3867 lines
323 KiB
Text
3867 lines
323 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
|
|
|
|
- *185535 - EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM
|
|
|
|
|
|
- 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=185535"><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">*185535</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="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cloning">Cloning and Expression</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneStructure">Gene Structure</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</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="#history">History</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/185535">Table View</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="mimGenome">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000119888;t=ENST00000263735" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4072" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=185535" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</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="mimDna">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000119888;t=ENST00000263735" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002354" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002354" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=185535" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</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="mimProtein">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://hprd.org/summary?hprd_id=01709&isoform_id=01709_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.proteinatlas.org/search/EPCAM" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/protein/34187,181133,182896,182906,307091,619790,15928632,47057553,49457512,49457558,62822547,119620623,119620624,160266056,218505670,2283864894,2283864896,2283864898,2283864900,2283864902,2283864904" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.uniprot.org/uniprotkb/P16422" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
|
|
|
|
|
|
</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="mimGeneInfo">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Gene Info</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="http://biogps.org/#goto=genereport&id=4072" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000119888;t=ENST00000263735" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=EPCAM" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=EPCAM" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4072" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/EPCAM" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:4072" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/4072" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000263735.9&hgg_start=47369311&hgg_end=47387020&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
|
|
|
|
</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="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed 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 mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11529" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11529" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=185535[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>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=185535[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000119888" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ebi.ac.uk/gwas/search?query=EPCAM" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.gwascentral.org/search?q=EPCAM" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=EPCAM" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.LOVD.nl/EPCAM" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EPCAM&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.pharmgkb.org/gene/PA35493" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
|
|
|
|
</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/gene/HGNC:11529" 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="https://www.mousephenotype.org/data/genes/MGI:106653" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://v1.marrvel.org/search/gene/EPCAM#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/marker/MGI:106653" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/4072/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=4072" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-040426-2209" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
|
|
|
|
|
|
</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="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4072" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://reactome.org/content/query?q=EPCAM&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
|
|
|
|
|
|
</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">
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
185535
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 1; TACSTD1<br />
|
|
ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AUAI; MIC18<br />
|
|
MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1<br />
|
|
GASTROINTESTINAL TUMOR-ASSOCIATED ANTIGEN 2, 35-KD GLYCOPROTEIN<br />
|
|
GA733-2
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EPCAM" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EPCAM</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/2/238?start=-3&limit=10&highlight=238">2p21</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:47369311-47387020&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:47,369,311-47,387,020</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=613217,613244" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/238?start=-3&limit=10&highlight=238">
|
|
2p21
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Diarrhea 5, with tufting enteropathy, congenital
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/613217"> 613217 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Lynch syndrome 8
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/613244"> 613244 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</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/185535" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/185535" 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>
|
|
|
|
<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>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#15" class="mim-tip-reference" title="Spurr, N. K., Durbin, H., Sheer, D., Parkar, M., Bobrow, L., Bodmer, W. F. <strong>Characterization and chromosomal assignment of a human cell surface antigen defined by the monoclonal antibody AUAI.</strong> Int. J. Cancer 38: 631-636, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3770992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3770992</a>] [<a href="https://doi.org/10.1002/ijc.2910380503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3770992">Spurr et al. (1986)</a> characterized a human cell surface antigen that is defined by the monoclonal antibody AUAI. The gene product was expressed only on epithelial cells. The AUAI antibody detected a single 35-kD protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3770992" 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="Szala, S., Froehlich, M., Scollon, M., Kasai, Y., Steplewski, Z., Koprowski, H., Linnenbach, A. J. <strong>Molecular cloning of cDNA for the carcinoma-associated antigen GA733-2.</strong> Proc. Nat. Acad. Sci. 87: 3542-3546, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2333300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2333300</a>] [<a href="https://doi.org/10.1073/pnas.87.9.3542" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2333300">Szala et al. (1990)</a> cloned the cDNA for GA733-2 from an expression colorectal carcinoma cell cDNA library transfected into COS cells and immunoselected with the GA733 monoclonal antibody. The predicted 314-residue protein is processed to the mature antigen of 232 amino acids. The glycosylated protein is predominantly 40 kD, although other species are observed. The same cDNA was identified independently by <a href="#16" class="mim-tip-reference" title="Strnad, J., Hamilton, A. E., Beavers, L. S., Gamboa, G. C., Apelgren, L. D., Taber, L. D., Sportsman, J. R., Bumol, T. F., Sharp, J. D., Gadski, R. A. <strong>Molecular cloning and characterization of a human adenocarcinoma/epithelial cell surface antigen complementary DNA.</strong> Cancer Res. 49: 314-317, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2463074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2463074</a>]" pmid="2463074">Strnad et al. (1989)</a> from the lung adenocarcinoma cell line UCLA-P3 and designated KSA. Likewise, <a href="#9" class="mim-tip-reference" title="Perez, M. S., Walker, L. E. <strong>Isolation and characterization of a cDNA encoding the KS1/4 epithelial carcinoma marker.</strong> J. Immun. 142: 3662-3667, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2469722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2469722</a>]" pmid="2469722">Perez and Walker (1989)</a> obtained the identical cDNA, which they designated KS1/4 antigen. GA733-2 is about 49% similar to GA733-1 (<a href="/entry/137290">137290</a>). Both GA733 antigens have similar hydropathy plots, which include 2 hydrophobic regions. A domain at the amino end is predictive of signal peptides, while the hydrophobic domain at the carboxyl end is most likely a membrane spanning sequence. Northern blot analysis demonstrated a 1.45- to 1.5-kb transcript in cell lines derived from colorectal and pancreatic carcinomas. The mRNA was also detected in normal colon and in lung and colon adenocarcinoma lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2333300+2469722+2463074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> showed that the deduced 314-amino acid EPCAM protein has an N-terminal signal sequence, followed by a EPCAM motif-1, a thyroglobulin (<a href="/entry/188450">188450</a>) type 1A-like repeat, a transmembrane domain near the C terminus, and a short cytoplasmic tail. The large extracellular domain also has 3 possible sites for N-glycosylation. <a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> stated that EPCAM is expressed on the basolateral membrane of intestinal epithelium with a gradient of high expression in crypts to low expression at villi. SDS-PAGE of transfected HEK293T cells detected EPCAM at an apparent molecular mass of about 39 kD. A proportion of EPCAM was secreted into the culture medium. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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="geneStructure" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#7" class="mim-tip-reference" title="Linnenbach, A. J., Seng, B. A., Wu, S., Robbins, S., Scollon, M., Pyrc, J. J., Druck, T., Huebner, K. <strong>Retroposition in a family of carcinoma-associated antigen genes.</strong> Molec. Cell Biol. 13: 1507-1515, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382772</a>] [<a href="https://doi.org/10.1128/mcb.13.3.1507-1515.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8382772">Linnenbach et al. (1993)</a> showed that the gene encoding GA733-2 (M4S1) contains 9 exons. From studies of the GA733-2 genomic sequence and comparison of the promoter regions of both GA733-2 and GA733-1 genes, the authors concluded that GA733-1 was formed by the retrotransposition of the 9-exon GA733-2 gene via an mRNA intermediate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8382772" 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="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#15" class="mim-tip-reference" title="Spurr, N. K., Durbin, H., Sheer, D., Parkar, M., Bobrow, L., Bodmer, W. F. <strong>Characterization and chromosomal assignment of a human cell surface antigen defined by the monoclonal antibody AUAI.</strong> Int. J. Cancer 38: 631-636, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3770992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3770992</a>] [<a href="https://doi.org/10.1002/ijc.2910380503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3770992">Spurr et al. (1986)</a> mapped the MIC18 gene to human chromosome 2 by analysis of human-mouse somatic cell hybrids. By PCR analysis, <a href="#4" class="mim-tip-reference" title="Durbin, H., Rodrigues, N., Bodmer, W. F. <strong>Further characterization, isolation and identification of the epithelial cell-surface antigen defined by monoclonal antibody AUAI.</strong> Int. J. Cancer 45: 562-565, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2307544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2307544</a>] [<a href="https://doi.org/10.1002/ijc.2910450331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2307544">Durbin et al. (1990)</a> confirmed the mapping of MIC18 to chromosome 2. <a href="#2" class="mim-tip-reference" title="Calabrese, G., Crescenzi, C., Morizio, E., Palka, G., Guerra, E., Alberti, S. <strong>Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization.</strong> Cytogenet. Cell Genet. 92: 164-165, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11306819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11306819</a>] [<a href="https://doi.org/10.1159/000056891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11306819">Calabrese et al. (2001)</a> mapped the EPCAM (TACSTD1) gene to 2p21 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3770992+11306819+2307544" 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><strong><em>Congenital Tufting Enteropathy</em></strong></p><p>
