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Entry
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- #609621 - SHORT QT SYNDROME 2; SQT2
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- OMIM
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<p>
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<span class="h4">#609621</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/609621"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS609620"> <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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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</div>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(SHORT QT SYNDROME) OR (KCNQ1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10670&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9291" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609621[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=51083" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050793" 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/609621" 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:0050793" 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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 51083<br />
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<strong>DO:</strong> 0050793<br />
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">ICD+</a>
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<div>
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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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609621
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SHORT QT SYNDROME 2; SQT2
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="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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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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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/11/82?start=-3&limit=10&highlight=82">
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11p15.5-p15.4
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Short QT syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/609621"> 609621 </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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</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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KCNQ1
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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/607542"> 607542 </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 class="btn-group ">
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<a href="/clinicalSynopsis/609621" 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 class="btn-group">
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<a href="/phenotypicSeries/PS609620" 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')">
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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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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/609621" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609621" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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|
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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">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
|
<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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</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>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<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">
|
|
|
|
- Bradycardia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48867003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48867003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428977</a>, <a href="https://bioportal.bioontology.org/search?q=C3812171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3812171</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001662</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001662</a>]</span><br /> -
|
|
Short QT interval <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315105&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315105</a>]</span><br /> -
|
|
Atrial fibrillation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49436004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49436004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164889003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164889003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926591</a>, <a href="https://bioportal.bioontology.org/search?q=C0004238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004238</a>, <a href="https://bioportal.bioontology.org/search?q=C0344434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span><br /> -
|
|
Slow ventricular response <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251161003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251161003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428978</a>]</span><br /> -
|
|
Coexisting sinus and atrioventricular node dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478805&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478805</a>]</span><br /> -
|
|
Ventricular fibrillation (in some patients) <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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
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|
|
</div>
|
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|
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|
|
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|
|
|
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|
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|
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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">
|
|
|
|
- Some patients are clinically asymptomatic<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, <a href="/entry/607542#0037">607542.0037</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Short QT syndrome
|
|
- <a href="/phenotypicSeries/PS609620">PS609620</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<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/609620"> Short QT syndrome 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/609620"> 609620 </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/609621"> Short 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/609621"> 609621 </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/17/893?start=-3&limit=10&highlight=893"> 17q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609622"> Short QT syndrome 3 </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/609622"> 609622 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600681"> KCNJ2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600681"> 600681 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
