2965 lines
216 KiB
Text
2965 lines
216 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #217095 - CONOTRUNCAL HEART MALFORMATIONS; CTHM
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=217095"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#217095</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cytogenetics">Cytogenetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=(CONOTRUNCAL HEART MALFORMATIONS) OR (TBX1 OR NKX2-5 OR NKX2-6 OR GATA6)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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>
|
|
<div id="mimEuroGentestFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1026&Typ=Pat" title="Conotruncal heart malformations" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Conotruncal heart malforma… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2997&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Common arterial trunk </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3450&Typ=Pat" title="Double outlet right ventricle" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Double outlet right ventri… </a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/1884" 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>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=217095[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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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>
|
|
<div id="mimOrphanetFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2445" title="Conotruncal heart malformations" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Conotruncal heart malforma…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Common arterial trunk</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3426" title="Double outlet right ventricle" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Double outlet right ventri…</a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/2844eb45-6468-4cac-b6ec-b38690e82ac6/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/disease/DOID:6406" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/disease/217095" 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>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://omia.org/results?search_type=advanced&omia_id=000224,001218,002559" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://wormbase.org/resources/disease/DOID:6406" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:217095" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<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.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<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">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 61959006, 7484005, 787779000<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q20.0, Q20.1<br />
|
|
|
|
|
|
<strong>ICD9CM:</strong> 745.0, 745.11<br />
|
|
|
|
|
|
<strong>ORPHA:</strong> 2445, 3384, 3426<br />
|
|
|
|
|
|
<strong>DO:</strong> 6406<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
217095
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CONOTRUNCAL HEART MALFORMATIONS; CTHM
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED; CAFS, INCLUDED<br />
|
|
DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED; DORV, INCLUDED<br />
|
|
PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED; PTA, INCLUDED<br />
|
|
INTERRUPTED AORTIC ARCH, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/772?start=-3&limit=10&highlight=772">
|
|
5q35.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Conotruncal heart malformations, variable
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/217095"> 217095 </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">
|
|
NKX2-5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600584"> 600584 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/131?start=-3&limit=10&highlight=131">
|
|
8p21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Conotruncal heart malformations
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/217095"> 217095 </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">
|
|
NKX2-6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611770"> 611770 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/8/131?start=-3&limit=10&highlight=131">
|
|
8p21.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Persistent truncus arteriosus
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/217095"> 217095 </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">
|
|
NKX2-6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611770"> 611770 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/18/88?start=-3&limit=10&highlight=88">
|
|
18q11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Persistent truncus arteriosus
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/217095"> 217095 </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">
|
|
GATA6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601656"> 601656 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/22/48?start=-3&limit=10&highlight=48">
|
|
22q11.21
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Conotruncal anomaly face syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/217095"> 217095 </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">
|
|
TBX1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602054"> 602054 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<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/217095" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/217095" 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>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that various conotruncal heart malformations can be caused by mutation in one of several genes. A mutation in the TBX1 gene (<a href="/entry/602054">602054</a>) has been found in individuals with conotruncal anomaly face syndrome (CAFS). Mutation in the NKX2-6 gene (<a href="/entry/611770">611770</a>) has been identified in 2 consanguineous families with conotruncal heart malformations, including persistent truncus arteriosus (PTA). Mutation in the NKX2-5 gene (<a href="/entry/600584">600584</a>) has been found in a patient with interrupted aortic arch and in a patient with PTA. Mutation in the GATA6 gene (<a href="/entry/601656">601656</a>) has been found in patients with PTA. Mutation in the ZFPM2 gene (<a href="/entry/603693">603693</a>) has been identified in patients with DORV.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In a study of the families of children with cardiac malformations, <a href="#12" class="mim-tip-reference" title="Pierpont, M. E. M., Gobel, J. W., Moller, J. H., Edwards, J. E. <strong>Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch.</strong> Am. J. Cardiol. 61: 423-427, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3341225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3341225</a>] [<a href="https://doi.org/10.1016/0002-9149(88)90298-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3341225">Pierpont et al. (1988)</a> found that conotruncal malformations carry a higher recurrence risk than other cardiac defects and proposed a monogenic mode of inheritance. <a href="#13" class="mim-tip-reference" title="Rein, A. J. J. T., Dollberg, S., Gale, R. <strong>Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations.</strong> Am. J. Med. Genet. 36: 353-355, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2194395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2194395</a>] [<a href="https://doi.org/10.1002/ajmg.1320360322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2194395">Rein et al. (1990)</a> described a large kindred in which 2 sibs had truncus arteriosus communis, a first cousin once removed had transposition of the great arteries (TGA; see <a href="/entry/608808">608808</a>), and a second cousin had double-outlet right ventricle. <a href="#14" class="mim-tip-reference" title="Rein, A. J. J. T., Sheffer, R. <strong>Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance. (Letter)</strong> Am. J. Med. Genet. 50: 302-303, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8042678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8042678</a>] [<a href="https://doi.org/10.1002/ajmg.1320500317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8042678">Rein and Sheffer (1994)</a> reported 2 additional sibs with conotruncal malformations born into the consanguineous kindred they had previously reported. <a href="#7" class="mim-tip-reference" title="Le Marec, B., Odent, S., Almange, C., Journel, H., Roussey, M., Defawe, G. <strong>Le truncus arteriosus: une maladie autosomique recessive?