|
|
In a kindred of Mexican American descent in which 2 boys who were double second cousins had congenital tufting enteropathy (CTE) (DIAR5; <a href="/entry/613217">613217</a>) mapping to chromosome 2, <a href="#13" class="mim-tip-reference" title="Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M. <strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong> Gastroenterology 135: 429-437, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572020[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/10.1053/j.gastro.2008.05.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18572020">Sivagnanam et al. (2008)</a> identified homozygosity for a splice site mutation in the EPCAM gene in both affected individuals (<a href="#0001">185535.0001</a>). The parents and an unaffected sib were heterozygous for the mutation, which was not detected in 400 controls, including 200 of Mexican American descent. Analysis of EPCAM in 3 additional unrelated patients with CTE revealed homozygosity for another splice site mutation in a native Canadian patient (<a href="#0002">185535.0002</a>) and heterozygosity for a missense mutation in a Russian patient (C66Y; <a href="#0003">185535.0003</a>); no mutation was identified in the remaining patient. Immunohistochemical staining of duodenal biopsy tissue showed absent or markedly decreased epithelial EPCAM staining in all 5 patients compared to age-matched controls and 1 control patient with inflammatory bowel disease (see IBD1, <a href="/entry/266600">266600</a>). <a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> restudied the Russian patient in whom <a href="#13" class="mim-tip-reference" title="Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M. <strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong> Gastroenterology 135: 429-437, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572020[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/10.1053/j.gastro.2008.05.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18572020">Sivagnanam et al. (2008)</a> detected only a heterozygous C66Y substitution in the EPCAM gene, and identified an additional intronic mutation (<a href="#0009">185535.0009</a>), which was predicted to result in premature termination within the EPCAM ectodomain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18572020+23462293" 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 patient with CTE who developed chronic inflammatory arthritis at 4 years of age, <a href="#1" class="mim-tip-reference" title="Al-Mayouf, S. M., Alswaied, N., Alkuraya, F. S., AlMehaidib, A., Faqih, M. <strong>Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation.</strong> J. Pediat. Gastroent. Nutr. 49: 642-644, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19820410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19820410</a>] [<a href="https://doi.org/10.1097/MPG.0b013e3181acaeae" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19820410">Al-Mayouf et al. (2009)</a> identified homozygosity for a 1-bp insertion in the EPCAM gene (<a href="#0004">185535.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19820410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female infant with congenital tufting enteropathy, <a href="#14" class="mim-tip-reference" title="Sivagnanam, M., Schaible, T., Szigeti, R., Byrd, R. H., Finegold, M. J., Ranganathan, S., Gopalakrishna, G. S., Tatevian, N., Kellermayer, R. <strong>Further evidence for EpCAM as the gene for congenital tufting enteropathy. (Letter)</strong> Am. J. Med. Genet. 152A: 222-224, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20034091[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034091">Sivagnanam et al. (2010)</a> identified homozygosity for a nonsense mutation in the EPCAM gene (R138X; <a href="#0007">185535.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> expressed wildtype EPCAM and 7 mutant constructs mimicking mutations that cause congenital tufting enteropathy in HEK293T cells. SDS-PAGE and immunohistochemical analysis revealed that most mutant proteins were expressed at lower levels than wildtype EPCAM and that none of the mutant proteins localized to the plasma membrane. Most truncation mutations resulted in loss of the C-terminal transmembrane domain, and several mutant proteins were either secreted or degraded in the ER. Mutations that resulted in a frameshift were also degraded in the ER. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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 study of 57 patients from 46 families who were clinically diagnosed with congenital tufting enteropathy, <a href="#11" class="mim-tip-reference" title="Salomon, J., Goulet, O., Canioni, D., Brousse, N., Lemale, J., Tounian, P., Coulomb, A., Marinier, E., Hugot, J.-P., Ruemmele, F., Dufier, J.-L., Roche, O., and 14 others. <strong>Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.</strong> Hum. Genet. 133: 299-310, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24142340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24142340</a>] [<a href="https://doi.org/10.1007/s00439-013-1380-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24142340">Salomon et al. (2014)</a> identified EPCAM mutations in 41 patients (73%) and SPINT2 (<a href="/entry/605124">605124</a>) mutations in 12 patients (21%) (see DIAR3, <a href="/entry/270420">270420</a>). All patients with SPINT2 mutations exhibited syndromic features, including superficial punctate keratitis and choanal atresia, as well as other atresias, dermatologic anomalies, and bone malformations, whereas the patients with EPCAM mutations had isolated congenital diarrhea. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24142340" 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>Lynch Syndrome 8</em></strong></p><p>
|
|
<a href="#6" class="mim-tip-reference" title="Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., Tsui, W. Y., Kong, C. K., Brunner, H. G., Geurts van Kessel, A., Yuen, S. T., van Krieken, J. H. J. M., Leung, S. Y., Hoogerbrugge, N. <strong>Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1.</strong> Nature Genet. 41: 112-117, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098912</a>] [<a href="https://doi.org/10.1038/ng.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19098912">Ligtenberg et al. (2009)</a> described patients from Dutch and Chinese families with MSH2 (<a href="/entry/609309">609309</a>)-deficient colorectal tumors (LYNCH8; <a href="/entry/613244">613244</a>) carrying heterozygous germline deletions of the last exons of TACSTD1 (<a href="#0005">185535.0005</a>, <a href="#0006">185535.0006</a>), the gene directly upstream of MSH2. The deletions caused the transcription of TACSTD1 to extend into MSH2. The MSH2 promoter in cis with the deletion was methylated in EPCAM-positive but not in EPCAM-negative normal tissues, thus revealing a correlation between activity of the mutated TACSTD1 allele and epigenetic inactivation of the corresponding MSH2 allele. Gene silencing by transcriptional read-through of a neighboring gene in either sense or antisense direction could represent a general mutational mechanism. Depending on the expression pattern of the neighboring gene that lacks its normal polyadenylation signal, this may cause either generalized or mosaic patterns of epigenetic inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19098912" 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="Kuiper, R. P., Vissers, L. E. L. M., Venkatachalam, R., Bodmer, D., Hoenselaar, E., Goossens, M., Haufe, A., Kamping, E., Niessen, R. C., Hogervorst, F. B. L., Gille, J. J. P., Redeker, B., and 23 others. <strong>Recurrence and variability of germline EPCAM deletions in Lynch syndrome.</strong> Hum. Mutat. 32: 407-414, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21309036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21309036</a>] [<a href="https://doi.org/10.1002/humu.21446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21309036">Kuiper et al. (2011)</a> analyzed 45 Lynch syndrome families with EPCAM deletions, including 27 families ascertained through targeted genomic screens in cohorts of unexplained Lynch-like families and 18 previously studied families with known EPCAM deletions. Overall, 19 different deletions were found, all of which included the last 2 exons and the transcription termination signal of EPCAM. All deletions appeared to originate from Alu-repeat mediated recombination events; in 17 cases, regions of microhomology around the breakpoints were found, suggesting nonallelic homologous recombination as the most likely mechanism. Within the Netherlands and Germany, EPCAM deletions appeared to represent at least 2.8% and 1.1% of the confirmed Lynch syndrome families, respectively. <a href="#5" class="mim-tip-reference" title="Kuiper, R. P., Vissers, L. E. L. M., Venkatachalam, R., Bodmer, D., Hoenselaar, E., Goossens, M., Haufe, A., Kamping, E., Niessen, R. C., Hogervorst, F. B. L., Gille, J. J. P., Redeker, B., and 23 others. <strong>Recurrence and variability of germline EPCAM deletions in Lynch syndrome.</strong> Hum. Mutat. 32: 407-414, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21309036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21309036</a>] [<a href="https://doi.org/10.1002/humu.21446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21309036">Kuiper et al. (2011)</a> concluded that 3-prime EPCAM deletions are a recurrent cause of Lynch syndrome and should be sought in routine Lynch syndrome diagnostic testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21309036" 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="history" class="mim-anchor"></a>
|
|
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#7" class="mim-tip-reference" title="Linnenbach, A. J., Seng, B. A., Wu, S., Robbins, S., Scollon, M., Pyrc, J. J., Druck, T., Huebner, K. <strong>Retroposition in a family of carcinoma-associated antigen genes.</strong> Molec. Cell Biol. 13: 1507-1515, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382772</a>] [<a href="https://doi.org/10.1128/mcb.13.3.1507-1515.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8382772">Linnenbach et al. (1993)</a> localized the GA733-2 (EPCAM) gene to 4q by analysis of human/rodent somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8382772" 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="#8" class="mim-tip-reference" title="Meyaard, L., van der Vuurst de Vries, A.-R., de Ruiter, T., Lanier, L. L., Phillips, J. H., Clevers, H. <strong>The epithelial cellular adhesion molecule (Ep-CAM) is a ligand for the leukocyte-associated immunoglobulin-like receptor (LAIR).</strong> J. Exp. Med. 194: 107-112, 2001. Note: Retraction: J. Exp. Med. 198: 1129 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435477</a>] [<a href="https://doi.org/10.1084/jem.194.1.107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435477">Meyaard et al. (2001)</a> presented evidence suggesting that EPCAM is a ligand for LAIR1 (<a href="/entry/602992">602992</a>) and LAIR2 (<a href="/entry/602993">602993</a>). However, the authors later retracted their paper after further studies showed that EPCAM is not a ligand for LAIR1 and LAIR2 and that their prior results were an artifact resulting from contamination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435477" 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="allelicVariants" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
