9016 lines
798 KiB
Text
9016 lines
798 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
|
|
|
|
- *120180 - COLLAGEN, TYPE III, ALPHA-1; COL3A1
|
|
|
|
|
|
- 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=120180"><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">*120180</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="#description">Description</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="#geneFunction">Gene Function</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/120180">Table View</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></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=ENSG00000168542;t=ENST00000304636" 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=1281" 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=120180" 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=ENSG00000168542;t=ENST00000304636" 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_000090" 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_000090" 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=120180" 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=00365&isoform_id=00365_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/COL3A1" 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/30054,30058,30061,180411,180412,180413,180414,180416,180418,180814,180816,180879,930045,1195577,1335248,1335249,1340174,4261637,16197601,20380052,62988777,119631314,119631315,119631316,124056490,270048012,494319369,583075128,583765366,1780266031" 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/P02461" 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=1281" 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=ENSG00000168542;t=ENST00000304636" 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=COL3A1" 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=COL3A1" 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+1281" 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/COL3A1" 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:1281" 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/1281" 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=ENST00000304636.9&hgg_start=188974373&hgg_end=189012746&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:2201" 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:2201" 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://medlineplus.gov/genetics/gene/col3a1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=120180[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=120180[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://www.deciphergenomics.org/gene/COL3A1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000168542" 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=COL3A1" 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=COL3A1" 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=COL3A1" 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="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
|
|
<div id="mimLocusSpecificDBsFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="http://www.le.ac.uk/genetics/collagen/" title="Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Database of osteogenesis i…</a></div><div style="margin-left: 0.5em;"><a href="http://www.umd.be/COL3A1/" title="The UMD COL3A1 mutations database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">The UMD COL3A1 mutations d…</a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=COL3A1&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/PA26716" 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:2201" 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:88453" 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/COL3A1#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:88453" 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/1281/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=1281" 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>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:120180" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div 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:1281" 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=COL3A1&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">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 17025000<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q79.63<br />
|
|
|
|
|
|
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
120180
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
COLLAGEN, TYPE III, ALPHA-1; COL3A1
|
|
|
|
</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">
|
|
COLLAGEN, FETAL<br />
|
|
COLLAGEN, BLOOD VESSEL
|
|
</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=COL3A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL3A1</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/2/854?start=-3&limit=10&highlight=854">2q32.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:188974373-189012746&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'})">2:188,974,373-189,012,746</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=130050,618343" 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/2/854?start=-3&limit=10&highlight=854">
|
|
2q32.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ehlers-Danlos syndrome, vascular type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/130050"> 130050 </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>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Polymicrogyria with or without vascular-type EDS
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/618343"> 618343 </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>
|
|
|
|
|
|
|
|
|
|
</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/120180" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/120180" 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="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Type III collagen is a fibrillar-forming collagen comprising 3 alpha-1(III) chains and is expressed in early embryos and throughout embryogenesis. In adult, type III collagen is a major component of the extracellular matrix in a variety of internal organs and skin (<a href="#33" class="mim-tip-reference" title="Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R. <strong>Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.</strong> Proc. Nat. Acad. Sci. 94: 1852-1856, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9050868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9050868</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9050868[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.5.1852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9050868">Liu et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9050868" 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="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="#18" class="mim-tip-reference" title="Janeczko, R. A., Ramirez, F. <strong>Nucleotide and amino acid sequences of the entire human alpha-1(III) collagen.</strong> Nucleic Acids Res. 17: 6742, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2780304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2780304</a>] [<a href="https://doi.org/10.1093/nar/17.16.6742" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2780304">Janeczko and Ramirez (1989)</a> presented the nucleotide and amino acid sequences of type III collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2780304" 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="#22" class="mim-tip-reference" title="Jorgensen, A., Fagerheim, T., Rand-Hendriksen, S., Lunde, P. I., Vorren, T. O., Pepin, M. G., Leistritz, D. F., Byers, P. H. <strong>Vascular Ehlers-Danlos syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.</strong> Europ. J. Hum. Genet. 23: 796-802, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25205403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25205403</a>] [<a href="https://doi.org/10.1038/ejhg.2014.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25205403">Jorgensen et al. (2015)</a> noted that the fourth exon in the COL3A1 gene (residues 112 to 149 of the protein) appears to have fused the sequences equivalent to exons 4 and 5 in other fibrillar collagens. Thus, it is named exon 4/5 and the subsequent exon is designated exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25205403" 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>Using a cloned gene as a probe on Southern blots of DNA from a panel of interspecies somatic cell hybrids, <a href="#61" class="mim-tip-reference" title="Solomon, E., Hiorns, L. R., Spurr, N., Kurkinen, M., Barlow, D., Hogan, B. L. M., Dalgleish, R. <strong>Chromosomal assignments of the genes coding for human types II, III and IV collagen: a dispersed gene family.</strong> Proc. Nat. Acad. Sci. 82: 3330-3334, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2987919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2987919</a>] [<a href="https://doi.org/10.1073/pnas.82.10.3330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2987919">Solomon et al. (1985)</a> assigned the COL3A1 gene to chromosome 2. <a href="#40" class="mim-tip-reference" title="Mudryj, M., Merry, D. E., de Crombrugghe, B., McBride, O. W. <strong>Human collagen III (COL3A1) is on chromosome 2q. (Abstract)</strong> Cytogenet. Cell Genet. 40: 704, 1985."None>Mudryj et al. (1985)</a> independently assigned COL3A1 to chromosome 2q. <a href="#9" class="mim-tip-reference" title="Emanuel, B. S., Cannizzaro, L. A., Seyer, J. M., Myers, J. C. <strong>Human alpha-1(III) and alpha-2(V) procollagen genes are located on the long arm of chromosome 2.</strong> Proc. Nat. Acad. Sci. 82: 3385-3389, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3858826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3858826</a>] [<a href="https://doi.org/10.1073/pnas.82.10.3385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3858826">Emanuel et al. (1985)</a> concluded that both the alpha-1(III) and the alpha-2(V) procollagen genes map to chromosome 2q24.3-q31. To the time of this report, this was the only example of synteny of procollagen genes. By somatic cell hybrid studies and in situ hybridization, <a href="#17" class="mim-tip-reference" title="Huerre-Jeanpierre, M., Mattei, M.