</strong> J. Genet. Hum. 37: 225-230, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2625625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2625625</a>]" pmid="2625625">Le Marec et al. (1989)</a> had raised the question of autosomal recessive inheritance of truncus arteriosus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3341225+2194395+8042678+2625625" 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>Typical facial features of conotruncal anomaly face syndrome (CAFS) are ocular hypertelorism (with increased interpupillary distance due to increased separation of the inner canthi), short palpebral fissures, 'bloated' eyelids, a low nasal bridge, a small mouth, and minor ear lobe anomalies. These features are almost always associated with nasal voice (often associated with cleft palate/submucosal cleft palate/bifid uvula) and mild mental retardation (frequently associated with developmental retardation and, occasionally, dwarfism), and often associated with cardiovascular anomalies. The cardiovascular anomalies in patients with the conotruncal anomaly face syndrome mainly consist of cardiac outflow tract defects, such as tetralogy of Fallot (TOF; <a href="/entry/187500">187500</a>), pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies. Some patients also have hypocalcemia, especially in the neonatal period (sometimes associated with hypoparathyroidism), and thymic aplasia or hypoplasia (<a href="#8" class="mim-tip-reference" title="Matsuoka, R., Kimura, M., Scambler, P. J., Morrow, B. E., Imamura, S., Minoshima, S., Shimuzu, N., Yamagishi, H., Joh-o, K., Watanabe, S., Oyama, K., Saji, T., Ando, M., Takao, A., Momma, K. <strong>Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.</strong> Hum. Genet. 103: 70-80, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737780</a>] [<a href="https://doi.org/10.1007/s004390050786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9737780">Matsuoka et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737780" 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>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Conotruncal heart malformations may be components of certain syndromes, e.g., DiGeorge syndrome (<a href="/entry/188400">188400</a>), the velocardiofacial syndrome (<a href="/entry/192430">192430</a>), and genitopalatocardiac syndrome (<a href="/entry/231060">231060</a>). Using DNA markers, <a href="#4" class="mim-tip-reference" title="Emanuel, B. S., Budarf, M. L., Sellinger, B., Goldmuntz, E., Driscoll, D. A. <strong>Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge syndrome (DGS), velo-cardio-facial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A3, 1992."None>Emanuel et al. (1992)</a> found loss of heterozygosity indicating microdeletions of chromosome 22q11.2 in 30% of isolated conotruncal anomalies. These results were confirmed by fluorescence in situ hybridization (FISH).</p><p><a href="#9" class="mim-tip-reference" title="Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joh-o, K., Ikeda, K., Nishibatake, M., Ando, M., Momma, K. <strong>Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.</strong> Am. J. Med. Genet. 53: 285-289, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7856665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7856665</a>] [<a href="https://doi.org/10.1002/ajmg.1320530314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7856665">Matsuoka et al. (1994)</a> performed FISH analysis using the D22S75 DiGeorge critical region probe (DGCR) in 50 CAFS patients, 11 parent couples, and 10 mothers of CAFS patients. Monosomy for the region 22q11.2 was found in 42 CAFS patients and in 4 mothers and 1 father who had CAFS without congenital heart disease. No deletion of 22q11.2 was found in 60 patients who had congenital heart disease without CAFS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7856665" 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>Conotruncal defects (CTD) account for a fourth to a third of all nonsyndromic congenital heart defects. <a href="#2" class="mim-tip-reference" title="Debrus, S., Berger, G., de Meeus, A., Sauer, U., Guillaumont, S., Viosin, M., Bozio, A., Demczuk, S., Aurias, A., Bouvagnet, P. <strong>Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.</strong> Hum. Genet. 97: 138-144, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8566942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8566942</a>] [<a href="https://doi.org/10.1007/BF02265254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8566942">Debrus et al. (1996)</a> searched for a 22q11 microdeletion in familial cases of nonsyndromic CTD. The study involved 36 cases of various isolated conotruncal defects, that is, without history of hypocalcemia, immune deficiency, absent thymus, or dysmorphic appearance. With 48F8, a cosmid probe localized in the smallest deleted region of the DiGeorge critical region, they found no deletions by FISH in these 36 affected individuals from 16 families. The second marker, D22S264, a microsatellite localized at the distal part of the largest deleted region, showed heterozygosity in 32 of 37 patients and hence was not related at this locus, whereas 5 markers were uninformative. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8566942" 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>To investigate molecular and clinical aspects of CAFS, <a href="#8" class="mim-tip-reference" title="Matsuoka, R., Kimura, M., Scambler, P. J., Morrow, B. E., Imamura, S., Minoshima, S., Shimuzu, N., Yamagishi, H., Joh-o, K., Watanabe, S., Oyama, K., Saji, T., Ando, M., Takao, A., Momma, K. <strong>Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.</strong> Hum. Genet. 103: 70-80, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737780</a>] [<a href="https://doi.org/10.1007/s004390050786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9737780">Matsuoka et al. (1998)</a> studied the correlation between deletion size and phenotype and the mode of inheritance in 183 CAFS patients. Hemizygosity for a region of 22q11.2 was found in 180 (98%) of the patients by FISH analysis using the D22S75 (N25) DGCR probe. No hemizygosity was found in 3 (2%) of the patients with CAFS by FISH using 9 DGCR probes and another probe from a related region. None of these 3 patients had mental retardation and only 1 had nasal speech, which was observed in almost all of the 180 CAFS patients who carried identified deletions (mental retardation in 92%; nasal voice in 88%). Familial CAFS was found in 19 (13%) of 143 families and 16 affected parents (84%) were mothers. Although only 2 of the affected parents had cardiovascular anomalies, the deletion size in the 16 affected parents and their affected family members, who were studied by FISH analysis, was the same. This indicated that extragenic factors may play a role in the genesis of phenotypic variability, especially in relation to cardiovascular anomalies. No familial cases were found among CAFS patients with absent thymus/DiGeorge anomaly (DGA). Also, in all 18 CAFS patients with completely absent thymus/DGA and in all 6 CAFS patients with schizophrenia, the deletion was found to be longer distally. In a study of the origin of the deletion using microsatellite analyses in 48 de novo patients, the mother was shown to be the source in 65% of CAFS patients, while the father was the source in 64% of DGA patients. In addition to the major features of CAFS, other notable extracardiac anomalies were susceptibility to infection, schizophrenia, atrophy or dysmorphism of the brain, thrombocytopenia, short stature, facial palsy, anal atresia, and mild limb abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737780" 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="#17" class="mim-tip-reference" title="Takahashi, K., Kido, S., Hoshino, K., Ogawa, K., Ohashi, H., Fukushima, Y. <strong>Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study.</strong> Europ. J. Pediat. 154: 878-881, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8582397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8582397</a>] [<a href="https://doi.org/10.1007/BF01957496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8582397">Takahashi et al. (1995)</a> found a submicroscopic deletion in 22q11 in 5 of 64 patients with a conotruncal heart malformation. <a href="#3" class="mim-tip-reference" title="Devriendt, K., Eyskens, B., Swillen, A., Dumoulin, M., Gewillig, M., Fryns, J.-P. <strong>The incidence of a deletion in chromosome 22q11 in sporadic and familial conotruncal heart disease.</strong> Europ. J. Pediat. 