLBI Exome Variant Server database and in 500 reference alleles from 250 Japanese controls. </p><p>By Sanger sequencing of the genes causing LQT1 through LQT8 in 540 probands with LQT, Wemhoner et al. (2015) identified 6 patients with heterozygous mutations in the CACNA1C gene (see, e.g., I1475M, 114205.0010). </p><p>In affected members of a 5-generation European family with LQT8, Gardner et al. (2019) identified heterozygosity for the R858H mutation in the CACNA1C gene that was previously identified by Fukuyama et al. (2014) in Japanese patients. </p>
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<strong>REFERENCES</strong>
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Boczek, N. J., Best, J. M., Tester, D. J., Giudicessi, J. R., Middha, S., Evans, J. M., Kamp, T. J., Ackerman, M. J.
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<strong>Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.</strong>
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Circ. Cardiovasc. Genet. 6: 279-289, 2013.
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[PubMed: 23677916]
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[Full Text: https://doi.org/10.1161/CIRCGENETICS.113.000138]
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Fukuyama, M., Wang, Q., Kato, K., Ohno, S., Ding, W.-G., Toyoda, F., Itoh, H., Kimura, H., Makiyama, T., Ito, M., Matsuura, H., Horie, M.
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<strong>Long QT syndrome type 8: novel CACNA2C mutations causing QT prolongation and variant phenotypes.</strong>
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Europace 16: 1828-1837, 2014.
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[PubMed: 24728418]
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[Full Text: https://doi.org/10.1093/europace/euu063]
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Gardner, R. J. M., Crozier, I. G., Binfield, A. L., Love, D. R., Lehnert, K., Gibson, K., Lintott, C. J., Snell, R. G., Jacobsen, J. C., Jones, P. P., Waddell-Smith, K. E., Kennedy, M. A., Skinner, J. R.
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<strong>Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.</strong>
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Molec. Genet. Genomic Med. 7: e00476, 2019. Note: Electronic Article.
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[PubMed: 30345660]
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[Full Text: https://doi.org/10.1002/mgg3.476]
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Jongbloed, R. J. E., Wilde, A. A. M., Geelen, J. L. M. C., Doevendans, P., Schaap, C., Van Langen, I., van Tintelen, J. P., Cobben, J. M., Beaufort-Krol, G. C. M., Geraedts, J. P. M., Smeets, H. J. M.
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<strong>Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.</strong>
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Hum. Mutat. 13: 301-310, 1999.
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[PubMed: 10220144]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V]
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Wemhoner, K., Friedrich, C., Stallmeyer, B., Coffey, A. J., Grace, A., Zumhagen, S., Seebohm, G., Ortiz-Bonnin, B., Rinne, S., Sachse, F. B., Shulze-Bahr, E., Decher, N.
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<strong>Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.</strong>
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J. Molec. Cell. Cardiol. 80: 186-195, 2015.
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[PubMed: 25633834]
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[Full Text: https://doi.org/10.1016/j.yjmcc.2015.01.002]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Ada Hamosh : 05/24/2019
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Edit History:
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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 : 06/06/2019<br>carol : 06/05/2019
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