-G., Weil, D., Grzeschik, K. H., Chu, M.-L., Sangiorgi, F. O., Sobel, M. E., Ramirez, F., Junien, C. <strong>Further evidence for the dispersion of the human fibrillar collagen genes.</strong> Am. J. Hum. Genet. 38: 26-37, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3004202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3004202</a>]" pmid="3004202">Huerre-Jeanpierre et al. (1986)</a> assigned the COL3A1 gene to chromosome 2q31-q32.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3858826+3004202+2987919" 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="#69" class="mim-tip-reference" title="Tsipouras, P., Schwartz, R. C., Liddell, A. C., Salkeld, C. S., Weil, D., Ramirez, F. <strong>Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.</strong> Genomics 3: 275-277, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3224983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3224983</a>] [<a href="https://doi.org/10.1016/0888-7543(88)90089-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3224983">Tsipouras et al. (1988)</a> demonstrated that the COL3A1 and the COL5A2 (<a href="/entry/120190">120190</a>) genes are very close together; they found a maximum lod score of 9.33 at a recombination fraction of 0.00. <a href="#6" class="mim-tip-reference" title="Cutting, G. R., McGinniss, M. J., Kasch, L. M., Tsipouras, P., Antonarakis, S. E. <strong>Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35 kb region on human chromosome 2.</strong> Genomics 8: 407-410, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979060</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90302-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1979060">Cutting et al. (1990)</a> showed by pulsed field gel electrophoresis that the COL3A1 and COL5A2 genes are in the same 35 kb segment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1979060+3224983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By fluorescence in situ hybridization, <a href="#32" class="mim-tip-reference" title="Limongi, M. Z., Pelliccia, F., Rocchi, A. <strong>Assignment of the human nebulin gene (NEB) to chromosome band 2q24.2 and the alpha-1 (III) collagen gene (COL3A1) to chromosome band 2q32.2 by in situ hybridization: the FRA2G common fragile site lies between the two genes in the 2q31 band.</strong> Cytogenet. Cell Genet. 77: 259-260, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9284930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9284930</a>] [<a href="https://doi.org/10.1159/000134590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9284930">Limongi et al. (1997)</a> concluded that the COL3A1 gene is located in chromosome band 2q32.2 and that the nebulin gene (<a href="/entry/161650">161650</a>) is located in band 2q24.2; the FRA2G fragile site was found to lie between the 2 genes in the 2q31 band. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9284930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 10/28/2013."None>Hartz (2013)</a> mapped the COL3A1 gene to chromosome 2q32.2 based on an alignment of the COL3A1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=M11134" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">M11134</a>) with the genomic sequence (GRCh37).</p><p>To define the limits of the homologous segment between human chromosome 2 and proximal mouse chromosome 1, <a href="#57" class="mim-tip-reference" title="Schurr, E., Skamene, E., Morgan, K., Chu, M.-L., Gros, P. <strong>Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q.</strong> Genomics 8: 477-486, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1981051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1981051</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90034-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1981051">Schurr et al. (1990)</a> determined the segregation of the mouse homologs of 7 human genes located on 2q with anchor loci on mouse chromosome 1. They concluded that COL3A1 and COL6A3 (<a href="/entry/120250">120250</a>) defined the limits of a homologous segment that in the mouse covers slightly more than 30 cM. They suggested that the order of loci in this segment of the mouse chromosome might be the same as the order in the human homolog. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1981051" 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="geneFunction" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Using synthetic triple-helical collagen-like peptides derived from the sequence of human and bovine type III collagen, <a href="#19" class="mim-tip-reference" title="Jarvis, G. E., Raynal, N., Langford, J. P., Onley, D. J., Andrews, A., Smethurst, P. A., Farndale, R. W. <strong>Identification of a major GpVI-binding locus in human type III collagen.</strong> Blood 111: 4986-4996, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18305222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18305222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18305222[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/10.1182/blood-2007-08-108472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18305222">Jarvis et al. (2008)</a> identified several peptides that interacted with mouse and human GP VI (GP6; <a href="/entry/605546">605546</a>). In particular, 1 peptide designated III-30 bound both mouse and human platelets in a GP VI-dependent manner. The III-30 peptide contained 3 hydroxyproline (O) residues within its OGP/GPO motifs, and modification of the III-30 peptide sequence indicated that these hydroxyproline residues played a significant role in supporting its GP VI reactivity, although motifs other than OGP/GPO contributed to the interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18305222" 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>Type III collagen serves as a ligand for the adhesion receptor GPR56 (ADGRG1; <a href="/entry/604110">604110</a>). This interaction regulates the integrity of the pial basement membrane and cortical lamination in the brain, which is important for neuronal migration (summary by <a href="#71" class="mim-tip-reference" title="Vandervore, L., Stouffs, K., Tanyalcin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jorgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H., Jansen, A. C. <strong>Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.</strong> J. Med. Genet. 54: 432-440, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28258187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28258187</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28258187">Vandervore et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28258187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#3" class="mim-tip-reference" title="Byers, P. H. <strong>Personal Communication.</strong> Seattle, Wash. 9/23/1993."None>Byers (1993)</a> estimated that there are approximately 25 known mutations in the COL3A1 gene. These are divided about equally between point mutations that change a gly residue to another amino acid and exon skipping mutations. In the case of the COL1A1 gene, exon skipping mutations are much less frequent than point mutations. The COL3A1 gene also has an unusually high frequency of multi-exon deletions.</p><p><a href="#70" class="mim-tip-reference" title="van den Berg, J. S. P., Limburg, M., Kappelle, L. J., Pals, G., Arwert, F., Westerveld, A. <strong>The role of type III collagen in spontaneous cervical arterial dissections.</strong> Ann. Neurol. 43: 494-498, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9546331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9546331</a>] [<a href="https://doi.org/10.1002/ana.410430413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9546331">Van den Berg et al. (1998)</a> studied the ratio of type III to type I collagen in fibroblast cultures from 16 patients with spontaneous cervical arterial dissections. Two of these patients had a low ratio of type III to type I, but no mutations in the type III collagen gene were detected by SSCP heteroduplex analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9546331" 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="#29" class="mim-tip-reference" title="Kuivaniemi, H., Tromp, G., Prockop, D. J. <strong>Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.</strong> Hum. Mutat. 9: 300-315, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9101290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9101290</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9101290">Kuivaniemi et al. (1997)</a> tabulated all reported disease-producing mutations in the COL3A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9101290" 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>Ehlers-Danlos Syndrome, Vascular Type</em></strong></p><p>
|
|