155: 721 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8839734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8839734</a>] [<a href="https://doi.org/10.1007/BF01957162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8839734">Devriendt et al. (1996)</a> prospectively analyzed 150 patients with a conotruncal heart disease for the presence of a del22q11 by means of FISH, using the probe DO832. Patients with a transposition of the great arteries were not included in this study. The main diagnoses were tetralogy of Fallot (105 patients), tetralogy of Fallot with additional cardiopathies (18 patients), and truncus arteriosus (6 patients). Among the 140 patients in whom blood culture was successful, 18 had a deletion (12.8%). All patients with the deletion showed additional clinical features of the velocardiofacial syndrome. In 7 of the 150 patients (4.6%), the family history was positive for the presence of a conotruncal heart defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8582397+8839734" 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="#15" class="mim-tip-reference" title="Saitta, S. C., McGrath, J. M., Mensch, H., Shaikh, T. H., Zackai, E. H., Emanuel, B. S. <strong>A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. (Letter)</strong> Am. J. Hum. Genet. 65: 562-566, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10417299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10417299</a>] [<a href="https://doi.org/10.1086/302514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10417299">Saitta et al. (1999)</a> identified a patient with CAFS who had a novel deletion of 22q11.2. His deletion was distal to the usual 3-Mb deletion found in most patients with velocardiofacial syndrome. The deletion did not overlap with any of the previously described 'minimal critical regions' for velocardiofacial syndrome/DiGeorge syndrome. The patient showed hypertelorism, posteriorly rotated ears, micrognathia, a loud cardiac murmur, hypospadias, descended testes, single palmar creases, and bilateral fifth-finger clinodactyly. The cardiac defect was truncus arteriosus type II and a ventricular septal defect. Borderline hypocalcemia was found. The deletion was found to exclude UFD1L (<a href="/entry/601754">601754</a>), raising questions about the role of this gene in the CATCH22 syndrome. The CDC45L gene (<a href="/entry/603465">603465</a>) was also excluded from the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10417299" 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>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#19" class="mim-tip-reference" title="Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R. <strong>Role of TBX1 in human del22q11.2 syndrome.</strong> Lancet 362: 1366-1373, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14585638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14585638</a>] [<a href="https://doi.org/10.1016/s0140-6736(03)14632-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14585638">Yagi et al. (2003)</a> identified mutations in the TBX1 gene (<a href="/entry/602054#0001">602054.0001</a> and <a href="/entry/602054#0003">602054.0003</a>) in heterozygous state in 3 patients with phenotypes related to the 22q11.2 deletion syndrome (see <a href="/entry/188400">188400</a>), including CAFS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14585638" 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 1 (4%) of 23 patients with interrupted aortic arch and 1 (4%) of 22 patients with truncus arteriosus, <a href="#10" class="mim-tip-reference" title="McElhinney, D. B., Geiger, E., Blinder, J., Benson, D. W., Goldmuntz, E. <strong>NKX2.5 mutations in patients with congenital heart disease.</strong> J. Am. Coll. Cardiol. 42: 1650-1655, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14607454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14607454</a>] [<a href="https://doi.org/10.1016/j.jacc.2003.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14607454">McElhinney et al. (2003)</a> identified heterozygosity for a missense mutation in the NKX2-5 gene (R25C; <a href="/entry/600584#0004">600584.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14607454" 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="Heathcote, K., Braybrook, C., Abushaban, L., Guy, M., Khetyar, M. E., Patton, M. A., Carter, N. D., Scambler, P. J., Syrris, P. <strong>Common arterial trunk associated with a homeodomain mutation of NKX2.6.</strong> Hum. Molec. Genet. 14: 585-593, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649947</a>] [<a href="https://doi.org/10.1093/hmg/ddi055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15649947">Heathcote et al. (2005)</a> used autozygosity mapping of a large consanguineous Kuwaiti family segregating PTA to map the causative locus to chromosome 8p21. They subsequently identified homozygosity for a missense mutation in the NKX2-6 gene (<a href="/entry/611770#0001">611770.0001</a>) in all affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649947" 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 3 sibs, born of consanguineous Palestinian parents, with conotruncal heart malformations, <a href="#16" class="mim-tip-reference" title="Ta-Shma, A., El-lahham, N., Edvardson, S., Stepensky, P., Nir, A., Perles, Z., Gavri, S., Golender, J., Yaakobi-Simhayoff, N., Shaag, A., Rein, A. J. J. T., Elpeleg, O. <strong>Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.</strong> J. Med. Genet. 51: 268-270, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24421281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24421281</a>] [<a href="https://doi.org/10.1136/jmedgenet-2013-102100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24421281">Ta-Shma et al. (2014)</a> identified a homozygous truncating mutation in the NKX2-6 gene (<a href="/entry/611770#0002">611770.0002</a>). The mutation was found by exome sequencing. Two patients had truncus arteriosus and 1 had a complex conotruncal defect with malalignment ventricular septal defect and aortic arch hypoplasia, as well as asymptomatic athymia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24421281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H. <strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong> Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666519[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/10.1073/pnas.0904744106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19666519">Kodo et al. (2009)</a> screened the genomes of 21 unrelated Japanese patients with nonsyndromic persistent truncus arteriosus and identified heterozygosity for a 2-bp deletion (<a href="/entry/601656#0001">601656.0001</a>) and a missense mutation (<a href="/entry/601656#0002">601656.0002</a>) in the GATA6 gene, respectively, in 2 probands. The 2-bp deletion was also present in the first proband's father and sister, both of whom had pulmonary stenosis. The sister also had patent ductus arteriosus and atrial septal defect. Atrial septal defect was also present in the first proband. The second proband's mutation occurred de novo, and neither was found in 182 Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19666519" 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 (15.4%) of 13 Italian patients with DORV, <a href="#1" class="mim-tip-reference" title="De Luca, A., Sarkozy, A., Ferese, R., Consoli, F., Lepri, F., Dentici, M. L., Vergara, P., De Zorzi, A., Versacci, P., Digilio, M. C., Marino, B., Dallapiccola, B. <strong>New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.</strong> Clin. Genet. 80: 184-190, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20807224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20807224</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01523.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20807224">De Luca et al. (2011)</a> identified heterozygosity for 2 different missense mutations in the ZFPM2 gene, E30G (<a href="/entry/603693#0002">603693.0002</a>) and I227V (<a href="/entry/603693#0006">603693.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20807224" 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 10-year-old Chinese boy with Langer-Giedion syndrome (<a href="/entry/150230">150230</a>) and DORV, <a href="#18" class="mim-tip-reference" title="Tan, Z.-P., Huang, C., Xu, Z.-B., Yang, J.-F., Yang, Y.-F. <strong>Novel ZFPM2/FG2 variants in patients with double outlet right ventricle.</strong> Clin. Genet. 82: 466-471, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21919901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21919901</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01787.