|
|
|
|
|
|
|
</div>
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
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|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
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<p>A number sign (#) is used with this entry because of evidence that short QT syndrome-2 (SQT2) is caused by heterozygous mutation in the KCNQ1 gene (<a href="/entry/607542">607542</a>) on chromosome 11p15.</p>
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<p>Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by <a href="#3" class="mim-tip-reference" title="Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C. <strong>A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.</strong> Cardiovasc. Res. 107: 613-623, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26168993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26168993</a>] [<a href="https://doi.org/10.1093/cvr/cvv196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26168993">Moreno et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26168993" 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 short QT syndrome, see SQT1 (<a href="/entry/609620">609620</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Bellocq, C., van Ginneken, A. C. G., Bezzina, C. R., Alders, M., Escande, D., Mannens, M. M. A. M., Baro, I., Wilde, A. A. M. <strong>Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.</strong> Circulation 109: 2394-2397, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159330</a>] [<a href="https://doi.org/10.1161/01.CIR.0000130409.72142.FE" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159330">Bellocq et al. (2004)</a> reported a 70-year-old man who was successfully resuscitated after an episode of ventricular fibrillation. A short QT interval on a subsequent ECG (290 ms) and on every ECG through 3 years of follow-up was noted. He had no prior symptoms and no other physical or physiologic abnormalities, and his family history was unremarkable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159330" 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="Hong, K., Piper, D. R., Diaz-Valdecantos, A., Brugada, J., Oliva, A., Burashnikov, E., Santos-de-Soto, J., Grueso-Montero, J., Diaz-Enfante, E., Brugada, P., Sachse, F., Sanguinetti, M. C., Brugada, R. <strong>De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.</strong> Cardiovasc. Res. 68: 433-440, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16109388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16109388</a>] [<a href="https://doi.org/10.1016/j.cardiores.2005.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16109388">Hong et al. (2005)</a> studied a female infant who was delivered at 28 weeks of gestation due to fetal bradycardia and irregular rhythm. At birth she had a normal physical exam apart from bradycardia at 60 beats per minute (bpm). ECG showed atrial fibrillation (AF) with slow ventricular response and short QT interval (280 ms). Electrical cardioversion did not terminate the AF. At follow-up her heart was growing normally and she remained asymptomatic, although ECG showed conduction block with ventricular escape rhythms. Family evaluation was negative except for a great-grandparent who developed AF at an advanced age, and thus it was not considered to represent familial AF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16109388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Villafane, J., Fischbach, P., Gebauer, R. <strong>Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia.</strong> Cardiology 128: 236-240, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24818999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24818999</a>] [<a href="https://doi.org/10.1159/000360758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24818999">Villafane et al. (2014)</a> reported 2 girls with short QT intervals, AF, and bradycardia. The first was a 6.5-year-old girl who presented at birth with AF and a ventricular rate of 60 bpm, who was diagnosed with SQT at 4 months of age (QTc, 292 ms). She underwent placement of a ventricular pacemaker at age 6 days due to persistent marked bradycardia. Electrophysiologic testing showed coexisting sinus and AV node dysfunction. The second patient was a 9-year-old girl who was diagnosed with fetal bradycardia (55 bpm) at 24 weeks of gestation. At birth, AF was documented, with a QTc of 317 ms. Holter monitoring at 11 months of age showed AF with a slow ventricular response at 35 to 70 bpm. AF was refractory to DC cardioversion and multiple antiarrhythmic agents in both patients. Both were clinically asymptomatic and neither had structural heart disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24818999" 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="Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C. <strong>A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.</strong> Cardiovasc. Res. 107: 613-623, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26168993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26168993</a>] [<a href="https://doi.org/10.1093/cvr/cvv196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26168993">Moreno et al. (2015)</a> studied a 23-year-old man whose father died unexpectedly at age 37 years while working as a postman. The son, who was healthy and athletic, showed sinus bradycardia on ECG with a slightly shortened QTc interval of 356 ms. On exercise testing, his QTc shortened further, to 350 ms at maximum workload. Echocardiography and cardiac MRI revealed a normal heart, and no arrhythmias were detected on 24-hour Holter monitoring. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26168993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 70-year-old man with short QT syndrome who survived an episode of ventricular fibrillation, <a href="#1" class="mim-tip-reference" title="Bellocq, C., van Ginneken, A. C. G., Bezzina, C. R., Alders, M., Escande, D., Mannens, M. M. A. M., Baro, I., Wilde, A. A. M. <strong>Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.</strong> Circulation 109: 2394-2397, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159330</a>] [<a href="https://doi.org/10.1161/01.CIR.0000130409.72142.FE" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159330">Bellocq et al. (2004)</a> identified a missense mutation in the KCNQ1 gene (V307L; <a href="/entry/607542#0037">607542.0037</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female infant with a short QT interval, AF, and bradycardia, <a href="#2" class="mim-tip-reference" title="Hong, K., Piper, D. R., Diaz-Valdecantos, A., Brugada, J., Oliva, A., Burashnikov, E., Santos-de-Soto, J., Grueso-Montero, J., Diaz-Enfante, E., Brugada, P., Sachse, F., Sanguinetti, M. C., Brugada, R. <strong>De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.