In 33 unrelated individuals or families with EDS type IV, the vascular type of EDS (EDSVASC; <a href="/entry/130050">130050</a>), <a href="#58" class="mim-tip-reference" title="Schwarze, U., Goldstein, J. A., Byers, P. H. <strong>Splicing defects in the COL3A1 gene: marked preference for 5-prime (donor) splice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 61: 1276-1286, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399899</a>] [<a href="https://doi.org/10.1086/301641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399899">Schwarze et al. (1997)</a> identified heterozygous mutations that affect splicing of the COL3A1 mRNA, of which 30 were point mutations at splice junctions and 3 were small deletions that removed splice-junction sequences and partial exon sequences. With the exception of 1 point mutation at a donor site, which led to partial intron inclusion, and a single-basepair substitution at an acceptor site, which gave rise to inclusion of the complete upstream intron into the mature mRNA, all mutations resulted in deletion of a single exon as the only splice alteration. Of the exon-skipping mutations that were due to single-base substitutions, which they had identified in 28 separate individuals, only 2 affected the splice-acceptor site. The underrepresentation of splice acceptor site mutations suggested to <a href="#58" class="mim-tip-reference" title="Schwarze, U., Goldstein, J. A., Byers, P. H. <strong>Splicing defects in the COL3A1 gene: marked preference for 5-prime (donor) splice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 61: 1276-1286, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399899</a>] [<a href="https://doi.org/10.1086/301641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399899">Schwarze et al. (1997)</a> that the favored consequence of 3-prime mutations may be the use of an alternative acceptor site that creates a null allele with a premature termination codon. Phenotypes of these mutations may differ, with respect to either their severity or their symptomatic range, from the usual presentation of EDS type IV, and thus were excluded from the analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399899" 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="#14" class="mim-tip-reference" title="Hamel, B. C. J., Pals, G., Engels, C. H. A. M., van den Akker, E., Boers, G. H. J., van Dongen, P. W. J., Steijlen, P. M. <strong>Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.</strong> Clin. Genet. 53: 440-446, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9712532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9712532</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1998.tb02592.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9712532">Hamel et al. (1998)</a> described 11 patients with a clinical phenotype consistent with the diagnosis of EDS and all with collagen III abnormalities. Collagen V appeared to be normal in all. The clinical diagnosis had been EDS II (see <a href="/entry/130000">130000</a>), III (<a href="/entry/130020">130020</a>), or IV. There appeared to be no correlation between the type of collagen III anomaly and the clinical phenotype. <a href="#14" class="mim-tip-reference" title="Hamel, B. C. J., Pals, G., Engels, C. H. A. M., van den Akker, E., Boers, G. H. J., van Dongen, P. W. J., Steijlen, P. M. <strong>Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.</strong> Clin. Genet. 53: 440-446, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9712532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9712532</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1998.tb02592.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9712532">Hamel et al. (1998)</a> concluded that type III collagen abnormalities lead to a phenotypic spectrum and that it is impossible to predict severity and course of the disease from the biochemical defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9712532" 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="#13" class="mim-tip-reference" title="Gilchrist, D., Schwarze, U., Shields, K., MacLaren, L., Bridge, P. J., Byers, P. H. <strong>Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.</strong> Am. J. Med. Genet. 82: 305-311, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051163</a>]" pmid="10051163">Gilchrist et al. (1999)</a> identified a gly571-to-ser mutation (<a href="#0026">120180.0026</a>) in the COL3A1 gene in a large family with a milder phenotype than that typically associated with EDS type IV. They suggested that the nature of the substitution and its position may play a role in phenotype determination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051163" 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="#46" class="mim-tip-reference" title="Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H. <strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong> New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>] [<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706896">Pepin et al. (2000)</a> determined the underlying COL3A1 mutation in 135 index patients with Ehlers-Danlos syndrome type IV. They found no association between types of complications and specific mutations in COL3A1. Four mutations led to the deletion of multiple exons, and 41 led to the skipping of a single exon. One mutation, ivs24+1G-A, led to the skipping of exon 24 in 7 unrelated index patients. In a total of 85 index patients, 73 different point mutations led to the substitution of some other amino acid for glycine in various regions of the triple-helical domain. A number of mutations--G16S (<a href="#0027">120180.0027</a>) (7 families) and G82D (<a href="#0028">120180.0028</a>), G373R (<a href="#0029">120180.0029</a>), G385E (<a href="#0030">120180.0030</a>), G415S (<a href="#0024">120180.0024</a>), G499D (<a href="#0022">120180.0022</a>), and G1021E (<a href="#0017">120180.0017</a>) (2 families each)--were identified multiple times in unrelated index patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" 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="#38" class="mim-tip-reference" title="Mizuno, K., Boudko, S, Engel, J., Bachinger, H. P. <strong>Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.</strong> J. Biol. Chem. 288: 19166-19176, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23645670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23645670</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23645670[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/10.1074/jbc.M113.462002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23645670">Mizuno et al. (2013)</a> reported that EDS-associated mutations in the middle or close to the C terminus of COL3A1, including gly910 to val (<a href="#0010">120180.0010</a>), significantly slowed the overall rate of triple-helix formation by COL3A1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23645670" 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>Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome</em></strong></p><p>
|
|
<a href="#48" class="mim-tip-reference" title="Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K. <strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong> Europ. J. Hum. Genet. 17: 1411-1416, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19455184">Plancke et al. (2009)</a> reported an 11-year-old French girl, born of consanguineous parents, with polymicrogyria with vascular-type EDS (PMGEDSV; <a href="/entry/618343">618343</a>), who was found to carry a homozygous truncating mutation in the COL3A1 gene (479dupT; <a href="#0034">120180.0034</a>). The patient's unaffected parents were each heterozygous for the mutation, suggesting autosomal recessive inheritance. The mutation was shown to result in nonsense-mediated decay. The lack of phenotype in the parents was discussed by <a href="#48" class="mim-tip-reference" title="Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K. <strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong> Europ. J. Hum. Genet. 17: 1411-1416, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19455184">Plancke et al. (2009)</a> in light of the study by <a href="#59" class="mim-tip-reference" title="Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H. <strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 69: 989-1001, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577371</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11577371[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/10.1086/324123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577371">Schwarze et al. (2001)</a>, who reported a severe phenotype resulting from COL3A1 haploinsufficiency due to truncating mutations. <a href="#48" class="mim-tip-reference" title="Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K. <strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong> Europ. J. Hum. Genet. 17: 1411-1416, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19455184">Plancke et al. (2009)</a> noted that heterozygous Col3a1-null mice have no phenotype (<a href="#33" class="mim-tip-reference" title="Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R. <strong>Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.</strong> Proc. Nat. Acad. Sci. 94: 1852-1856, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9050868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9050868</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9050868[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.5.1852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9050868">Liu et al., 1997</a>), similar to the parents of their French patient. <a href="#48" class="mim-tip-reference" title="Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K. <strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong> Europ. J. Hum. Genet. 17: 1411-1416, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19455184">Plancke et al. (2009)</a> also noted that the nonsense-mediated mRNA process is inefficient and, in the cases of <a href="#59" class="mim-tip-reference" title="Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H. <strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 69: 989-1001, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577371</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11577371[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/10.1086/324123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577371">Schwarze et al. (2001)</a>, could have resulted in the production of a small amount of protein with dominant-negative effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19455184+11577371+9050868" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs with PMGEDSV, <a href="#22" class="mim-tip-reference" title="Jorgensen, A., Fagerheim, T., Rand-Hendriksen, S., Lunde, P. I., Vorren, T. O., Pepin, M. G., Leistritz, D. F., Byers, P. H. <strong>Vascular Ehlers-Danlos syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.</strong> Europ. J. Hum. Genet. 23: 796-802, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25205403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25205403</a>] [<a href="https://doi.org/10.1038/ejhg.2014.