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21919901">Tan et al. (2012)</a> identified a de novo balanced chromosomal translocation t(8; 18)(q22;q21) that appeared to disrupt the ZFPM2 gene on chromosome 8q23. Analysis of the ZFPM2 gene in 145 Chinese patients with conotruncal defects, including 95 with tetralogy of Fallot, 38 with sporadic DORV, and 12 with transposition of the great arteries, revealed 5 heterozygous missense mutations in patients with DORV (see, e.g., <a href="/entry/603693#0004">603693.0004</a> and <a href="/entry/603693#0008">603693.0008</a>) that were not found in 250 Chinese controls in whom conotruncal heart disease had been excluded by echocardiography. No mutations were identified in the patients with TOF or TGA. <a href="#18" class="mim-tip-reference" title="Tan, Z.-P., Huang, C., Xu, Z.-B., Yang, J.-F., Yang, Y.-F. <strong>Novel ZFPM2/FG2 variants in patients with double outlet right ventricle.</strong> Clin. Genet. 82: 466-471, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21919901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21919901</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01787.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21919901">Tan et al. (2012)</a> suggested that ZFPM2 variants might be a common cause of DORV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21919901" 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>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible relationship between variation in the NRP1 gene and truncus arteriosus, see <a href="/entry/602069#0001">602069.0001</a>.</p><p>For discussion of a possible relationship between variation in the PRKD1 gene and truncus arteriosus, see <a href="/entry/605435#0001">605435.0001</a>.</p><p>For discussion of a possible relationship between variation in the TBX2 gene and conotruncal heart defects, see <a href="/entry/600747">600747</a>.</p><p>For discussion of a possible relationship between variation in the TBX3 gene and conotruncal heart defects, see <a href="/entry/601621">601621</a>.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#11" class="mim-tip-reference" title="Patterson, D. F., Pexieder, T., Schnarr, W. R., Navratil, T., Alaili, R. <strong>A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of Keeshond dogs.</strong> Am. J. Hum. Genet. 52: 388-397, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8430699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8430699</a>]" pmid="8430699">Patterson et al. (1993)</a> studied the inheritance and embryology of conotruncal defects in the Keeshond breed of dogs. Defects in related Keeshonds included the same variety of conotruncal malformations found in man: conal ventricular septal defects, tetralogy of Fallot, and persistent truncus arteriosus type 1. In addition, some closely related dogs that were clinically normal had minor defects of the right ventricular outlet septum on postmortem examination. In initial breeding experiments inheritance of conotruncal defects was nonmendelian, but after selective inbreeding, results were consistent with a single gene defect. Penetrance was complete in homozygotes (conotruncal malformation of some degree present). Subclinical defects were present in 8% of heterozygotes. Embryologic studies showed that in affected embryos myocardial growth in the conotruncal region was retarded during the critical window when the conotruncal cushions fuse to form the conotruncal septum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8430699" 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>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="De Luca2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
De Luca, A., Sarkozy, A., Ferese, R., Consoli, F., Lepri, F., Dentici, M. L., Vergara, P., De Zorzi, A., Versacci, P., Digilio, M. C., Marino, B., Dallapiccola, B.
|
|
<strong>New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.</strong>
|
|
Clin. Genet. 80: 184-190, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20807224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20807224</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20807224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.2010.01523.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Debrus1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Debrus, S., Berger, G., de Meeus, A., Sauer, U., Guillaumont, S., Viosin, M., Bozio, A., Demczuk, S., Aurias, A., Bouvagnet, P.
|
|
<strong>Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.</strong>
|
|
Hum. Genet. 97: 138-144, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8566942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8566942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8566942" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02265254" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Devriendt1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Devriendt, K., Eyskens, B., Swillen, A., Dumoulin, M., Gewillig, M., Fryns, J.-P.
|
|
<strong>The incidence of a deletion in chromosome 22q11 in sporadic and familial conotruncal heart disease.</strong>
|
|
Europ. J. Pediat. 155: 721 only, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8839734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8839734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8839734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01957162" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Emanuel1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Emanuel, B. S., Budarf, M. L., Sellinger, B., Goldmuntz, E., Driscoll, D. A.
|
|
<strong>Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge syndrome (DGS), velo-cardio-facial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A3, 1992.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Heathcote2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Heathcote, K., Braybrook, C., Abushaban, L., Guy, M., Khetyar, M. E., Patton, M. A., Carter, N. D., Scambler, P. J., Syrris, P.
|
|
<strong>Common arterial trunk associated with a homeodomain mutation of NKX2.6.</strong>
|
|
Hum. Molec. Genet. 14: 585-593, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15649947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15649947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15649947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddi055" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Kodo2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H.
|
|
<strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong>
|
|
Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19666519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19666519</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19666519[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=19666519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0904744106" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Le Marec1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Le Marec, B., Odent, S., Almange, C., Journel, H., Roussey, M., Defawe, G.
|
|
<strong>Le truncus arteriosus: une maladie autosomique recessive?</strong>
|
|
J. Genet. Hum. 37: 225-230, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2625625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2625625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2625625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Matsuoka1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matsuoka, R., Kimura, M., Scambler, P. J., Morrow, B. E., Imamura, S., Minoshima, S., Shimuzu, N., Yamagishi, H., Joh-o, K., Watanabe, S., Oyama, K., Saji, T., Ando, M., Takao, A., Momma, K.
|
|
<strong>Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.</strong>
|
|
Hum. Genet. 103: 70-80, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390050786" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Matsuoka1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joh-o, K., Ikeda, K., Nishibatake, M., Ando, M., Momma, K.
|
|
<strong>Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.</strong>
|
|
Am. J. Med. Genet. 53: 285-289, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7856665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7856665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7856665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320530314" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="McElhinney2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McElhinney, D. B., Geiger, E., Blinder, J., Benson, D. W., Goldmuntz, E.
|
|
<strong>NKX2.5 mutations in patients with congenital heart disease.</strong>
|
|
J. Am. Coll. Cardiol. 42: 1650-1655, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14607454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14607454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14607454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.jacc.2003.05.004" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Patterson1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Patterson, D. F., Pexieder, T., Schnarr, W. R., Navratil, T., Alaili, R.