|
|
</span>
|
|
<strong>9 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/185535" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=185535[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
|
|
|
|
</div>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0001" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, IVS4DS, G-A, +1
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs606231203 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231203;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs606231203?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013609 OR RCV003162250 OR RCV004018623 OR RCV004794337" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013609, RCV003162250, RCV004018623, RCV004794337" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013609...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a kindred of Mexican American descent in which 2 boys who were double second cousins had congenital tufting enteropathy (DIAR5; <a href="/entry/613217">613217</a>), <a href="#13" class="mim-tip-reference" title="Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M. <strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong> Gastroenterology 135: 429-437, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572020[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/10.1053/j.gastro.2008.05.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18572020">Sivagnanam et al. (2008)</a> identified homozygosity for a G-A transition at the donor splice site (c.491+1G-A) of exon 4 of the EPCAM gene in the affected individuals. The parents and an unaffected sib were heterozygous for the mutation, which was not detected in 400 controls, including 200 of Mexican American descent. RT-PCR analysis of patient duodenal tissue demonstrated a novel alternative splice form with deletion of exon 4. Western blot showed significantly decreased expression of EPCAM in intestinal tissue from 1 of the CTE patients, compared to 2 controls and 1 control patient with inflammatory bowel disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18572020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> studied the c.491+1G-A mutation, which was predicted to result in a deletion (Trp143_Thr164del). Functional analysis in HEK293T cells demonstrated that the mutant is retained in the endoplasmic reticulum (ER), causing loss of the cell surface localization observed with wildtype EPCAM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0002" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, IVS3AS, G-A, -1
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs373597944 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs373597944;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs373597944?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs373597944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs373597944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013610 OR RCV000588760" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013610, RCV000588760" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013610...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old native Canadian patient with congenital tufting enteropathy (DIAR5; <a href="/entry/613217">613217</a>), <a href="#13" class="mim-tip-reference" title="Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M. <strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong> Gastroenterology 135: 429-437, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572020[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/10.1053/j.gastro.2008.05.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18572020">Sivagnanam et al. (2008)</a> identified homozygosity for a G-A transition at the acceptor splice site (c.427-1G-A) of exon 4 of the EPCAM gene. The mutation was not found in more than 170 North American control DNA samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18572020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> designated this EPCAM intron 3 mutation c.426-1G-A and predicted that it would result in a deletion (Trp143_Thr164del). Functional analysis in HEK293T cells demonstrated that the mutant is retained in the ER, causing loss of the cell surface localization observed with wildtype EPCAM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0003" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, CYS66TYR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267606785 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267606785;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267606785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267606785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013611" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013611" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013611</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-year-old Russian patient with congenital tufting enteropathy (DIAR5; <a href="/entry/613217">613217</a>), <a href="#13" class="mim-tip-reference" title="Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M. <strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong> Gastroenterology 135: 429-437, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572020[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/10.1053/j.gastro.2008.05.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18572020">Sivagnanam et al. (2008)</a> identified heterozygosity for a c.200G-A transition in exon 3 of the EPCAM gene, predicted to cause a cys66-to-tyr (C66Y) substitution. The mutation was not found in more than 170 North American control DNA samples. Noting that most families reported with CTE are consanguineous or follow a pattern consistent with autosomal recessive inheritance, <a href="#13" class="mim-tip-reference" title="Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M. <strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong> Gastroenterology 135: 429-437, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572020[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/10.1053/j.gastro.2008.05.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18572020">Sivagnanam et al. (2008)</a> stated that although it was possible that CTE was transmitted in an autosomal dominant fashion in this patient, compound heterozygosity with a second mutation in an unsequenced noncoding region of the EPCAM gene was also possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18572020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> restudied the Russian patient with CTE/DIAR5 in whom <a href="#13" class="mim-tip-reference" title="Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M. <strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong> Gastroenterology 135: 429-437, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572020[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/10.1053/j.gastro.2008.05.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18572020">Sivagnanam et al. (2008)</a> originally detected only a heterozygous C66Y substitution, and identified an additional intronic mutation in the EPCAM gene (c.556-14A-G; <a href="#0009">185535.0009</a>), which was predicted to result in a premature termination codon (Tyr186PhefsTer6). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18572020+23462293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> designated the transition resulting in the C66Y substitution c.197G-A. By nonreducing PAGE analysis of transfected HEK293T cells, <a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> found that EPCAM with the C66Y mutation formed a dimer. They hypothesized that, since C66 is normally engaged in a disulfide bond with C99, free C99 in mutant EPCAM may engage in intermolecular dimerization. The C66Y mutant was retained and degraded in the endoplasmic reticulum, causing loss of the cell surface localization observed with wildtype EPCAM. In immunostained transfected HEK293T cells, <a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> also observed that the c.556-14A-G mutant was minimally detectable and was not present at the cell surface. Western blot analysis indicated that the truncated mutant is expressed, leading the authors to suggest that it is likely degraded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0004" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, 1-BP INS, 498C
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231204 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231204;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013612 OR RCV000521713 OR RCV004751210" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013612, RCV000521713, RCV004751210" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013612...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient born of first-cousin parents, who had congenital tufting enteropathy (DIAR5; <a href="/entry/613217">613217</a>) and developed chronic inflammatory arthritis at 4 years of age, <a href="#1" class="mim-tip-reference" title="Al-Mayouf, S. M., Alswaied, N., Alkuraya, F. S., AlMehaidib, A., Faqih, M. <strong>Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation.</strong> J. Pediat. Gastroent. Nutr. 49: 642-644, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19820410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19820410</a>] [<a href="https://doi.org/10.1097/MPG.0b013e3181acaeae" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19820410">Al-Mayouf et al. (2009)</a> identified homozygosity for a 1-bp insertion (c.498insC) in exon 5 of the EPCAM gene, causing a frameshift resulting in a premature termination codon (Gln167ProfsTer21). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19820410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected individuals from 4 unrelated consanguineous Kuwaiti families and 1 consanguineous Qatari family, who had severe neonatal diarrhea and typical tufting on intestinal biopsies, <a href="#10" class="mim-tip-reference" title="Salomon, J., Espinosa-Parrilla, Y., Goulet, O., Al-Qabandi, W., Guigue, P., Canioni, D., Bruneau, J., Alzahrani, F., Almuhsen, S., Cerf-Bensussan, N., Jeanpierre, M., Brousse, N., Lyonnet, S., Munnich, A., Smahi, A. <strong>A founder effect at the EPCAM locus in congenital tufting enteropathy in the Arabic Gulf.</strong> Europ. J. Med. Genet. 54: 319-322, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21315192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21315192</a>] [<a href="https://doi.org/10.1016/j.ejmg.2011.01.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21315192">Salomon et al. (2011)</a> identified homozygosity for the c.498insC mutation in the EPCAM gene. The mutation was not found in 119 ethnically matched controls. In 2 additional patients from unrelated Kuwaiti families, the c.498insC mutation was found in compound heterozygosity with a splice site mutation (<a href="#0008">185535.0008</a>). Both mutations were predicted to truncate the C-terminal domain necessary for anchorage of EPCAM at the intercellular membrane, and immunohistochemistry of intestinal biopsies failed to detect EPCAM protein at this membrane. Haplotype analysis using microsatellite markers revealed that carriers of the c.498insC mutation shared a minimal common haplotype of 473 kb, consistent with a founder effect that occurred approximately 5,000 to 6,000 years earlier (190 generations removed) in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21315192" 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 immunostained transfected HEK293T cells, <a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> observed that the 498insC mutant was minimally detectable and was not present at the cell surface, in contrast to wildtype EPCAM. Western blot analysis indicated that the truncated mutant is expressed, leading the authors to suggest that it is likely degraded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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="#11" class="mim-tip-reference" title="Salomon, J., Goulet, O., Canioni, D., Brousse, N., Lemale, J., Tounian, P., Coulomb, A., Marinier, E., Hugot, J.-P., Ruemmele, F., Dufier, J.-L., Roche, O., and 14 others. <strong>Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.</strong> Hum. Genet. 