</strong> Cardiovasc. Res. 68: 433-440, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16109388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16109388</a>] [<a href="https://doi.org/10.1016/j.cardiores.2005.06.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16109388">Hong et al. (2005)</a> analyzed the KCNQ1 gene and identified heterozygosity for a de novo missense mutation (V141M; <a href="/entry/607542#0045">607542.0045</a>). Functional analysis in Xenopus oocytes indicated that the mutant channels were constitutively open. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16109388" 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 2 unrelated girls with short QT intervals, AF, and bradycardia, <a href="#5" class="mim-tip-reference" title="Villafane, J., Fischbach, P., Gebauer, R. <strong>Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia.</strong> Cardiology 128: 236-240, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24818999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24818999</a>] [<a href="https://doi.org/10.1159/000360758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24818999">Villafane et al. (2014)</a> identified heterozygosity for the V141M mutation in the KCNQ1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24818999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 23-year-old man with a slightly shortened QT interval, who was negative for mutation in 6 channelopathy-associated genes, <a href="#3" class="mim-tip-reference" title="Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C. <strong>A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.</strong> Cardiovasc. Res. 107: 613-623, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26168993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26168993</a>] [<a href="https://doi.org/10.1093/cvr/cvv196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26168993">Moreno et al. (2015)</a> identified heterozygosity for a missense mutation in the KCNQ1 gene (F279I; <a href="/entry/607542#0046">607542.0046</a>). The mutation was not found in his unaffected sister or mother; DNA was unavailable from his father, who had died unexpectedly at age 37 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26168993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Schimpf, R., Wolpert, C., Gaita, F., Giustetto, C., Borggrefe, M. <strong>Short QT syndrome.</strong> Cardiovasc. Res. 67: 357-366, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15890322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15890322</a>] [<a href="https://doi.org/10.1016/j.cardiores.2005.03.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15890322">Schimpf et al. (2005)</a> reviewed the clinical, electrophysiologic, and molecular features of 15 reported cases and 2 unpublished cases of short QT syndrome types 1, 2, and 3 (<a href="/entry/609622">609622</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15890322" 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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Circulation 109: 2394-2397, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hong, K., Piper, D. R., Diaz-Valdecantos, A., Brugada, J., Oliva, A., Burashnikov, E., Santos-de-Soto, J., Grueso-Montero, J., Diaz-Enfante, E., Brugada, P., Sachse, F., Sanguinetti, M. C., Brugada, R.
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Cardiovasc. Res. 68: 433-440, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16109388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16109388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16109388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C.
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Cardiovasc. Res. 107: 613-623, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26168993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26168993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26168993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15890322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15890322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15890322" 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.cardiores.2005.03.026" target="_blank">Full Text</a>]
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<a id="Villafane2014" class="mim-anchor"></a>
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<p class="mim-text-font">
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Villafane, J., Fischbach, P., Gebauer, R.
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<strong>Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia.</strong>
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Cardiology 128: 236-240, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24818999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24818999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24818999" 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/10.1159/000360758" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 02/09/2017
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Marla J. F. O'Neill : 9/29/2005
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carol : 02/09/2017
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mcolton : 08/18/2015<br>carol : 8/17/2015<br>carol : 8/14/2015<br>carol : 8/14/2015<br>wwang : 9/29/2005
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<strong>ORPHA:</strong> 51083;
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<strong>DO:</strong> 0050793;
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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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11p15.5-p15.4
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Short QT syndrome 2
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609621
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Autosomal dominant
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3
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KCNQ1
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607542
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<p>A number sign (#) is used with this entry because of evidence that short QT syndrome-2 (SQT2) is caused by heterozygous mutation in the KCNQ1 gene (607542) on chromosome 11p15.</p>
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<p>Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). </p><p>For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620).</p>