|
|
<strong>A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of Keeshond dogs.</strong>
|
|
Am. J. Hum. Genet. 52: 388-397, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8430699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8430699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8430699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Pierpont1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pierpont, M. E. M., Gobel, J. W., Moller, J. H., Edwards, J. E.
|
|
<strong>Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch.</strong>
|
|
Am. J. Cardiol. 61: 423-427, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3341225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3341225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3341225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9149(88)90298-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Rein1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rein, A. J. J. T., Dollberg, S., Gale, R.
|
|
<strong>Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations.</strong>
|
|
Am. J. Med. Genet. 36: 353-355, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2194395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2194395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2194395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320360322" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Rein1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rein, A. J. J. T., Sheffer, R.
|
|
<strong>Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance. (Letter)</strong>
|
|
Am. J. Med. Genet. 50: 302-303, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8042678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8042678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8042678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320500317" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Saitta1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saitta, S. C., McGrath, J. M., Mensch, H., Shaikh, T. H., Zackai, E. H., Emanuel, B. S.
|
|
<strong>A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. (Letter)</strong>
|
|
Am. J. Hum. Genet. 65: 562-566, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10417299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10417299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10417299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/302514" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Ta-Shma2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ta-Shma, A., El-lahham, N., Edvardson, S., Stepensky, P., Nir, A., Perles, Z., Gavri, S., Golender, J., Yaakobi-Simhayoff, N., Shaag, A., Rein, A. J. J. T., Elpeleg, O.
|
|
<strong>Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.</strong>
|
|
J. Med. Genet. 51: 268-270, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24421281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24421281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24421281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmedgenet-2013-102100" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Takahashi1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takahashi, K., Kido, S., Hoshino, K., Ogawa, K., Ohashi, H., Fukushima, Y.
|
|
<strong>Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study.</strong>
|
|
Europ. J. Pediat. 154: 878-881, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8582397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8582397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8582397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01957496" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Tan2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tan, Z.-P., Huang, C., Xu, Z.-B., Yang, J.-F., Yang, Y.-F.
|
|
<strong>Novel ZFPM2/FG2 variants in patients with double outlet right ventricle.</strong>
|
|
Clin. Genet. 82: 466-471, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21919901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21919901</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21919901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.2011.01787.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Yagi2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R.
|
|
<strong>Role of TBX1 in human del22q11.2 syndrome.</strong>
|
|
Lancet 362: 1366-1373, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14585638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14585638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14585638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(03)14632-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 04/18/2018
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 05/16/2016<br>Cassandra L. Kniffin - updated : 11/12/2015<br>Cassandra L. Kniffin - updated : 6/4/2014<br>Marla J. F. O'Neill - updated : 2/11/2013<br>Marla J. F. O'Neill - updated : 2/9/2012<br>Marla J. F. O'Neill - updated : 1/17/2012<br>Marla J. F. O'Neill - updated : 3/30/2009<br>George E. Tiller - updated : 2/5/2008<br>Victor A. McKusick - updated : 12/23/2003<br>Victor A. McKusick - updated : 3/22/2002<br>Victor A. McKusick - updated : 2/16/2000<br>Victor A. McKusick - updated : 8/19/1998<br>Iosif W. Lurie - updated : 8/5/1997<br>Moyra Smith - updated : 10/7/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/27/1990
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 12/04/2023
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 03/22/2023<br>alopez : 09/21/2022<br>carol : 04/18/2018<br>alopez : 02/16/2018<br>carol : 10/03/2016<br>alopez : 05/16/2016<br>carol : 11/16/2015<br>ckniffin : 11/12/2015<br>carol : 11/11/2015<br>alopez : 7/13/2015<br>carol : 6/5/2014<br>ckniffin : 6/4/2014<br>carol : 2/11/2013<br>carol : 2/9/2012<br>carol : 1/17/2012<br>terry : 6/23/2009<br>wwang : 4/2/2009<br>terry : 3/30/2009<br>wwang : 2/6/2008<br>terry : 2/5/2008<br>alopez : 10/16/2007<br>terry : 11/10/2005<br>carol : 7/20/2004<br>carol : 2/12/2004<br>terry : 12/23/2003<br>carol : 5/29/2003<br>alopez : 3/28/2002<br>terry : 3/22/2002<br>carol : 1/16/2002<br>mgross : 2/16/2000<br>carol : 8/24/1998<br>terry : 8/19/1998<br>jenny : 8/5/1997<br>terry : 11/14/1996<br>terry : 11/12/1996<br>mark : 10/7/1996<br>mark : 3/14/1996<br>terry : 2/29/1996<br>mark : 2/15/1996<br>mark : 2/13/1996<br>carol : 12/21/1994<br>mimadm : 2/19/1994<br>carol : 1/19/1993<br>carol : 12/31/1992<br>carol : 11/19/1992<br>supermim : 3/16/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 217095
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CONOTRUNCAL HEART MALFORMATIONS; CTHM
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED; CAFS, INCLUDED<br />
|
|
DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED; DORV, INCLUDED<br />
|
|
PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED; PTA, INCLUDED<br />
|
|
INTERRUPTED AORTIC ARCH, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 61959006, 7484005, 787779000;
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q20.0, Q20.1;
|
|
|
|
|
|
<strong>ICD9CM:</strong> 745.0, 745.11;
|
|
|
|
|
|
<strong>ORPHA:</strong> 2445, 3384, 3426;
|
|
|
|
|
|
<strong>DO:</strong> 6406;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
5q35.1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Conotruncal heart malformations, variable
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
217095
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
NKX2-5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600584
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
8p21.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Conotruncal heart malformations
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
217095