133: 299-310, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24142340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24142340</a>] [<a href="https://doi.org/10.1007/s00439-013-1380-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24142340">Salomon et al. (2014)</a> noted that the c.498insC mutation is sometimes designated c.499dup. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24142340" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0005" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 LYNCH SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, 5-KB DEL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013613" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013613" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013613</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 Dutch families with colorectal cancer (LYNCH8; <a href="/entry/613244">613244</a>) showing high microsatellite instability (MSI-high) and loss of MSH2 (<a href="/entry/609309">609309</a>) protein, but in which no mutations in MSH2 were found, <a href="#6" class="mim-tip-reference" title="Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., Tsui, W. Y., Kong, C. K., Brunner, H. G., Geurts van Kessel, A., Yuen, S. T., van Krieken, J. H. J. M., Leung, S. Y., Hoogerbrugge, N. <strong>Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1.</strong> Nature Genet. 41: 112-117, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098912</a>] [<a href="https://doi.org/10.1038/ng.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19098912">Ligtenberg et al. (2009)</a> detected a heterozygous 5-kb deletion encompassing the 2 most 3-prime exons of the TACSTD1 gene while leaving the promoter region of the MSH2 gene intact. Sequence analysis defined the deletion breakpoints with an intervening deletion of 4,909 bp, denoted 859-1462_*1999del, of the TACSTD1 cDNA. Haplotype analysis suggested that this mutation originated from a common founder. All 6 MSI-high tumors from these families showed methylation of the MSH2 promoter by methylation-specific PCR and subsequent bisulfite sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19098912" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0006" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 LYNCH SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, 22.8-KB DEL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000013614" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000013614" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000013614</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#3" class="mim-tip-reference" title="Chan, T. L., Yuen, S. T., Kong, C. K., Chan, Y. W., Chan, A. S. Y., Ng, W. F., Tsui, W. Y., Lo, M. W. S., Tam, W. Y., Li, V. S. W., Leung, S. Y. <strong>Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.</strong> Nature Genet. 38: 1178-1183, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951683</a>] [<a href="https://doi.org/10.1038/ng1866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951683">Chan et al. (2006)</a> reported a family with inheritance, in 3 successive generations, of germline allele-specific and mosaic hypermethylation of the MSH2 gene (<a href="/entry/609309">609309</a>), without evidence of DNA mismatch repair gene mutation. Three sibs carrying the germline methylation developed early-onset colorectal or endometrial cancers (LYNCH8; <a href="/entry/613244">613244</a>), all with microsatellite instability and MSH2 protein loss. The authors demonstrated different methylation levels in different somatic tissues, with the highest level recorded in rectal mucosa and colon cancer tissue, and the lowest in blood leukocytes. Although the underlying mechanism remained unclear, it was considered possible that the methylation is controlled by a genetic event associated with the disease haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16951683" 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="Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., Tsui, W. Y., Kong, C. K., Brunner, H. G., Geurts van Kessel, A., Yuen, S. T., van Krieken, J. H. J. M., Leung, S. Y., Hoogerbrugge, N. <strong>Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1.</strong> Nature Genet. 41: 112-117, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098912</a>] [<a href="https://doi.org/10.1038/ng.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19098912">Ligtenberg et al. (2009)</a> analyzed the family reported by <a href="#3" class="mim-tip-reference" title="Chan, T. L., Yuen, S. T., Kong, C. K., Chan, Y. W., Chan, A. S. Y., Ng, W. F., Tsui, W. Y., Lo, M. W. S., Tam, W. Y., Li, V. S. W., Leung, S. Y. <strong>Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.</strong> Nature Genet. 38: 1178-1183, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951683</a>] [<a href="https://doi.org/10.1038/ng1866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16951683">Chan et al. (2006)</a> with heritable MSH2 promoter methylation and identified a heterozygous deletion of 22.8 kb (TACSTD1 cDNA, 555+894_*14194del) that segregated with the disease. The deletion extended from intron 5 of the TACSTD1 gene to approximately 2.4 kb upstream of MSH2, encompassing the 3-prime end of TACSTD1 and leaving the MSH2 promoter intact. <a href="#6" class="mim-tip-reference" title="Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., Tsui, W. Y., Kong, C. K., Brunner, H. G., Geurts van Kessel, A., Yuen, S. T., van Krieken, J. H. J. M., Leung, S. Y., Hoogerbrugge, N. <strong>Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1.</strong> Nature Genet. 41: 112-117, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098912</a>] [<a href="https://doi.org/10.1038/ng.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19098912">Ligtenberg et al. (2009)</a> identified the same mutation in another Chinese family; there was no evidence for a founder mutation. RT- and methylation-specific PCR of tissue samples from affected individuals showed that methylation of MSH2 was limited to TACSTD1-expressing cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19098912+16951683" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0007" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, ARG138TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514661 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514661;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397514661?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033250 OR RCV003162287" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033250, RCV003162287" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033250...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female infant with congenital tufting enteropathy (DIAR5; <a href="/entry/613217">613217</a>), <a href="#14" class="mim-tip-reference" title="Sivagnanam, M., Schaible, T., Szigeti, R., Byrd, R. H., Finegold, M. J., Ranganathan, S., Gopalakrishna, G. S., Tatevian, N., Kellermayer, R. <strong>Further evidence for EpCAM as the gene for congenital tufting enteropathy. (Letter)</strong> Am. J. Med. Genet. 152A: 222-224, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20034091[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.33186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20034091">Sivagnanam et al. (2010)</a> identified homozygosity for a 412C-T transition in exon 3 of the EPCAM gene, resulting in an arg138-to-ter (R138X) substitution. The unaffected first-cousin parents of Pakistani descent were heterozygous for the mutation. Fluorescent immunohistochemical staining of duodenal biopsy tissue from the patient demonstrated markedly decreased EPCAM staining throughout the tissue sample compared to control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20034091" 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 immunostained transfected HEK293T cells, <a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> observed that the R138X mutant was minimally detectable and was not present at the cell surface, in contrast to wildtype EPCAM. Western blot analysis indicated that the truncated mutant is expressed and secreted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0008" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, IVS4AS, A-G, -2
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231281 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231281;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144937 OR RCV000519022" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144937, RCV000519022" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144937...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient with severe neonatal diarrhea and enterocyte tufting (DIAR5; <a href="/entry/613217">613217</a>), from a consanguineous Kuwaiti family, <a href="#10" class="mim-tip-reference" title="Salomon, J., Espinosa-Parrilla, Y., Goulet, O., Al-Qabandi, W., Guigue, P., Canioni, D., Bruneau, J., Alzahrani, F., Almuhsen, S., Cerf-Bensussan, N., Jeanpierre, M., Brousse, N., Lyonnet, S., Munnich, A., Smahi, A. <strong>A founder effect at the EPCAM locus in congenital tufting enteropathy in the Arabic Gulf.</strong> Europ. J. Med. Genet. 54: 319-322, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21315192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21315192</a>] [<a href="https://doi.org/10.1016/j.ejmg.2011.01.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21315192">Salomon et al. (2011)</a> identified homozygosity for a -2A-G transition in intron 4 of the EPCAM gene (IVS4-2A-G), which was not found in 119 ethnically matched controls. Sequencing of RT-PCR products demonstrated that the splice site mutation caused abnormal skipping of exon 5. In 2 additional patients from unrelated Kuwaiti families, the IVS4-2A-G mutation was found in compound heterozygosity with a recurrent c.498insC mutation (<a href="#0004">185535.0004</a>). Both mutations were predicted to truncate the C-terminal domain necessary for anchorage of EPCAM at the intercellular membrane, and immunohistochemistry of intestinal biopsies failed to detect EPCAM protein at this membrane. Haplotype analysis using microsatellite markers showed that a common haplotype of more than 14.1 Mb segregated with the IVS4-2A-G mutation, suggesting a founder effect that occurred less than 40 generations earlier in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21315192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a> studied the IVS4 EPCAM mutant, which they designated c.492-2A-G and which was predicted to result in premature termination (Ala165MetfsTer24). In immunostained transfected HEK293T cells, the c.492-2A-G mutant was minimally detectable and was not present at the cell surface, in contrast to wildtype EPCAM. Western blot analysis indicated that the truncated mutant is expressed, leading the authors to suggest that it is likely degraded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0009" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
EPCAM, IVS5AS, A-G, -14
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs376155665 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs376155665;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs376155665?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs376155665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs376155665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144936 OR RCV000763487 OR RCV003654209 OR RCV004751287" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144936, RCV000763487, RCV003654209, RCV004751287" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144936...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the EPCAM gene (c.556-14A-G) that was found in compound heterozygous state in a patient with congenital tufting enteropathy (DIAR5; <a href="/entry/613217">613217</a>) by <a href="#12" class="mim-tip-reference" title="Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G. <strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong> Hum. Molec. Genet. 22: 2566-2571, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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/10.1093/hmg/ddt105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23462293">Schnell et al. (2013)</a>, see <a href="#0003">185535.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23462293" 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>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</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="Al-Mayouf2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Al-Mayouf, S. M., Alswaied, N., Alkuraya, F. S., AlMehaidib, A., Faqih, M.