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25205403">Jorgensen et al. (2015)</a> identified compound heterozygous mutations in the COL3A1 gene: a nonsense mutation (R596X; <a href="#0035">120180.0035</a>) and a substitution at a glycine residue (G1284E; <a href="#0036">120180.0036</a>). Patient fibroblasts showed a reduced amount of type III procollagen, the chains of which all had an abnormal electrophoretic mobility compared to controls, suggestive of overmodification of the protein possibly resulting from slow folding of the triple helical domain. Fibroblasts from the mother, who was heterozygous for the G1284E variant, showed a small amount of abnormal type III procollagen. The mother had subtle features of the disorder, including small joint hypermobility, aortic elasticity, emphysema, and thin, translucent skin. The father, who was heterozygous for the R596X variant, had no clinical features suggestive of EDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25205403" 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 3-year-old girl with PMGEDSV, <a href="#16" class="mim-tip-reference" title="Horn, D., Siebert, E., Seidel, U., Rost, I., Mayer, K., Abou Jamra, R., Mitter, D., Kornak, U. <strong>Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.</strong> Am. J. Med. Genet. 173A: 2534-2538, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28742248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28742248</a>] [<a href="https://doi.org/10.1002/ajmg.a.38345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28742248">Horn et al. (2017)</a> identified compound heterozygous loss-of-function mutations in the COL3A1 gene (<a href="#0037">120180.0037</a> and <a href="#0038">120180.0038</a>). Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to cause nonsense-mediated mRNA decay and an inability to contribute to a triple helix, consistent with a complete loss of function. Each unaffected parent was heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28742248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs with polymicrogyria without vascular-type Ehlers-Danlos syndrome (PMGEDSV; <a href="/entry/618343">618343</a>), who were born of unrelated parents from the same mountain village in Chechnya, <a href="#71" class="mim-tip-reference" title="Vandervore, L., Stouffs, K., Tanyalcin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jorgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H., Jansen, A. C. <strong>Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.</strong> J. Med. Genet. 54: 432-440, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28258187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28258187</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28258187">Vandervore et al. (2017)</a> identified a homozygous missense mutation in the COL3A1 gene (P49A; <a href="#0039">120180.0039</a>). The variant, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant is located in a von Willebrand factor C domain that may mediate interaction with GPR56 (<a href="/entry/604110">604110</a>) in the N terminus of the pro-COL3A1 chain; this region is usually cleaved from the intact type III collagen domain. Patient fibroblasts showed increased levels of COL3A1 mRNA, but normal amounts of the COL3A1 protein. Immunoprecipitation assays showed no significant differences in the COL3A1 interaction with GPR56, although there was a slight alteration of binding capacity. <a href="#71" class="mim-tip-reference" title="Vandervore, L., Stouffs, K., Tanyalcin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jorgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H., Jansen, A. C. <strong>Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.</strong> J. Med. Genet. 54: 432-440, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28258187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28258187</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28258187">Vandervore et al. (2017)</a> suggested that there may be tissue-specific effects of the mutation that may result in overstimulation of neuronal migration, or that the mutation may cause altered signaling patterns involved in pial basement membrane assembly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28258187" 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="#16" class="mim-tip-reference" title="Horn, D., Siebert, E., Seidel, U., Rost, I., Mayer, K., Abou Jamra, R., Mitter, D., Kornak, U. <strong>Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.</strong> Am. J. Med. Genet. 173A: 2534-2538, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28742248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28742248</a>] [<a href="https://doi.org/10.1002/ajmg.a.38345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28742248">Horn et al. (2017)</a> identified the same homozygous P49A mutation in 2 sibs, born of unrelated parents from Chechnya and Ingushetia, with polymicrogyria without vascular-type Ehlers-Danlos syndrome. Each unaffected parent was heterozygous for the mutation. Functional studies of the variant and studies of patient cells were not performed, but the variant was classified as pathogenic or likely pathogenic according to ACMG criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28742248" 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="genotypePhenotypeCorrelations" class="mim-anchor"></a>
|
|
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#59" class="mim-tip-reference" title="Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H. <strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 69: 989-1001, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577371</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11577371[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/10.1086/324123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577371">Schwarze et al. (2001)</a> studied 4 patients with EDS IV who presented with vascular aneurysm or rupture and were found to be haploinsufficient for a COL3A1 allele. They found 3 frameshift mutations that resulted in premature termination codons in exons 27, 6, and 9, and to allele-product instability. The fourth patient was found to have a termination point mutation in the final exon that resulted in a stable mRNA product but led to the synthesis of a truncated protein that was not incorporated into mature type III procollagen molecules. <a href="#59" class="mim-tip-reference" title="Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H. <strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 69: 989-1001, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577371</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11577371[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/10.1086/324123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577371">Schwarze et al. (2001)</a> noted that in contrast to the severe phenotype in these patients, mice that are haploinsufficient for COL3A1 have no identified phenotype and individuals with null mutations in the dominant protein of a tissue, i.e., COL1A1 and COL2A1, have milder phenotypes than those caused by mutations that alter protein sequence. <a href="#59" class="mim-tip-reference" title="Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H. <strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 69: 989-1001, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577371</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11577371[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/10.1086/324123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577371">Schwarze et al. (2001)</a> suggested that the major effect of many of these dominant mutations in the 'minor' collagen genes may be expressed through protein deficiency rather than through incorporation of structurally altered molecules into fibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11577371" 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="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>To study directly the role of COL3A1 in development and disease, <a href="#33" class="mim-tip-reference" title="Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R. <strong>Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.</strong> Proc. Nat. Acad. Sci. 94: 1852-1856, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9050868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9050868</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9050868[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.5.1852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9050868">Liu et al. (1997)</a> inactivated the murine Col3a1 gene in embryonic stem cells by homologous recombination. The mutated allele was transmitted through the mouse germline and homozygous mutant animals were derived from heterozygous intercrosses. Heterozygous mice were phenotypically normal. However, about 10% of the homozygous mutant animals survived to adulthood but had a much shorter life span compared with wildtype mice. The major cause of death in mutant mice was rupture of the major blood vessels, similar to patients with type IV Ehlers-Danlos syndrome. Ultrastructural analysis of tissues from mutant mice revealed that type III collagen is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9050868" 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="#20" class="mim-tip-reference" title="Jeong, S.-J., Li, S., Luo, R., Strokes, N., Piao, X. <strong>Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.