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
NKX2-6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
611770
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
8p21.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Persistent truncus arteriosus
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
217095
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
NKX2-6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
611770
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
18q11.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Persistent truncus arteriosus
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
217095
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GATA6
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601656
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
22q11.21
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Conotruncal anomaly face syndrome
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
217095
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
TBX1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
602054
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that various conotruncal heart malformations can be caused by mutation in one of several genes. A mutation in the TBX1 gene (602054) has been found in individuals with conotruncal anomaly face syndrome (CAFS). Mutation in the NKX2-6 gene (611770) has been identified in 2 consanguineous families with conotruncal heart malformations, including persistent truncus arteriosus (PTA). Mutation in the NKX2-5 gene (600584) has been found in a patient with interrupted aortic arch and in a patient with PTA. Mutation in the GATA6 gene (601656) has been found in patients with PTA. Mutation in the ZFPM2 gene (603693) has been identified in patients with DORV.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a study of the families of children with cardiac malformations, Pierpont et al. (1988) found that conotruncal malformations carry a higher recurrence risk than other cardiac defects and proposed a monogenic mode of inheritance. Rein et al. (1990) described a large kindred in which 2 sibs had truncus arteriosus communis, a first cousin once removed had transposition of the great arteries (TGA; see 608808), and a second cousin had double-outlet right ventricle. Rein and Sheffer (1994) reported 2 additional sibs with conotruncal malformations born into the consanguineous kindred they had previously reported. Le Marec et al. (1989) had raised the question of autosomal recessive inheritance of truncus arteriosus. </p><p>Typical facial features of conotruncal anomaly face syndrome (CAFS) are ocular hypertelorism (with increased interpupillary distance due to increased separation of the inner canthi), short palpebral fissures, 'bloated' eyelids, a low nasal bridge, a small mouth, and minor ear lobe anomalies. These features are almost always associated with nasal voice (often associated with cleft palate/submucosal cleft palate/bifid uvula) and mild mental retardation (frequently associated with developmental retardation and, occasionally, dwarfism), and often associated with cardiovascular anomalies. The cardiovascular anomalies in patients with the conotruncal anomaly face syndrome mainly consist of cardiac outflow tract defects, such as tetralogy of Fallot (TOF; 187500), pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies. Some patients also have hypocalcemia, especially in the neonatal period (sometimes associated with hypoparathyroidism), and thymic aplasia or hypoplasia (Matsuoka et al., 1998). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Conotruncal heart malformations may be components of certain syndromes, e.g., DiGeorge syndrome (188400), the velocardiofacial syndrome (192430), and genitopalatocardiac syndrome (231060). Using DNA markers, Emanuel et al. (1992) found loss of heterozygosity indicating microdeletions of chromosome 22q11.2 in 30% of isolated conotruncal anomalies. These results were confirmed by fluorescence in situ hybridization (FISH).</p><p>Matsuoka et al. (1994) performed FISH analysis using the D22S75 DiGeorge critical region probe (DGCR) in 50 CAFS patients, 11 parent couples, and 10 mothers of CAFS patients. Monosomy for the region 22q11.2 was found in 42 CAFS patients and in 4 mothers and 1 father who had CAFS without congenital heart disease. No deletion of 22q11.2 was found in 60 patients who had congenital heart disease without CAFS. </p><p>Conotruncal defects (CTD) account for a fourth to a third of all nonsyndromic congenital heart defects. Debrus et al. (1996) searched for a 22q11 microdeletion in familial cases of nonsyndromic CTD. The study involved 36 cases of various isolated conotruncal defects, that is, without history of hypocalcemia, immune deficiency, absent thymus, or dysmorphic appearance. With 48F8, a cosmid probe localized in the smallest deleted region of the DiGeorge critical region, they found no deletions by FISH in these 36 affected individuals from 16 families. The second marker, D22S264, a microsatellite localized at the distal part of the largest deleted region, showed heterozygosity in 32 of 37 patients and hence was not related at this locus, whereas 5 markers were uninformative. </p><p>To investigate molecular and clinical aspects of CAFS, Matsuoka et al. (1998) studied the correlation between deletion size and phenotype and the mode of inheritance in 183 CAFS patients. Hemizygosity for a region of 22q11.2 was found in 180 (98%) of the patients by FISH analysis using the D22S75 (N25) DGCR probe. No hemizygosity was found in 3 (2%) of the patients with CAFS by FISH using 9 DGCR probes and another probe from a related region. None of these 3 patients had mental retardation and only 1 had nasal speech, which was observed in almost all of the 180 CAFS patients who carried identified deletions (mental retardation in 92%; nasal voice in 88%). Familial CAFS was found in 19 (13%) of 143 families and 16 affected parents (84%) were mothers. Although only 2 of the affected parents had cardiovascular anomalies, the deletion size in the 16 affected parents and their affected family members, who were studied by FISH analysis, was the same. This indicated that extragenic factors may play a role in the genesis of phenotypic variability, especially in relation to cardiovascular anomalies. No familial cases were found among CAFS patients with absent thymus/DiGeorge anomaly (DGA). Also, in all 18 CAFS patients with completely absent thymus/DGA and in all 6 CAFS patients with schizophrenia, the deletion was found to be longer distally. In a study of the origin of the deletion using microsatellite analyses in 48 de novo patients, the mother was shown to be the source in 65% of CAFS patients, while the father was the source in 64% of DGA patients. In addition to the major features of CAFS, other notable extracardiac anomalies were susceptibility to infection, schizophrenia, atrophy or dysmorphism of the brain, thrombocytopenia, short stature, facial palsy, anal atresia, and mild limb abnormalities. </p><p>Takahashi et al. (1995) found a submicroscopic deletion in 22q11 in 5 of 64 patients with a conotruncal heart malformation. Devriendt et al. (1996) prospectively analyzed 150 patients with a conotruncal heart disease for the presence of a del22q11 by means of FISH, using the probe DO832. Patients with a transposition of the great arteries were not included in this study. The main diagnoses were tetralogy of Fallot (105 patients), tetralogy of Fallot with additional cardiopathies (18 patients), and truncus arteriosus (6 patients). Among the 140 patients in whom blood culture was successful, 18 had a deletion (12.8%). All patients with the deletion showed additional clinical features of the velocardiofacial syndrome. In 7 of the 150 patients (4.6%), the family history was positive for the presence of a conotruncal heart defect. </p><p>Saitta et al. (1999) identified a patient with CAFS who had a novel deletion of 22q11.2. His deletion was distal to the usual 3-Mb deletion found in most patients with velocardiofacial syndrome. The deletion did not overlap with any of the previously described 'minimal critical regions' for velocardiofacial syndrome/DiGeorge syndrome. The patient showed hypertelorism, posteriorly rotated ears, micrognathia, a loud cardiac murmur, hypospadias, descended testes, single palmar creases, and bilateral fifth-finger clinodactyly. The cardiac defect was truncus arteriosus type II and a ventricular septal defect. Borderline hypocalcemia was found. The deletion was found to exclude UFD1L (601754), raising questions about the role of this gene in the CATCH22 syndrome. The CDC45L gene (603465) was also excluded from the deletion. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yagi et al. (2003) identified mutations in the TBX1 gene (602054.0001 and 602054.0003) in heterozygous state in 3 patients with phenotypes related to the 22q11.2 deletion syndrome (see 188400), including CAFS. </p><p>In 1 (4%) of 23 patients with interrupted aortic arch and 1 (4%) of 22 patients with truncus arteriosus, McElhinney et al. (2003) identified heterozygosity for a missense mutation in the NKX2-5 gene (R25C; 600584.0004). </p><p>Heathcote et al. (2005) used autozygosity mapping of a large consanguineous Kuwaiti family segregating PTA to map the causative locus to chromosome 8p21. They subsequently identified homozygosity for a missense mutation in the NKX2-6 gene (611770.0001) in all affected individuals. </p><p>In 3 sibs, born of consanguineous Palestinian parents, with conotruncal heart malformations, Ta-Shma et al. (2014) identified a homozygous truncating mutation in the NKX2-6 gene (611770.0002). The mutation was found by exome sequencing. Two patients had truncus arteriosus and 1 had a complex conotruncal defect with malalignment ventricular septal defect and aortic arch hypoplasia, as well as asymptomatic athymia. </p><p>Kodo et al. (2009) screened the genomes of 21 unrelated Japanese patients with nonsyndromic persistent truncus arteriosus and identified heterozygosity for a 2-bp deletion (601656.0001) and a missense mutation (601656.0002) in the GATA6 gene, respectively, in 2 probands. The 2-bp deletion was also present in the first proband's father and sister, both of whom had pulmonary stenosis. The sister also had patent ductus arteriosus and atrial septal defect. Atrial septal defect was also present in the first proband. The second proband's mutation occurred de novo, and neither was found in 182 Japanese controls. </p><p>In 2 (15.4%) of 13 Italian patients with DORV, De Luca et al. (2011) identified heterozygosity for 2 different missense mutations in the ZFPM2 gene, E30G (603693.0002) and I227V (603693.0006). </p><p>In a 10-year-old Chinese boy with Langer-Giedion syndrome (150230) and DORV, Tan et al. (2012) identified a de novo balanced chromosomal translocation t(8; 18)(q22;q21) that appeared to disrupt the ZFPM2 gene on chromosome 8q23. Analysis of the ZFPM2 gene in 145 Chinese patients with conotruncal defects, including 95 with tetralogy of Fallot, 38 with sporadic DORV, and 12 with transposition of the great arteries, revealed 5 heterozygous missense mutations in patients with DORV (see, e.g., 603693.0004 and 603693.0008) that were not found in 250 Chinese controls in whom conotruncal heart disease had been excluded by echocardiography. No mutations were identified in the patients with TOF or TGA. Tan et al. (2012) suggested that ZFPM2 variants might be a common cause of DORV. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible relationship between variation in the NRP1 gene and truncus arteriosus, see 602069.0001.</p><p>For discussion of a possible relationship between variation in the PRKD1 gene and truncus arteriosus, see 605435.0001.</p><p>For discussion of a possible relationship between variation in the TBX2 gene and conotruncal heart defects, see 600747.</p><p>For discussion of a possible relationship between variation in the TBX3 gene and conotruncal heart defects, see 601621.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Patterson et al. (1993) studied the inheritance and embryology of conotruncal defects in the Keeshond breed of dogs. Defects in related Keeshonds included the same variety of conotruncal malformations found in man: conal ventricular septal defects, tetralogy of Fallot, and persistent truncus arteriosus type 1. In addition, some closely related dogs that were clinically normal had minor defects of the right ventricular outlet septum on postmortem examination. In initial breeding experiments inheritance of conotruncal defects was nonmendelian, but after selective inbreeding, results were consistent with a single gene defect. Penetrance was complete in homozygotes (conotruncal malformation of some degree present). Subclinical defects were present in 8% of heterozygotes. Embryologic studies showed that in affected embryos myocardial growth in the conotruncal region was retarded during the critical window when the conotruncal cushions fuse to form the conotruncal septum. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Luca, A., Sarkozy, A., Ferese, R., Consoli, F., Lepri, F., Dentici, M. L., Vergara, P., De Zorzi, A., Versacci, P., Digilio, M. C., Marino, B., Dallapiccola, B.
|
|
<strong>New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.</strong>
|
|
Clin. Genet. 80: 184-190, 2011.
|
|
|
|
|
|
[PubMed: 20807224]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01523.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Debrus, S., Berger, G., de Meeus, A., Sauer, U., Guillaumont, S., Viosin, M., Bozio, A., Demczuk, S., Aurias, A., Bouvagnet, P.
|
|
<strong>Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion.</strong>
|
|
Hum. Genet. 97: 138-144, 1996.
|
|
|
|
|
|
[PubMed: 8566942]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02265254]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Devriendt, K., Eyskens, B., Swillen, A., Dumoulin, M., Gewillig, M., Fryns, J.-P.
|
|
<strong>The incidence of a deletion in chromosome 22q11 in sporadic and familial conotruncal heart disease.</strong>
|
|
Europ. J. Pediat. 155: 721 only, 1996.
|
|
|
|
|
|
[PubMed: 8839734]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01957162]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Emanuel, B. S., Budarf, M. L., Sellinger, B., Goldmuntz, E., Driscoll, D. A.
|
|
<strong>Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge syndrome (DGS), velo-cardio-facial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A3, 1992.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Heathcote, K., Braybrook, C., Abushaban, L., Guy, M., Khetyar, M. E., Patton, M. A., Carter, N. D., Scambler, P. J., Syrris, P.
|
|
<strong>Common arterial trunk associated with a homeodomain mutation of NKX2.6.</strong>
|
|
Hum. Molec. Genet. 14: 585-593, 2005.
|
|
|
|
|
|
[PubMed: 15649947]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddi055]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K., Takahashi, T., Matsuoka, R., Yamagishi, H.
|
|
<strong>GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.</strong>
|
|
Proc. Nat. Acad. Sci. 106: 13933-13938, 2009.
|
|
|
|
|
|
[PubMed: 19666519]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0904744106]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Le Marec, B., Odent, S., Almange, C., Journel, H., Roussey, M., Defawe, G.