|
|
<strong>Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation.</strong>
|
|
J. Pediat. Gastroent. Nutr. 49: 642-644, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19820410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19820410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19820410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/MPG.0b013e3181acaeae" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Calabrese2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Calabrese, G., Crescenzi, C., Morizio, E., Palka, G., Guerra, E., Alberti, S.
|
|
<strong>Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization.</strong>
|
|
Cytogenet. Cell Genet. 92: 164-165, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11306819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11306819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11306819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000056891" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Chan2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chan, T. L., Yuen, S. T., Kong, C. K., Chan, Y. W., Chan, A. S. Y., Ng, W. F., Tsui, W. Y., Lo, M. W. S., Tam, W. Y., Li, V. S. W., Leung, S. Y.
|
|
<strong>Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.</strong>
|
|
Nature Genet. 38: 1178-1183, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16951683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16951683</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16951683" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1866" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Durbin1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Durbin, H., Rodrigues, N., Bodmer, W. F.
|
|
<strong>Further characterization, isolation and identification of the epithelial cell-surface antigen defined by monoclonal antibody AUAI.</strong>
|
|
Int. J. Cancer 45: 562-565, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2307544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2307544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2307544" 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/ijc.2910450331" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Kuiper2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kuiper, R. P., Vissers, L. E. L. M., Venkatachalam, R., Bodmer, D., Hoenselaar, E., Goossens, M., Haufe, A., Kamping, E., Niessen, R. C., Hogervorst, F. B. L., Gille, J. J. P., Redeker, B., and 23 others.
|
|
<strong>Recurrence and variability of germline EPCAM deletions in Lynch syndrome.</strong>
|
|
Hum. Mutat. 32: 407-414, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21309036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21309036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21309036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.21446" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Ligtenberg2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., Tsui, W. Y., Kong, C. K., Brunner, H. G., Geurts van Kessel, A., Yuen, S. T., van Krieken, J. H. J. M., Leung, S. Y., Hoogerbrugge, N.
|
|
<strong>Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1.</strong>
|
|
Nature Genet. 41: 112-117, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19098912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng.283" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Linnenbach1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Linnenbach, A. J., Seng, B. A., Wu, S., Robbins, S., Scollon, M., Pyrc, J. J., Druck, T., Huebner, K.
|
|
<strong>Retroposition in a family of carcinoma-associated antigen genes.</strong>
|
|
Molec. Cell Biol. 13: 1507-1515, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8382772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8382772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8382772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1128/mcb.13.3.1507-1515.1993" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Meyaard2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meyaard, L., van der Vuurst de Vries, A.-R., de Ruiter, T., Lanier, L. L., Phillips, J. H., Clevers, H.
|
|
<strong>The epithelial cellular adhesion molecule (Ep-CAM) is a ligand for the leukocyte-associated immunoglobulin-like receptor (LAIR).</strong>
|
|
J. Exp. Med. 194: 107-112, 2001. Note: Retraction: J. Exp. Med. 198: 1129 only, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1084/jem.194.1.107" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Perez1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Perez, M. S., Walker, L. E.
|
|
<strong>Isolation and characterization of a cDNA encoding the KS1/4 epithelial carcinoma marker.</strong>
|
|
J. Immun. 142: 3662-3667, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2469722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2469722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2469722" 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="10" class="mim-anchor"></a>
|
|
<a id="Salomon2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Salomon, J., Espinosa-Parrilla, Y., Goulet, O., Al-Qabandi, W., Guigue, P., Canioni, D., Bruneau, J., Alzahrani, F., Almuhsen, S., Cerf-Bensussan, N., Jeanpierre, M., Brousse, N., Lyonnet, S., Munnich, A., Smahi, A.
|
|
<strong>A founder effect at the EPCAM locus in congenital tufting enteropathy in the Arabic Gulf.</strong>
|
|
Europ. J. Med. Genet. 54: 319-322, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21315192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21315192</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21315192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ejmg.2011.01.009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Salomon2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Salomon, J., Goulet, O., Canioni, D., Brousse, N., Lemale, J., Tounian, P., Coulomb, A., Marinier, E., Hugot, J.-P., Ruemmele, F., Dufier, J.-L., Roche, O., and 14 others.
|
|
<strong>Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.</strong>
|
|
Hum. Genet. 133: 299-310, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24142340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24142340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24142340" 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/s00439-013-1380-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Schnell2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G.
|
|
<strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong>
|
|
Hum. Molec. Genet. 22: 2566-2571, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23462293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23462293</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23462293[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=23462293" 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/ddt105" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Sivagnanam2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M.
|
|
<strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong>
|
|
Gastroenterology 135: 429-437, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572020</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572020[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=18572020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1053/j.gastro.2008.05.036" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Sivagnanam2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sivagnanam, M., Schaible, T., Szigeti, R., Byrd, R. H., Finegold, M. J., Ranganathan, S., Gopalakrishna, G. S., Tatevian, N., Kellermayer, R.
|
|
<strong>Further evidence for EpCAM as the gene for congenital tufting enteropathy. (Letter)</strong>
|
|
Am. J. Med. Genet. 152A: 222-224, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20034091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20034091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20034091[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=20034091" 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.a.33186" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Spurr1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Spurr, N. K., Durbin, H., Sheer, D., Parkar, M., Bobrow, L., Bodmer, W. F.
|
|
<strong>Characterization and chromosomal assignment of a human cell surface antigen defined by the monoclonal antibody AUAI.</strong>
|
|
Int. J. Cancer 38: 631-636, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3770992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3770992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3770992" 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/ijc.2910380503" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Strnad1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Strnad, J., Hamilton, A. E., Beavers, L. S., Gamboa, G. C., Apelgren, L. D., Taber, L. D., Sportsman, J. R., Bumol, T. F., Sharp, J. D., Gadski, R. A.
|
|
<strong>Molecular cloning and characterization of a human adenocarcinoma/epithelial cell surface antigen complementary DNA.</strong>
|
|
Cancer Res. 49: 314-317, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2463074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2463074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2463074" 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="17" class="mim-anchor"></a>
|
|
<a id="Szala1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Szala, S., Froehlich, M., Scollon, M., Kasai, Y., Steplewski, Z., Koprowski, H., Linnenbach, A. J.
|
|
<strong>Molecular cloning of cDNA for the carcinoma-associated antigen GA733-2.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 3542-3546, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2333300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2333300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2333300" 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.87.9.3542" 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">
|
|
Matthew B. Gross - updated : 11/12/2014
|
|
</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 : 11/11/2014<br>Patricia A. Hartz - updated : 9/5/2013<br>Marla J. F. O'Neill - updated : 3/13/2013<br>Marla J. F. O'Neill - updated : 9/14/2011<br>Ada Hamosh - updated : 2/4/2010<br>Marla J. F. O'Neill - updated : 1/12/2010<br>Joanna S. Amberger - updated : 6/10/2002<br>Paul J. Converse - updated : 10/4/2001<br>Mark H. Paalman - updated : 4/25/1996
|
|
</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 : 7/3/1991
|
|
</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">
|
|
carol : 11/15/2022
|
|
</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">
|
|
carol : 06/27/2019<br>carol : 12/18/2017<br>joanna : 08/04/2016<br>mcolton : 08/04/2015<br>mgross : 11/12/2014<br>carol : 11/11/2014<br>mcolton : 11/11/2014<br>carol : 9/22/2014<br>mgross : 9/5/2013<br>carol : 3/13/2013<br>terry : 3/13/2013<br>carol : 9/14/2011<br>terry : 9/14/2011<br>alopez : 2/4/2010<br>alopez : 2/4/2010<br>carol : 1/13/2010<br>carol : 1/12/2010<br>mgross : 3/23/2005<br>alopez : 6/19/2002<br>joanna : 6/12/2002<br>alopez : 3/6/2000<br>supermim : 3/16/1992<br>carol : 7/3/1991