</strong> PLoS One 7: e29767, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22235340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22235340</a>] [<a href="https://doi.org/10.1371/journal.pone.0029767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22235340">Jeong et al. (2012)</a> found that homozygous Col3a1-null mice had a cobblestone-like cortical malformation with breakdown of the pial basement membrane and marginal zone heterotopias. There was also neuronal overmigration and radial glial detachment. The defects started around embryonic day 11.5. The findings indicated an important role for collagen III in the developing brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22235340" 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>39 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/120180" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=120180[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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY790SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509369 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509369;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=rs397509369" 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=rs397509369" 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=RCV000018739" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018739" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018739</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type IV Ehlers-Danlos syndrome (EDSVASC; <a href="/entry/130050">130050</a>), <a href="#66" class="mim-tip-reference" title="Tromp, G., Kuivaniemi, H., Shikata, H., Prockop, D. J. <strong>A single base mutation that substitutes serine for glycine 790 of the alpha-1(III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.</strong> J. Biol. Chem. 264: 1349-1352, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2492273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2492273</a>]" pmid="2492273">Tromp et al. (1989)</a> found a heterozygous substitution of serine for glycine-790 in type III collagen. The mutation probably made the procollagen molecule unusually sensitive to proteases because it caused local unfolding of the triple helix and exposed the adjacent arginine residue. This patient had been thought to carry an amino acid insertion because of the slower migration of the pro-alpha chains of type III collagen (<a href="#62" class="mim-tip-reference" title="Stolle, C. A., Pyeritz, R. E., Myers, J. C., Prockop, D. J. <strong>Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome: a structural change in the alpha-1(III) chain which makes the protein more susceptible to proteinases.</strong> J. Biol. Chem. 260: 1937-1944, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2981879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2981879</a>]" pmid="2981879">Stolle et al., 1985</a>). The clinical features were reported by <a href="#51" class="mim-tip-reference" title="Pyeritz, R. E., Stolle, C. A., Parfrey, N. A., Myers, J. C. <strong>Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen.</strong> Am. J. Med. Genet. 19: 607-622, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6507506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6507506</a>] [<a href="https://doi.org/10.1002/ajmg.1320190328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6507506">Pyeritz et al. (1984)</a>; the 16-year-old man presented with a right neck mass that developed suddenly at age 14 after forceful spitting and was shown by angiography to be an aneurysm arising at the origin of the right subclavian. His father died after several operations for spontaneous massive intraabdominal hemorrhage. His aunt died of a rent in the abdominal aorta that occurred spontaneously in the first stage of labor. His uncle required colostomy after spontaneous rupture of the bowel and died several years later of spontaneous rupture of the splenic artery. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2492273+2981879+6507506" 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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY619ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113485686 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113485686;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=rs113485686" 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=rs113485686" 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=RCV000087507 OR RCV001093160 OR RCV002444435" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087507, RCV001093160, RCV002444435" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087507...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 37-year-old female captain in the U. S. Air Force who was studied because several relatives had died of ruptured aortic aneurysms (see EDSVASC; <a href="/entry/130050">130050</a>), <a href="#24" class="mim-tip-reference" title="Kontusaari, S., Tromp, G., Kuivaniemi, H., Romanic, A. M., Prockop, D. J. <strong>A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.</strong> J. Clin. Invest. 86: 1465-1473, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243125</a>] [<a href="https://doi.org/10.1172/JCI114863" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2243125">Kontusaari et al. (1990)</a> found heterozygosity for a single base mutation that converted the codon for glycine-619 in type III procollagen to arginine. The collagen produced had decreased temperature for thermal unfolding. The same mutation was found in DNA extracted from pathologic specimens from her mother, who had died at the age of 34 of aortic aneurysm, and a maternal aunt, who died at the age of 55 of the same cause. DNA from samples of saliva showed that the woman's daughter, son, brother, and an aunt also had the mutation. <a href="#28" class="mim-tip-reference" title="Kuivaniemi, H., Tromp, G., Prockop, D. J. <strong>Genetic causes of aortic aneurysms: unlearning at least part of what the textbooks say.</strong> J. Clin. Invest. 88: 1441-1444, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1939638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1939638</a>] [<a href="https://doi.org/10.1172/JCI115452" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1939638">Kuivaniemi et al. (1991)</a> described the same family in brief. The proband had a tendency to bruise easily, and the surgeon who had previously removed her appendix noted that her tissues seemed friable and bled easily, with the loss of 1 liter of blood during that operation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1939638+2243125" 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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY883ASP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912914 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912914;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=rs121912914" 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=rs121912914" 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=RCV000018741" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018741" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018741</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a father and daughter with Ehlers-Danlos syndrome type IV (EDSVASC; <a href="/entry/130050">130050</a>), <a href="#67" class="mim-tip-reference" title="Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F. M., Prockop, D. J. <strong>Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.</strong> J. Biol. Chem. 264: 19313-19317, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2808425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2808425</a>]" pmid="2808425">Tromp et al. (1989)</a> identified a G-to-A transition in the COL3A1 gene, resulting in a gly883-to-asp (G883D) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2808425" 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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS20DS, 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">rs397509370 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509370;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=rs397509370" 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=rs397509370" 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=RCV000087697 OR RCV001184539 OR RCV001753421 OR RCV004532389" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087697, RCV001184539, RCV001753421, RCV004532389" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087697...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old man with a history of thin skin and easy bruisability, who died of massive intrathoracic and intraabdominal hemorrhage (see EDSVASC; <a href="/entry/130050">130050</a>), <a href="#23" class="mim-tip-reference" title="Kontusaari, S., Tromp, G., Kuivaniemi, H., Ladda, R. L., Prockop, D. J. <strong>Inheritance of an RNA splicing mutation (G(+1) IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 47: 112-120, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349939</a>]" pmid="2349939">Kontusaari et al. (1990)</a> identified heterozygosity for a substitution of A for G at the first nucleotide of intron 20 in the COL3A1 gene. As a result, the consensus sequence of GT found in most of the introns of eukaryotic genes was converted to AT. At autopsy, no distinct aneurysm or bleeding point was identified, but microscopic sections of aorta revealed an apparent decrease in and disorganization of elastic fibers, and all the abdominal soft tissues appeared to be unusually friable. The proband's father and 1 brother had died of rupture of abdominal and thoracic aneurysms, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2349939" 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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS16DS, 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">rs587779443 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587779443;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=rs587779443" 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=rs587779443" 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=RCV000018743" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018743" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018743</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type IV EDS (EDSVASC; <a href="/entry/130050">130050</a>), <a href="#27" class="mim-tip-reference" title="Kuivaniemi, H., Kontusaari, S., Tromp, G., Zhao, M., Sabol, C., Prockop, D. J. <strong>Identical G(+1)-to-A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos Syndrome IV: an explanation for exon skipping with some mutations and not others.