|
|
<strong>Le truncus arteriosus: une maladie autosomique recessive?</strong>
|
|
J. Genet. Hum. 37: 225-230, 1989.
|
|
|
|
|
|
[PubMed: 2625625]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsuoka, R., Kimura, M., Scambler, P. J., Morrow, B. E., Imamura, S., Minoshima, S., Shimuzu, N., Yamagishi, H., Joh-o, K., Watanabe, S., Oyama, K., Saji, T., Ando, M., Takao, A., Momma, K.
|
|
<strong>Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.</strong>
|
|
Hum. Genet. 103: 70-80, 1998.
|
|
|
|
|
|
[PubMed: 9737780]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050786]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joh-o, K., Ikeda, K., Nishibatake, M., Ando, M., Momma, K.
|
|
<strong>Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.</strong>
|
|
Am. J. Med. Genet. 53: 285-289, 1994.
|
|
|
|
|
|
[PubMed: 7856665]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320530314]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McElhinney, D. B., Geiger, E., Blinder, J., Benson, D. W., Goldmuntz, E.
|
|
<strong>NKX2.5 mutations in patients with congenital heart disease.</strong>
|
|
J. Am. Coll. Cardiol. 42: 1650-1655, 2003.
|
|
|
|
|
|
[PubMed: 14607454]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.jacc.2003.05.004]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Patterson, D. F., Pexieder, T., Schnarr, W. R., Navratil, T., Alaili, R.
|
|
<strong>A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of Keeshond dogs.</strong>
|
|
Am. J. Hum. Genet. 52: 388-397, 1993.
|
|
|
|
|
|
[PubMed: 8430699]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pierpont, M. E. M., Gobel, J. W., Moller, J. H., Edwards, J. E.
|
|
<strong>Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch.</strong>
|
|
Am. J. Cardiol. 61: 423-427, 1988.
|
|
|
|
|
|
[PubMed: 3341225]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9149(88)90298-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rein, A. J. J. T., Dollberg, S., Gale, R.
|
|
<strong>Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations.</strong>
|
|
Am. J. Med. Genet. 36: 353-355, 1990.
|
|
|
|
|
|
[PubMed: 2194395]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320360322]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rein, A. J. J. T., Sheffer, R.
|
|
<strong>Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance. (Letter)</strong>
|
|
Am. J. Med. Genet. 50: 302-303, 1994.
|
|
|
|
|
|
[PubMed: 8042678]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320500317]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saitta, S. C., McGrath, J. M., Mensch, H., Shaikh, T. H., Zackai, E. H., Emanuel, B. S.
|
|
<strong>A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. (Letter)</strong>
|
|
Am. J. Hum. Genet. 65: 562-566, 1999.
|
|
|
|
|
|
[PubMed: 10417299]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302514]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ta-Shma, A., El-lahham, N., Edvardson, S., Stepensky, P., Nir, A., Perles, Z., Gavri, S., Golender, J., Yaakobi-Simhayoff, N., Shaag, A., Rein, A. J. J. T., Elpeleg, O.
|
|
<strong>Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.</strong>
|
|
J. Med. Genet. 51: 268-270, 2014.
|
|
|
|
|
|
[PubMed: 24421281]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2013-102100]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takahashi, K., Kido, S., Hoshino, K., Ogawa, K., Ohashi, H., Fukushima, Y.
|
|
<strong>Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study.</strong>
|
|
Europ. J. Pediat. 154: 878-881, 1995.
|
|
|
|
|
|
[PubMed: 8582397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01957496]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tan, Z.-P., Huang, C., Xu, Z.-B., Yang, J.-F., Yang, Y.-F.
|
|
<strong>Novel ZFPM2/FG2 variants in patients with double outlet right ventricle.</strong>
|
|
Clin. Genet. 82: 466-471, 2012.
|
|
|
|
|
|
[PubMed: 21919901]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01787.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R.
|
|
<strong>Role of TBX1 in human del22q11.2 syndrome.</strong>
|
|
Lancet 362: 1366-1373, 2003.
|
|
|
|
|
|
[PubMed: 14585638]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(03)14632-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 04/18/2018<br>Marla J. F. O'Neill - updated : 05/16/2016<br>Cassandra L. Kniffin - updated : 11/12/2015<br>Cassandra L. Kniffin - updated : 6/4/2014<br>Marla J. F. O'Neill - updated : 2/11/2013<br>Marla J. F. O'Neill - updated : 2/9/2012<br>Marla J. F. O'Neill - updated : 1/17/2012<br>Marla J. F. O'Neill - updated : 3/30/2009<br>George E. Tiller - updated : 2/5/2008<br>Victor A. McKusick - updated : 12/23/2003<br>Victor A. McKusick - updated : 3/22/2002<br>Victor A. McKusick - updated : 2/16/2000<br>Victor A. McKusick - updated : 8/19/1998<br>Iosif W. Lurie - updated : 8/5/1997<br>Moyra Smith - updated : 10/7/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/27/1990
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 12/04/2023<br>alopez : 03/22/2023<br>alopez : 09/21/2022<br>carol : 04/18/2018<br>alopez : 02/16/2018<br>carol : 10/03/2016<br>alopez : 05/16/2016<br>carol : 11/16/2015<br>ckniffin : 11/12/2015<br>carol : 11/11/2015<br>alopez : 7/13/2015<br>carol : 6/5/2014<br>ckniffin : 6/4/2014<br>carol : 2/11/2013<br>carol : 2/9/2012<br>carol : 1/17/2012<br>terry : 6/23/2009<br>wwang : 4/2/2009<br>terry : 3/30/2009<br>wwang : 2/6/2008<br>terry : 2/5/2008<br>alopez : 10/16/2007<br>terry : 11/10/2005<br>carol : 7/20/2004<br>carol : 2/12/2004<br>terry : 12/23/2003<br>carol : 5/29/2003<br>alopez : 3/28/2002<br>terry : 3/22/2002<br>carol : 1/16/2002<br>mgross : 2/16/2000<br>carol : 8/24/1998<br>terry : 8/19/1998<br>jenny : 8/5/1997<br>terry : 11/14/1996<br>terry : 11/12/1996<br>mark : 10/7/1996<br>mark : 3/14/1996<br>terry : 2/29/1996<br>mark : 2/15/1996<br>mark : 2/13/1996<br>carol : 12/21/1994<br>mimadm : 2/19/1994<br>carol : 1/19/1993<br>carol : 12/31/1992<br>carol : 11/19/1992<br>supermim : 3/16/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 13, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|