|
|
</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> 185535
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 1; TACSTD1<br />
|
|
ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AUAI; MIC18<br />
|
|
MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1<br />
|
|
GASTROINTESTINAL TUMOR-ASSOCIATED ANTIGEN 2, 35-KD GLYCOPROTEIN<br />
|
|
GA733-2
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: EPCAM</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 2p21
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 2:47,369,311-47,387,020 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype 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>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
2p21
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Diarrhea 5, with tufting enteropathy, congenital
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613217
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Lynch syndrome 8
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
613244
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Spurr et al. (1986) characterized a human cell surface antigen that is defined by the monoclonal antibody AUAI. The gene product was expressed only on epithelial cells. The AUAI antibody detected a single 35-kD protein. </p><p>Szala et al. (1990) cloned the cDNA for GA733-2 from an expression colorectal carcinoma cell cDNA library transfected into COS cells and immunoselected with the GA733 monoclonal antibody. The predicted 314-residue protein is processed to the mature antigen of 232 amino acids. The glycosylated protein is predominantly 40 kD, although other species are observed. The same cDNA was identified independently by Strnad et al. (1989) from the lung adenocarcinoma cell line UCLA-P3 and designated KSA. Likewise, Perez and Walker (1989) obtained the identical cDNA, which they designated KS1/4 antigen. GA733-2 is about 49% similar to GA733-1 (137290). Both GA733 antigens have similar hydropathy plots, which include 2 hydrophobic regions. A domain at the amino end is predictive of signal peptides, while the hydrophobic domain at the carboxyl end is most likely a membrane spanning sequence. Northern blot analysis demonstrated a 1.45- to 1.5-kb transcript in cell lines derived from colorectal and pancreatic carcinomas. The mRNA was also detected in normal colon and in lung and colon adenocarcinoma lines. </p><p>Schnell et al. (2013) showed that the deduced 314-amino acid EPCAM protein has an N-terminal signal sequence, followed by a EPCAM motif-1, a thyroglobulin (188450) type 1A-like repeat, a transmembrane domain near the C terminus, and a short cytoplasmic tail. The large extracellular domain also has 3 possible sites for N-glycosylation. Schnell et al. (2013) stated that EPCAM is expressed on the basolateral membrane of intestinal epithelium with a gradient of high expression in crypts to low expression at villi. SDS-PAGE of transfected HEK293T cells detected EPCAM at an apparent molecular mass of about 39 kD. A proportion of EPCAM was secreted into the culture medium. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Linnenbach et al. (1993) showed that the gene encoding GA733-2 (M4S1) contains 9 exons. From studies of the GA733-2 genomic sequence and comparison of the promoter regions of both GA733-2 and GA733-1 genes, the authors concluded that GA733-1 was formed by the retrotransposition of the 9-exon GA733-2 gene via an mRNA intermediate. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Spurr et al. (1986) mapped the MIC18 gene to human chromosome 2 by analysis of human-mouse somatic cell hybrids. By PCR analysis, Durbin et al. (1990) confirmed the mapping of MIC18 to chromosome 2. Calabrese et al. (2001) mapped the EPCAM (TACSTD1) gene to 2p21 by fluorescence in situ hybridization. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Congenital Tufting Enteropathy</em></strong></p><p>
|
|
In a kindred of Mexican American descent in which 2 boys who were double second cousins had congenital tufting enteropathy (CTE) (DIAR5; 613217) mapping to chromosome 2, Sivagnanam et al. (2008) identified homozygosity for a splice site mutation in the EPCAM gene in both affected individuals (185535.0001). The parents and an unaffected sib were heterozygous for the mutation, which was not detected in 400 controls, including 200 of Mexican American descent. Analysis of EPCAM in 3 additional unrelated patients with CTE revealed homozygosity for another splice site mutation in a native Canadian patient (185535.0002) and heterozygosity for a missense mutation in a Russian patient (C66Y; 185535.0003); no mutation was identified in the remaining patient. Immunohistochemical staining of duodenal biopsy tissue showed absent or markedly decreased epithelial EPCAM staining in all 5 patients compared to age-matched controls and 1 control patient with inflammatory bowel disease (see IBD1, 266600). Schnell et al. (2013) restudied the Russian patient in whom Sivagnanam et al. (2008) detected only a heterozygous C66Y substitution in the EPCAM gene, and identified an additional intronic mutation (185535.0009), which was predicted to result in premature termination within the EPCAM ectodomain. </p><p>In a patient with CTE who developed chronic inflammatory arthritis at 4 years of age, Al-Mayouf et al. (2009) identified homozygosity for a 1-bp insertion in the EPCAM gene (185535.0004). </p><p>In a female infant with congenital tufting enteropathy, Sivagnanam et al. (2010) identified homozygosity for a nonsense mutation in the EPCAM gene (R138X; 185535.0007). </p><p>Schnell et al. (2013) expressed wildtype EPCAM and 7 mutant constructs mimicking mutations that cause congenital tufting enteropathy in HEK293T cells. SDS-PAGE and immunohistochemical analysis revealed that most mutant proteins were expressed at lower levels than wildtype EPCAM and that none of the mutant proteins localized to the plasma membrane. Most truncation mutations resulted in loss of the C-terminal transmembrane domain, and several mutant proteins were either secreted or degraded in the ER. Mutations that resulted in a frameshift were also degraded in the ER. </p><p>In a study of 57 patients from 46 families who were clinically diagnosed with congenital tufting enteropathy, Salomon et al. (2014) identified EPCAM mutations in 41 patients (73%) and SPINT2 (605124) mutations in 12 patients (21%) (see DIAR3, 270420). All patients with SPINT2 mutations exhibited syndromic features, including superficial punctate keratitis and choanal atresia, as well as other atresias, dermatologic anomalies, and bone malformations, whereas the patients with EPCAM mutations had isolated congenital diarrhea. </p><p><strong><em>Lynch Syndrome 8</em></strong></p><p>
|
|
Ligtenberg et al. (2009) described patients from Dutch and Chinese families with MSH2 (609309)-deficient colorectal tumors (LYNCH8; 613244) carrying heterozygous germline deletions of the last exons of TACSTD1 (185535.0005, 185535.0006), the gene directly upstream of MSH2. The deletions caused the transcription of TACSTD1 to extend into MSH2. The MSH2 promoter in cis with the deletion was methylated in EPCAM-positive but not in EPCAM-negative normal tissues, thus revealing a correlation between activity of the mutated TACSTD1 allele and epigenetic inactivation of the corresponding MSH2 allele. Gene silencing by transcriptional read-through of a neighboring gene in either sense or antisense direction could represent a general mutational mechanism. Depending on the expression pattern of the neighboring gene that lacks its normal polyadenylation signal, this may cause either generalized or mosaic patterns of epigenetic inactivation. </p><p>Kuiper et al. (2011) analyzed 45 Lynch syndrome families with EPCAM deletions, including 27 families ascertained through targeted genomic screens in cohorts of unexplained Lynch-like families and 18 previously studied families with known EPCAM deletions. Overall, 19 different deletions were found, all of which included the last 2 exons and the transcription termination signal of EPCAM. All deletions appeared to originate from Alu-repeat mediated recombination events; in 17 cases, regions of microhomology around the breakpoints were found, suggesting nonallelic homologous recombination as the most likely mechanism. Within the Netherlands and Germany, EPCAM deletions appeared to represent at least 2.8% and 1.1% of the confirmed Lynch syndrome families, respectively. Kuiper et al. (2011) concluded that 3-prime EPCAM deletions are a recurrent cause of Lynch syndrome and should be sought in routine Lynch syndrome diagnostic testing. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Linnenbach et al. (1993) localized the GA733-2 (EPCAM) gene to 4q by analysis of human/rodent somatic cell hybrids. </p><p>Meyaard et al. (2001) presented evidence suggesting that EPCAM is a ligand for LAIR1 (602992) and LAIR2 (602993). However, the authors later retracted their paper after further studies showed that EPCAM is not a ligand for LAIR1 and LAIR2 and that their prior results were an artifact resulting from contamination. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, IVS4DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231203,
|
|
|
|
|
|
gnomAD: rs606231203,
|
|
|
|
|
|
ClinVar: RCV000013609, RCV003162250, RCV004018623, RCV004794337
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a kindred of Mexican American descent in which 2 boys who were double second cousins had congenital tufting enteropathy (DIAR5; 613217), Sivagnanam et al. (2008) identified homozygosity for a G-A transition at the donor splice site (c.491+1G-A) of exon 4 of the EPCAM gene in the affected individuals. The parents and an unaffected sib were heterozygous for the mutation, which was not detected in 400 controls, including 200 of Mexican American descent. RT-PCR analysis of patient duodenal tissue demonstrated a novel alternative splice form with deletion of exon 4. Western blot showed significantly decreased expression of EPCAM in intestinal tissue from 1 of the CTE patients, compared to 2 controls and 1 control patient with inflammatory bowel disease. </p><p>Schnell et al. (2013) studied the c.491+1G-A mutation, which was predicted to result in a deletion (Trp143_Thr164del). Functional analysis in HEK293T cells demonstrated that the mutant is retained in the endoplasmic reticulum (ER), causing loss of the cell surface localization observed with wildtype EPCAM. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, IVS3AS, G-A, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs373597944,
|
|
|
|
|
|
gnomAD: rs373597944,
|
|
|
|
|