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<p>Bellocq et al. (2004) reported a 70-year-old man who was successfully resuscitated after an episode of ventricular fibrillation. A short QT interval on a subsequent ECG (290 ms) and on every ECG through 3 years of follow-up was noted. He had no prior symptoms and no other physical or physiologic abnormalities, and his family history was unremarkable. </p><p>Hong et al. (2005) studied a female infant who was delivered at 28 weeks of gestation due to fetal bradycardia and irregular rhythm. At birth she had a normal physical exam apart from bradycardia at 60 beats per minute (bpm). ECG showed atrial fibrillation (AF) with slow ventricular response and short QT interval (280 ms). Electrical cardioversion did not terminate the AF. At follow-up her heart was growing normally and she remained asymptomatic, although ECG showed conduction block with ventricular escape rhythms. Family evaluation was negative except for a great-grandparent who developed AF at an advanced age, and thus it was not considered to represent familial AF. </p><p>Villafane et al. (2014) reported 2 girls with short QT intervals, AF, and bradycardia. The first was a 6.5-year-old girl who presented at birth with AF and a ventricular rate of 60 bpm, who was diagnosed with SQT at 4 months of age (QTc, 292 ms). She underwent placement of a ventricular pacemaker at age 6 days due to persistent marked bradycardia. Electrophysiologic testing showed coexisting sinus and AV node dysfunction. The second patient was a 9-year-old girl who was diagnosed with fetal bradycardia (55 bpm) at 24 weeks of gestation. At birth, AF was documented, with a QTc of 317 ms. Holter monitoring at 11 months of age showed AF with a slow ventricular response at 35 to 70 bpm. AF was refractory to DC cardioversion and multiple antiarrhythmic agents in both patients. Both were clinically asymptomatic and neither had structural heart disease. </p><p>Moreno et al. (2015) studied a 23-year-old man whose father died unexpectedly at age 37 years while working as a postman. The son, who was healthy and athletic, showed sinus bradycardia on ECG with a slightly shortened QTc interval of 356 ms. On exercise testing, his QTc shortened further, to 350 ms at maximum workload. Echocardiography and cardiac MRI revealed a normal heart, and no arrhythmias were detected on 24-hour Holter monitoring. </p>
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<strong>Molecular Genetics</strong>
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<p>In a 70-year-old man with short QT syndrome who survived an episode of ventricular fibrillation, Bellocq et al. (2004) identified a missense mutation in the KCNQ1 gene (V307L; 607542.0037). </p><p>In a female infant with a short QT interval, AF, and bradycardia, Hong et al. (2005) analyzed the KCNQ1 gene and identified heterozygosity for a de novo missense mutation (V141M; 607542.0045). Functional analysis in Xenopus oocytes indicated that the mutant channels were constitutively open. </p><p>In 2 unrelated girls with short QT intervals, AF, and bradycardia, Villafane et al. (2014) identified heterozygosity for the V141M mutation in the KCNQ1 gene. </p><p>In a 23-year-old man with a slightly shortened QT interval, who was negative for mutation in 6 channelopathy-associated genes, Moreno et al. (2015) identified heterozygosity for a missense mutation in the KCNQ1 gene (F279I; 607542.0046). The mutation was not found in his unaffected sister or mother; DNA was unavailable from his father, who had died unexpectedly at age 37 years. </p><p><strong><em>Reviews</em></strong></p><p>
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Schimpf et al. (2005) reviewed the clinical, electrophysiologic, and molecular features of 15 reported cases and 2 unpublished cases of short QT syndrome types 1, 2, and 3 (609622). </p>
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<strong>REFERENCES</strong>
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Bellocq, C., van Ginneken, A. C. G., Bezzina, C. R., Alders, M., Escande, D., Mannens, M. M. A. M., Baro, I., Wilde, A. A. M.
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<strong>Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.</strong>
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Circulation 109: 2394-2397, 2004.
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[PubMed: 15159330]
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[Full Text: https://doi.org/10.1161/01.CIR.0000130409.72142.FE]
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Hong, K., Piper, D. R., Diaz-Valdecantos, A., Brugada, J., Oliva, A., Burashnikov, E., Santos-de-Soto, J., Grueso-Montero, J., Diaz-Enfante, E., Brugada, P., Sachse, F., Sanguinetti, M. C., Brugada, R.
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<strong>De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.</strong>
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Cardiovasc. Res. 68: 433-440, 2005.
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[PubMed: 16109388]
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[Full Text: https://doi.org/10.1016/j.cardiores.2005.06.023]
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Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C.
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<strong>A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.</strong>
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Cardiovasc. Res. 107: 613-623, 2015.
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[PubMed: 26168993]
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[Full Text: https://doi.org/10.1093/cvr/cvv196]
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Schimpf, R., Wolpert, C., Gaita, F., Giustetto, C., Borggrefe, M.
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<strong>Short QT syndrome.</strong>
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Cardiovasc. Res. 67: 357-366, 2005.
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[PubMed: 15890322]
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[Full Text: https://doi.org/10.1016/j.cardiores.2005.03.026]
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Villafane, J., Fischbach, P., Gebauer, R.
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<strong>Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia.</strong>
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Cardiology 128: 236-240, 2014.
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[PubMed: 24818999]
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[Full Text: https://doi.org/10.1159/000360758]
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 02/09/2017
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill : 9/29/2005
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/09/2017<br>mcolton : 08/18/2015<br>carol : 8/17/2015<br>carol : 8/14/2015<br>carol : 8/14/2015<br>wwang : 9/29/2005
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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