</strong> J. Biol. Chem. 265: 12067-12074, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365710</a>]" pmid="2365710">Kuivaniemi et al. (1990)</a> found a G(+1)-to-A mutation in intron 16, which caused extensive exon skipping. The patient was a 36-year-old pregnant woman who had thin skin with abnormally prominent superficial blood vessels. She had a minimal degree of joint hypermobility and a history of 2 surgical procedures for correction of patellar dislocations. Cesarean section was performed because of premature ruptured membranes. The infant developed severe bleeding and died 4 hours later. The patient's tissues appeared to be unusually friable at surgery. The only other affected relative was a brother who died at the age of 20 of a ruptured cervical artery sustained during karate practice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365710" 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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS42DS, 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">rs869312034 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312034;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=rs869312034" 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=rs869312034" 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=RCV000018744" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018744" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018744</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#27" class="mim-tip-reference" title="Kuivaniemi, H., Kontusaari, S., Tromp, G., Zhao, M., Sabol, C., Prockop, D. J. <strong>Identical G(+1)-to-A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos Syndrome IV: an explanation for exon skipping with some mutations and not others.</strong> J. Biol. Chem. 265: 12067-12074, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365710</a>]" pmid="2365710">Kuivaniemi et al. (1990)</a> found that a G-to-A mutation at the first nucleotide in intron 42 caused deficient use of a single cryptic splice site. The patient was a 22-year-old woman who died suddenly from a ruptured dissecting aortic aneurysm. She had thin and transparent skin with abnormally prominent blood vessels. She had mild hypermobility of the joints, congenital dislocation of the hips, and a torn knee ligament. She had a history of bouts of abdominal pain and urinary tract infections as well as pyloric stenosis in infancy. There was no evidence of EDS in other members of the family, including an 11-month-old daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365710" 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 COLLAGEN TYPE III POLYMORPHISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, ALA531THR
|
|
</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> rs1800255 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800255;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/rs1800255?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=rs1800255" 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=rs1800255" 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=RCV000018745 OR RCV000177438 OR RCV000395000 OR RCV000775991 OR RCV001588818 OR RCV001811188 OR RCV002276559 OR RCV002496406" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018745, RCV000177438, RCV000395000, RCV000775991, RCV001588818, RCV001811188, RCV002276559, RCV002496406" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018745...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#73" class="mim-tip-reference" title="Zafarullah, K., Kleinert, C., Tromp, G., Kuivaniemi, H., Kontusaari, S., Wu, Y., Ganguly, A., Prockop, D. J. <strong>G to A polymorphism in exon 31 of the COL3A1 gene.</strong> Nucleic Acids Res. 18: 6180, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2235526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2235526</a>] [<a href="https://doi.org/10.1093/nar/18.20.6180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2235526">Zafarullah et al. (1990)</a> demonstrated a change from GCT (ala) to ACT (thr) in the codon for amino acid 531 of the triple helix. On the basis of a study of 122 chromosomes, the frequency of the alanine allele was 0.68. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2235526" 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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS37DS, G-T, +5
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509371 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509371;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=rs397509371" 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=rs397509371" 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=RCV000018746" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018746" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018746</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#72" class="mim-tip-reference" title="Wu, Y., Kuivaniemi, H., Tromp, G., Strobel, D., Romanic, A. M., Prockop, D. J. <strong>Temperature sensitivity of aberrant RNA splicing with a mutation in the G(+5) position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.</strong> Hum. Mutat. 2: 28-36, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8477261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8477261</a>] [<a href="https://doi.org/10.1002/humu.1380020106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8477261">Wu et al. (1993)</a> identified a G-to-T transversion at the fifth nucleotide of intron 37 of the COL3A1 gene from a woman with EDS4 (EDSVASC; <a href="/entry/130050">130050</a>) who had died suddenly of rupture of a thoracic aorta in the age of 47. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8477261" 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 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, 7.5-KB DEL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018747" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018747" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018747</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with severe EDS IV (EDSVASC; <a href="/entry/130050">130050</a>), <a href="#63" class="mim-tip-reference" title="Superti-Furga, A., Gugler, E., Gitzelmann, R., Steinmann, B. <strong>Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.</strong> J. Biol. Chem. 263: 6226-6232, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2834369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2834369</a>]" pmid="2834369">Superti-Furga et al. (1988)</a> showed that fibroblasts synthesized normal-sized and shortened type III procollagen chains. Comparison of the triple-helical domains of these 2 peptides and coarse Southern blot analysis of the patient's DNA suggested a large deletion in the middle portion of the COL3A1 gene. <a href="#30" class="mim-tip-reference" title="Lee, B., D'Alessio, M., Vissing, H., Ramirez, F., Steinmann, B., Superti-Furga, A. <strong>Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 48: 511-517, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998337</a>]" pmid="1998337">Lee et al. (1991)</a> showed that the structural defect resulted from exon-to-intron recombination that deleted 16 exons of the triple-helical coding domain of COL3A1, removing about 7.5 kb and 1,026 nucleotides of coding sequence from the message. The deleted segment extended from the thirteenth nucleotide of exon 9 to within a DNA sequence of intron 24, which is composed of a series of dinucleotide repeats. Using PCR, <a href="#30" class="mim-tip-reference" title="Lee, B., D'Alessio, M., Vissing, H., Ramirez, F., Steinmann, B., Superti-Furga, A. <strong>Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 48: 511-517, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998337</a>]" pmid="1998337">Lee et al. (1991)</a> tested the polymorphic nature of this dinucleotide repeat. At least 4 distinct allelic forms were found. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2834369+1998337" 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="0010" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY910VAL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912915 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912915;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=rs121912915" 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=rs121912915" 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=RCV000018749" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018749" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018749</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#53" class="mim-tip-reference" title="Richards, A. J., Lloyd, J. C., Ward, P. N., De Paepe, A., Narcisi, P., Pope, F. M. <strong>Characterization of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.</strong> J. Med. Genet. 28: 458-463, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1895316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1895316</a>] [<a href="https://doi.org/10.1136/jmg.28.7.458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1895316">Richards et al. (1991)</a> found a G-to-T mutation in the COL3A1 gene, resulting in a substitution of glycine-910 by valine. <a href="#44" class="mim-tip-reference" title="Nuytinck, L., Narcisi, P., Nicholls, A., Renard, J. P., Pope, F. M., De Paepe, A. <strong>Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.</strong> J. Med. Genet. 