|
ClinVar: RCV000013610, RCV000588760
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 12-year-old native Canadian patient with congenital tufting enteropathy (DIAR5; 613217), Sivagnanam et al. (2008) identified homozygosity for a G-A transition at the acceptor splice site (c.427-1G-A) of exon 4 of the EPCAM gene. The mutation was not found in more than 170 North American control DNA samples. </p><p>Schnell et al. (2013) designated this EPCAM intron 3 mutation c.426-1G-A and predicted that it would result in a deletion (Trp143_Thr164del). Functional analysis in HEK293T cells demonstrated that the mutant is retained in the ER, causing loss of the cell surface localization observed with wildtype EPCAM. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, CYS66TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267606785,
|
|
|
|
|
|
|
|
ClinVar: RCV000013611
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-year-old Russian patient with congenital tufting enteropathy (DIAR5; 613217), Sivagnanam et al. (2008) identified heterozygosity for a c.200G-A transition in exon 3 of the EPCAM gene, predicted to cause a cys66-to-tyr (C66Y) substitution. The mutation was not found in more than 170 North American control DNA samples. Noting that most families reported with CTE are consanguineous or follow a pattern consistent with autosomal recessive inheritance, Sivagnanam et al. (2008) stated that although it was possible that CTE was transmitted in an autosomal dominant fashion in this patient, compound heterozygosity with a second mutation in an unsequenced noncoding region of the EPCAM gene was also possible. </p><p>Schnell et al. (2013) restudied the Russian patient with CTE/DIAR5 in whom Sivagnanam et al. (2008) originally detected only a heterozygous C66Y substitution, and identified an additional intronic mutation in the EPCAM gene (c.556-14A-G; 185535.0009), which was predicted to result in a premature termination codon (Tyr186PhefsTer6). </p><p>Schnell et al. (2013) designated the transition resulting in the C66Y substitution c.197G-A. By nonreducing PAGE analysis of transfected HEK293T cells, Schnell et al. (2013) found that EPCAM with the C66Y mutation formed a dimer. They hypothesized that, since C66 is normally engaged in a disulfide bond with C99, free C99 in mutant EPCAM may engage in intermolecular dimerization. The C66Y mutant was retained and degraded in the endoplasmic reticulum, causing loss of the cell surface localization observed with wildtype EPCAM. In immunostained transfected HEK293T cells, Schnell et al. (2013) also observed that the c.556-14A-G mutant was minimally detectable and was not present at the cell surface. Western blot analysis indicated that the truncated mutant is expressed, leading the authors to suggest that it is likely degraded. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, 1-BP INS, 498C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231204,
|
|
|
|
|
|
|
|
ClinVar: RCV000013612, RCV000521713, RCV004751210
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient born of first-cousin parents, who had congenital tufting enteropathy (DIAR5; 613217) and developed chronic inflammatory arthritis at 4 years of age, Al-Mayouf et al. (2009) identified homozygosity for a 1-bp insertion (c.498insC) in exon 5 of the EPCAM gene, causing a frameshift resulting in a premature termination codon (Gln167ProfsTer21). </p><p>In affected individuals from 4 unrelated consanguineous Kuwaiti families and 1 consanguineous Qatari family, who had severe neonatal diarrhea and typical tufting on intestinal biopsies, Salomon et al. (2011) identified homozygosity for the c.498insC mutation in the EPCAM gene. The mutation was not found in 119 ethnically matched controls. In 2 additional patients from unrelated Kuwaiti families, the c.498insC mutation was found in compound heterozygosity with a splice site mutation (185535.0008). Both mutations were predicted to truncate the C-terminal domain necessary for anchorage of EPCAM at the intercellular membrane, and immunohistochemistry of intestinal biopsies failed to detect EPCAM protein at this membrane. Haplotype analysis using microsatellite markers revealed that carriers of the c.498insC mutation shared a minimal common haplotype of 473 kb, consistent with a founder effect that occurred approximately 5,000 to 6,000 years earlier (190 generations removed) in this population. </p><p>In immunostained transfected HEK293T cells, Schnell et al. (2013) observed that the 498insC mutant was minimally detectable and was not present at the cell surface, in contrast to wildtype EPCAM. Western blot analysis indicated that the truncated mutant is expressed, leading the authors to suggest that it is likely degraded. </p><p>Salomon et al. (2014) noted that the c.498insC mutation is sometimes designated c.499dup. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 LYNCH SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, 5-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000013613
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 Dutch families with colorectal cancer (LYNCH8; 613244) showing high microsatellite instability (MSI-high) and loss of MSH2 (609309) protein, but in which no mutations in MSH2 were found, Ligtenberg et al. (2009) detected a heterozygous 5-kb deletion encompassing the 2 most 3-prime exons of the TACSTD1 gene while leaving the promoter region of the MSH2 gene intact. Sequence analysis defined the deletion breakpoints with an intervening deletion of 4,909 bp, denoted 859-1462_*1999del, of the TACSTD1 cDNA. Haplotype analysis suggested that this mutation originated from a common founder. All 6 MSI-high tumors from these families showed methylation of the MSH2 promoter by methylation-specific PCR and subsequent bisulfite sequencing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 LYNCH SYNDROME 8</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, 22.8-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000013614
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Chan et al. (2006) reported a family with inheritance, in 3 successive generations, of germline allele-specific and mosaic hypermethylation of the MSH2 gene (609309), without evidence of DNA mismatch repair gene mutation. Three sibs carrying the germline methylation developed early-onset colorectal or endometrial cancers (LYNCH8; 613244), all with microsatellite instability and MSH2 protein loss. The authors demonstrated different methylation levels in different somatic tissues, with the highest level recorded in rectal mucosa and colon cancer tissue, and the lowest in blood leukocytes. Although the underlying mechanism remained unclear, it was considered possible that the methylation is controlled by a genetic event associated with the disease haplotype. </p><p>Ligtenberg et al. (2009) analyzed the family reported by Chan et al. (2006) with heritable MSH2 promoter methylation and identified a heterozygous deletion of 22.8 kb (TACSTD1 cDNA, 555+894_*14194del) that segregated with the disease. The deletion extended from intron 5 of the TACSTD1 gene to approximately 2.4 kb upstream of MSH2, encompassing the 3-prime end of TACSTD1 and leaving the MSH2 promoter intact. Ligtenberg et al. (2009) identified the same mutation in another Chinese family; there was no evidence for a founder mutation. RT- and methylation-specific PCR of tissue samples from affected individuals showed that methylation of MSH2 was limited to TACSTD1-expressing cells. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, ARG138TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514661,
|
|
|
|
|
|
gnomAD: rs397514661,
|
|
|
|
|
|
ClinVar: RCV000033250, RCV003162287
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female infant with congenital tufting enteropathy (DIAR5; 613217), Sivagnanam et al. (2010) identified homozygosity for a 412C-T transition in exon 3 of the EPCAM gene, resulting in an arg138-to-ter (R138X) substitution. The unaffected first-cousin parents of Pakistani descent were heterozygous for the mutation. Fluorescent immunohistochemical staining of duodenal biopsy tissue from the patient demonstrated markedly decreased EPCAM staining throughout the tissue sample compared to control. </p><p>In immunostained transfected HEK293T cells, Schnell et al. (2013) observed that the R138X mutant was minimally detectable and was not present at the cell surface, in contrast to wildtype EPCAM. Western blot analysis indicated that the truncated mutant is expressed and secreted. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, IVS4AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231281,
|
|
|
|
|
|
|
|
ClinVar: RCV000144937, RCV000519022
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient with severe neonatal diarrhea and enterocyte tufting (DIAR5; 613217), from a consanguineous Kuwaiti family, Salomon et al. (2011) identified homozygosity for a -2A-G transition in intron 4 of the EPCAM gene (IVS4-2A-G), which was not found in 119 ethnically matched controls. Sequencing of RT-PCR products demonstrated that the splice site mutation caused abnormal skipping of exon 5. In 2 additional patients from unrelated Kuwaiti families, the IVS4-2A-G mutation was found in compound heterozygosity with a recurrent c.498insC mutation (185535.0004). Both mutations were predicted to truncate the C-terminal domain necessary for anchorage of EPCAM at the intercellular membrane, and immunohistochemistry of intestinal biopsies failed to detect EPCAM protein at this membrane. Haplotype analysis using microsatellite markers showed that a common haplotype of more than 14.1 Mb segregated with the IVS4-2A-G mutation, suggesting a founder effect that occurred less than 40 generations earlier in this population. </p><p>Schnell et al. (2013) studied the IVS4 EPCAM mutant, which they designated c.492-2A-G and which was predicted to result in premature termination (Ala165MetfsTer24). In immunostained transfected HEK293T cells, the c.492-2A-G mutant was minimally detectable and was not present at the cell surface, in contrast to wildtype EPCAM. Western blot analysis indicated that the truncated mutant is expressed, leading the authors to suggest that it is likely degraded. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPCAM, IVS5AS, A-G, -14
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs376155665,
|
|
|
|
|
|
gnomAD: rs376155665,
|
|
|
|
|
|
ClinVar: RCV000144936, RCV000763487, RCV003654209, RCV004751287
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the splice site mutation in the EPCAM gene (c.556-14A-G) that was found in compound heterozygous state in a patient with congenital tufting enteropathy (DIAR5; 613217) by Schnell et al. (2013), see 185535.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Al-Mayouf, S. M., Alswaied, N., Alkuraya, F. S., AlMehaidib, A., Faqih, M.
|
|
<strong>Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation.</strong>
|
|
J. Pediat. Gastroent. Nutr. 49: 642-644, 2009.
|
|
|
|
|
|
[PubMed: 19820410]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/MPG.0b013e3181acaeae]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Calabrese, G., Crescenzi, C., Morizio, E., Palka, G., Guerra, E., Alberti, S.
|
|
<strong>Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization.</strong>
|
|
Cytogenet. Cell Genet. 92: 164-165, 2001.
|
|
|
|
|
|
[PubMed: 11306819]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000056891]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chan, T. L., Yuen, S. T., Kong, C. K., Chan, Y. W., Chan, A. S. Y., Ng, W. F., Tsui, W. Y., Lo, M. W. S., Tam, W. Y., Li, V. S. W., Leung, S. Y.
|
|
<strong>Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer.</strong>
|
|
Nature Genet. 38: 1178-1183, 2006.
|
|
|
|
|
|
[PubMed: 16951683]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1866]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Durbin, H., Rodrigues, N., Bodmer, W. F.
|
|
<strong>Further characterization, isolation and identification of the epithelial cell-surface antigen defined by monoclonal antibody AUAI.</strong>
|
|
Int. J. Cancer 45: 562-565, 1990.
|
|
|
|
|
|
[PubMed: 2307544]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ijc.2910450331]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kuiper, R. P., Vissers, L. E. L. M., Venkatachalam, R., Bodmer, D., Hoenselaar, E., Goossens, M., Haufe, A., Kamping, E., Niessen, R. C., Hogervorst, F. B. L., Gille, J. J. P., Redeker, B., and 23 others.
|
|
<strong>Recurrence and variability of germline EPCAM deletions in Lynch syndrome.</strong>
|
|
Hum. Mutat. 32: 407-414, 2011.
|
|
|
|
|
|
[PubMed: 21309036]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.21446]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., Tsui, W. Y., Kong, C. K., Brunner, H. G., Geurts van Kessel, A., Yuen, S. T., van Krieken, J. H. J. M., Leung, S. Y., Hoogerbrugge, N.
|
|
<strong>Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1.</strong>
|
|
Nature Genet. 41: 112-117, 2009.
|
|
|
|
|
|
[PubMed: 19098912]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.283]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Linnenbach, A. J., Seng, B. A., Wu, S., Robbins, S., Scollon, M., Pyrc, J. J., Druck, T., Huebner, K.
|
|
<strong>Retroposition in a family of carcinoma-associated antigen genes.</strong>
|
|
Molec. Cell Biol. 13: 1507-1515, 1993.
|
|
|
|
|
|
[PubMed: 8382772]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1128/mcb.13.3.1507-1515.1993]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meyaard, L., van der Vuurst de Vries, A.-R., de Ruiter, T., Lanier, L. L., Phillips, J. H., Clevers, H.
|
|
<strong>The epithelial cellular adhesion molecule (Ep-CAM) is a ligand for the leukocyte-associated immunoglobulin-like receptor (LAIR).</strong>
|
|
J. Exp. Med. 194: 107-112, 2001. Note: Retraction: J. Exp. Med. 198: 1129 only, 2003.
|
|
|
|
|
|
[PubMed: 11435477]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1084/jem.194.1.107]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Perez, M. S., Walker, L. E.
|
|
<strong>Isolation and characterization of a cDNA encoding the KS1/4 epithelial carcinoma marker.</strong>
|
|
J. Immun. 142: 3662-3667, 1989.
|
|
|
|
|
|
[PubMed: 2469722]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Salomon, J., Espinosa-Parrilla, Y., Goulet, O., Al-Qabandi, W., Guigue, P., Canioni, D., Bruneau, J., Alzahrani, F., Almuhsen, S., Cerf-Bensussan, N., Jeanpierre, M., Brousse, N., Lyonnet, S., Munnich, A., Smahi, A.
|
|
<strong>A founder effect at the EPCAM locus in congenital tufting enteropathy in the Arabic Gulf.</strong>
|
|
Europ. J. Med. Genet. 54: 319-322, 2011.
|
|
|
|
|
|
[PubMed: 21315192]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ejmg.2011.01.009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Salomon, J., Goulet, O., Canioni, D., Brousse, N., Lemale, J., Tounian, P., Coulomb, A., Marinier, E., Hugot, J.-P., Ruemmele, F., Dufier, J.-L., Roche, O., and 14 others.
|
|
<strong>Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.</strong>
|
|
Hum. Genet. 133: 299-310, 2014.
|
|
|
|
|
|
[PubMed: 24142340]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-013-1380-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schnell, U., Kuipers, J., Mueller, J. L., Veenstra-Algra, A., Sivagnanam, M., Giepmans, B. N. G.
|
|
<strong>Absence of cell-surface EpCAM in congenital tufting enteropathy.</strong>
|
|
Hum. Molec. Genet. 22: 2566-2571, 2013.
|
|
|
|
|
|
[PubMed: 23462293]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddt105]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sivagnanam, M., Mueller, J. L., Lee, H., Chen, Z., Nelson, S. F., Turner, D., Zlotkin, S. H., Pencharz, P. B., Ngan, B.-Y., Libiger, O., Schork, N. J., Lavine, J. E., Taylor, S., Newbury, R. O., Kolodner, R. D., Hoffman, H. M.
|
|
<strong>Identification of EpCAM as the gene for congenital tufting enteropathy.</strong>
|
|
Gastroenterology 135: 429-437, 2008.
|
|
|
|
|
|
[PubMed: 18572020]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1053/j.gastro.2008.05.036]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sivagnanam, M., Schaible, T., Szigeti, R., Byrd, R. H., Finegold, M. J., Ranganathan, S., Gopalakrishna, G. S., Tatevian, N., Kellermayer, R.
|
|
<strong>Further evidence for EpCAM as the gene for congenital tufting enteropathy. (Letter)</strong>
|
|
Am. J. Med. Genet. 152A: 222-224, 2010.
|
|
|
|
|
|
[PubMed: 20034091]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.33186]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Spurr, N. K., Durbin, H., Sheer, D., Parkar, M., Bobrow, L., Bodmer, W. F.
|
|
<strong>Characterization and chromosomal assignment of a human cell surface antigen defined by the monoclonal antibody AUAI.</strong>
|
|
Int. J. Cancer 38: 631-636, 1986.
|
|
|
|
|
|
[PubMed: 3770992]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ijc.2910380503]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Strnad, J., Hamilton, A. E., Beavers, L. S., Gamboa, G. C., Apelgren, L. D., Taber, L. D., Sportsman, J. R., Bumol, T. F., Sharp, J. D., Gadski, R. A.
|
|
<strong>Molecular cloning and characterization of a human adenocarcinoma/epithelial cell surface antigen complementary DNA.</strong>
|
|
Cancer Res. 49: 314-317, 1989.
|
|
|
|
|
|
[PubMed: 2463074]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Szala, S., Froehlich, M., Scollon, M., Kasai, Y., Steplewski, Z., Koprowski, H., Linnenbach, A. J.
|
|
<strong>Molecular cloning of cDNA for the carcinoma-associated antigen GA733-2.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 3542-3546, 1990.
|
|
|
|
|
|
[PubMed: 2333300]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.87.9.3542]
|
|
|
|
|
|
</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">
|
|
Matthew B. Gross - updated : 11/12/2014<br>Marla J. F. O'Neill - updated : 11/11/2014<br>Patricia A. Hartz - updated : 9/5/2013<br>Marla J. F. O'Neill - updated : 3/13/2013<br>Marla J. F. O'Neill - updated : 9/14/2011<br>Ada Hamosh - updated : 2/4/2010<br>Marla J. F. O'Neill - updated : 1/12/2010<br>Joanna S. Amberger - updated : 6/10/2002<br>Paul J. Converse - updated : 10/4/2001<br>Mark H. Paalman - updated : 4/25/1996
|
|
</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 : 7/3/1991
|
|
</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">
|
|
carol : 11/15/2022<br>carol : 06/27/2019<br>carol : 12/18/2017<br>joanna : 08/04/2016<br>mcolton : 08/04/2015<br>mgross : 11/12/2014<br>carol : 11/11/2014<br>mcolton : 11/11/2014<br>carol : 9/22/2014<br>mgross : 9/5/2013<br>carol : 3/13/2013<br>terry : 3/13/2013<br>carol : 9/14/2011<br>terry : 9/14/2011<br>alopez : 2/4/2010<br>alopez : 2/4/2010<br>carol : 1/13/2010<br>carol : 1/12/2010<br>mgross : 3/23/2005<br>alopez : 6/19/2002<br>joanna : 6/12/2002<br>alopez : 3/6/2000<br>supermim : 3/16/1992<br>carol : 7/3/1991
|
|
</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 5, 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>
|
|
|
|
|