29: 375-380, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619632</a>] [<a href="https://doi.org/10.1136/jmg.29.6.375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1619632">Nuytinck et al. (1992)</a> described the patient and laboratory findings in detail. A 54-year-old woman had a lifetime history of easy bruising and recurrent bleeding and hematomas. She had varicose veins of the legs and attacks of superficial phlebitis. On 3 occasions her right shoulder had dislocated spontaneously. Family history was negative. She was only 149 cm tall and had facial features strongly suggestive of EDS IV (EDSVASC; <a href="/entry/130050">130050</a>), including prominent eyes with bluish sclerae, a pinched nose, and hypoplastic earlobes. The skin was generally thin and showed a prominent venous pattern but was not hyperextensible. The knees and shins showed atrophic scars and hemosiderin deposits at the sites of old hematomas. There was hyperextensibility of large joints, especially the elbows and knees, but mobility of small joints was within normal limits. At the age of 54 years she developed a perforation of the sigmoid colon for which a sigmoidectomy was performed. The patient's skin fibroblasts produced markedly diminished amounts of type III collagen. Cells obtained from noncutaneous tissues showed 2 forms of type III chains, one normal and one slow migrating. The type III collagen molecules containing mutant alpha chains were overmodified, had a lower thermal stability, and were poorly secreted into the extracellular medium. <a href="#44" class="mim-tip-reference" title="Nuytinck, L., Narcisi, P., Nicholls, A., Renard, J. P., Pope, F. M., De Paepe, A. <strong>Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.</strong> J. Med. Genet. 29: 375-380, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619632</a>] [<a href="https://doi.org/10.1136/jmg.29.6.375" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1619632">Nuytinck et al. (1992)</a> pointed out that the mutant molecules were preferentially retained within cultured cells, presumably destined for degradation. By reducing the incubation temperature of the cells, the secretion of type III collagen was increased considerably. For this reason, cooler superficial tissues, such as skin, may be less dramatically affected than internal organs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1619632+1895316" 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="0011" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS25DS, G-T, +5
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509372 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509372;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=rs397509372" 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=rs397509372" 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=RCV000018752" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018752" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018752</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of EDS IV (EDSVASC; <a href="/entry/130050">130050</a>), <a href="#31" class="mim-tip-reference" title="Lee, B., Vitale, E., Superti-Furga, A., Steinmann, B., Ramirez, F. <strong>G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.</strong> J. Biol. Chem. 266: 5256-5259, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1672129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1672129</a>]" pmid="1672129">Lee et al. (1991)</a> demonstrated a G-to-T transversion at position 5 of the splice donor site of intron 25 in one of the patient's COL3A1 genes. The splicing mutation resulted in skipping of exon 25. As in previously characterized splicing mutations in other collagen genes, lowering the temperature at which the patient's fibroblasts were incubated nearly abolished exon skipping. The mutation was first localized by amplifying the reverse transcribed product in several overlapping fragments by use of PCR. Amplified products spanning exon 24-26 sequences displayed 2 distinct fragments, one of normal size and the other lacking the 99 basepairs of exon 25. As part of the study, <a href="#30" class="mim-tip-reference" title="Lee, B., D'Alessio, M., Vissing, H., Ramirez, F., Steinmann, B., Superti-Furga, A. <strong>Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 48: 511-517, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998337</a>]" pmid="1998337">Lee et al. (1991)</a> identified a highly polymorphic, intronic DNA sequence whose different allelic forms could be easily detected by the PCR technique. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1998337+1672129" 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>The patient studied by <a href="#30" class="mim-tip-reference" title="Lee, B., D'Alessio, M., Vissing, H., Ramirez, F., Steinmann, B., Superti-Furga, A. <strong>Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 48: 511-517, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998337</a>]" pmid="1998337">Lee et al. (1991)</a> had suffered since boyhood from easy bruising and episodes of hemorrhage occurring spontaneously or after trivial trauma. Physical examination at age 31 years showed thin, delicate skin with hemosiderotic, atrophic scars as well as paradoxically striking keloids. Superficial veins were easily visible and flexion contractures of the thumb and third finger of the right hand were found. He also had partial right bundle branch block and pulmonary stenosis (confirmed by angiography at age 19 years). He died at age 32 after falling from a bar stool. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1998337" 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="0012" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS41, 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">rs397509373 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509373;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=rs397509373" 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=rs397509373" 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=RCV000018753" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018753" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018753</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#60" class="mim-tip-reference" title="Sillence, D. O., Chiodo, A. A., Campbell, P. E., Cole, W. G. <strong>Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.</strong> J. Med. Genet. 28: 840-845, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1757960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1757960</a>] [<a href="https://doi.org/10.1136/jmg.28.12.840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1757960">Sillence et al. (1991)</a> described the clinical features in a patient with EDS IV (EDSVASC; <a href="/entry/130050">130050</a>) in whom <a href="#5" class="mim-tip-reference" title="Cole, W. G., Chiodo, A. A., Lamande, S. R., Janeczko, R., Ramirez, F., Dahl, H.-H. M., Chan, D., Bateman, J. F. <strong>A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.</strong> J. Biol. Chem. 265: 17070-17077, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2145268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2145268</a>]" pmid="2145268">Cole et al. (1990)</a> found heterozygosity for a G-to-A transition at the splice donor site of intron 41. The mutation resulted in the splicing out of exon 41, which encoded 36 amino acids from glycine-775 to lysine-810 of the triple helical domain of type III collagen. The amount of type III collagen in the dermis was only about 11% of normal. The patient had typical features of the acrogeric form of EDS IV: characteristic facies with pinched nose and thin lips, aesthenic build, thin skin, prominent subcutaneous veins, and senile-appearing hands. Spontaneous bruising, bleeding from the large bowel, constipation, and delayed gastric emptying were other features. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1757960+2145268" 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="0013" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, 27-BP DEL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509374 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509374;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=rs397509374" 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=rs397509374" 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=RCV000018754" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018754" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018754</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#35" class="mim-tip-reference" title="Matton, M. T., De Paepe, A., De Keyser, F., Francois, B. <strong>Unusual familial manifestation of Ehlers-Danlos syndrome. In: Papadatos, C. J.; Bartsocas, C. H. S.: Skeletal Dysplasias.</strong> New York: Alan R. Liss (pub.) 1982. Pp. 243-257."None>Matton et al. (1982)</a> described a large Belgian family with EDS IV (EDSVASC; <a href="/entry/130050">130050</a>) in which <a href="#43" class="mim-tip-reference" title="Nicholls, A. C., De Paepe, A., Narcisi, P., Dalgleish, R., De Keyser, F., Matton, M., Pope, F. M. <strong>Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.</strong> Hum. Genet. 78: 276-281, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162228</a>] [<a href="https://doi.org/10.1007/BF00291676" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3162228">Nicholls et al. (1988)</a> showed that the abnormal phenotype was linked to an AvaII polymorphism in the COL3A1. In contrast to most EDS IV patients, fibroblasts from affected members of this family secreted nearly normal amounts of an apparently normal collagen. Although the level of type III collagen secreted was slightly lower than that secreted by control cell lines, the level of COL3A1 mRNA was normal. <a href="#52" class="mim-tip-reference" title="Richards, A. J., Lloyd, J. C., Narcisi, P., Ward, P. N., Nicholls, A. C., De Paepe, A., Pope, F. M. <strong>A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.</strong> Hum. Genet. 88: 325-330, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1370809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1370809</a>] [<a href="https://doi.org/10.1007/BF00197268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1370809">Richards et al. (1992)</a> localized the mutation in this family to the CB5 peptide of type III collagen by use of both protein and cDNA mapping techniques. Sequence analysis of cDNA demonstrated a 27-bp deletion within exon 37, removing 9 amino acids and maintaining the Gly-X-Y repeat of the collagen helix. Further studies showed that the deletion was present in all affected members and absent in all unaffected members of the kindred. The deletion was flanked by 2 short direct repeats of CTCC; it appeared to have arisen by slipped mispairing. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3162228+1370809" 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="0014" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY847GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912916 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912916;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=rs121912916" 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=rs121912916" 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=RCV000018755" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018755" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018755</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members of the family of the patient with spontaneous carotid-cavernous fistula reported by <a href="#10" class="mim-tip-reference" title="Fox, R., Pope, F. M., Narcisi, P., Nicholls, A. C., Kendall, B. E., Hourihan, M. D., Compston, D. A. S. <strong>Spontaneous carotid cavernous fistula in Ehlers-Danlos syndrome.</strong> J. Neurol. Neurosurg. Psychiat. 51: 984-986, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3204406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3204406</a>] [<a href="https://doi.org/10.1136/jnnp.51.7.984" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3204406">Fox et al. (1988)</a>, <a href="#54" class="mim-tip-reference" title="Richards, A. J., Ward, P. N., Narcisi, P., Nicholls, A. C., Lloyd, J. C., Pope, F. M. <strong>A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV: an unaffected family member is mosaic for the mutation.</strong> Hum. Genet. 89: 414-418, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352273</a>] [<a href="https://doi.org/10.1007/BF00194313" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1352273">Richards et al. (1992)</a> demonstrated a G-to-A mutation converting glycine-847 to glutamic acid. The spontaneous carotid-cavernous fistula was successfully embolized and occluded. The mother and only sib had thin skin and joint laxity. The mother died at the age of 50 years from postoperative complications following ruptured bowel. <a href="#52" class="mim-tip-reference" title="Richards, A. J., Lloyd, J. C., Narcisi, P., Ward, P. N., Nicholls, A. C., De Paepe, A., Pope, F. M. <strong>A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.</strong> Hum. Genet. 88: 325-330, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1370809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1370809</a>] [<a href="https://doi.org/10.1007/BF00197268" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1370809">Richards et al. (1992)</a> showed that the mutation must have arisen during embryogenesis of the proband's maternal grandmother who was clinically unaffected but mosaic for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1352273+3204406+1370809" 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="0015" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY1018ASP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912917 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912917;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=rs121912917" 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=rs121912917" 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=RCV000018756 OR RCV000434900" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018756, RCV000434900" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018756...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 41-year-old woman with arterial ruptures and skin changes characteristic of type IV Ehlers-Danlos syndrome (EDSVASC; <a href="/entry/130050">130050</a>), <a href="#25" class="mim-tip-reference" title="Kontusaari, S., Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F. M., Prockop, D. J. <strong>Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.</strong> Am. J. Hum. Genet. 51: 497-507, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1496983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1496983</a>]" pmid="1496983">Kontusaari et al. (1992)</a> found a single base substitution in the COL3A1 gene which converted the codon for glycine at amino acid position 1018 to a codon for aspartate. (Amino acid positions were numbered by the convention in which the first glycine of the triple-helical domain of an alpha chain is numbered 1. The number of positions in the mature collagen chain can be converted to positions in the procollagen chain by adding 167.) The glycine mutation markedly decreased the amount of type III procollagen secreted into the medium by cultured skin fibroblasts. The same mutation was found in about 94% of peripheral blood leukocytes of the proband's asymptomatic 72-year-old mother. The mutation was present in 0.0-100% of different samples of hair cells and in about 40% of cells from the oral epithelium. Since the mutated allele was present in cells derived from all 3 germ layers, the results indicated that the mutation arose by the late blastocyst stage of development. The proband had been born prematurely without obvious cause. Her case was reported by <a href="#39" class="mim-tip-reference" title="Morris, D. <strong>Acrogeria.</strong> J. Roy. Soc. Med. 50: 330-331, 1957."None>Morris (1957)</a> as one of acrogeria; her hands and feet were described as 'emaciated and fleshless with the veins showing through the thin and wrinkled skin.' At the age of 24 years, she had spontaneous rupture of the splenic artery. Two years later she developed recurrent pneumothoraces. At age 28 she had a perinephric hematoma requiring left nephrectomy for control of bleeding. At age 39 a large spontaneous hematoma in her left thigh was thought to represent a venous rupture. The mother had no history of easy bruisability or hemorrhaging and her skin was normal on examination by <a href="#39" class="mim-tip-reference" title="Morris, D. <strong>Acrogeria.</strong> J. Roy. Soc. Med. 50: 330-331, 1957."None>Morris (1957)</a> and by one of the authors (F.M.P.) in the <a href="#25" class="mim-tip-reference" title="Kontusaari, S., Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F. M., Prockop, D. J. <strong>Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.</strong> Am. J. Hum. Genet. 51: 497-507, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1496983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1496983</a>]" pmid="1496983">Kontusaari et al. (1992)</a> report (<a href="#49" class="mim-tip-reference" title="Pope, F. M., Nicholls, A. C., Jones, P. M., Wells, R. S., Lawrence, D. <strong>EDS IV (acrogeria): new autosomal dominant and recessive types.</strong> J. Roy. Soc. Med. 73: 180-186, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7230200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7230200</a>]" pmid="7230200">Pope et al., 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1496983+7230200" 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="0016" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY1006GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912918 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912918;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=rs121912918" 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=rs121912918" 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=RCV000018757" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018757" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018757</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using denaturing gradient gel electrophoresis (DGGE), <a href="#21" class="mim-tip-reference" title="Johnson, P. H., Richards, A. J., Pope, F. M., Hopkinson, D. A. <strong>A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.</strong> J. Inherit. Metab. Dis. 15: 426-430, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357232</a>] [<a href="https://doi.org/10.1007/BF02435995" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1357232">Johnson et al. (1992)</a> identified heterozygosity for a GGA-to-GAA transition in codon 1006 creating a new HinfI restriction site and substitution of glutamic acid for glycine at residue 1006 of the COL3A1 chain. The patient had typical acrogeric EDS IV (EDSVASC; <a href="/entry/130050">130050</a>) and had been reported by <a href="#55" class="mim-tip-reference" title="Roberts, D. L. L., Pope, F. M., Nicholls, A. C., Narcisi, P. <strong>Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.</strong> Brit. J. Derm. 111: 341-345, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6477831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6477831</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1984.tb04733.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6477831">Roberts et al. (1984)</a> as mimicking nonaccidental injury, i.e., child abuse. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6477831+1357232" 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="0017" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY1021GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs112456072 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs112456072;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=rs112456072" 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=rs112456072" 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=RCV000018758" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018758" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018758</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#42" class="mim-tip-reference" title="Narcisi, P., Wu, Y., Tromp, G., Earley, J. J., Richards, A. J., Pope, F. M., Kuivaniemi, H. <strong>Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.</strong> Am. J. Med. Genet. 46: 278-283, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8098182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8098182</a>] [<a href="https://doi.org/10.1002/ajmg.1320460308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8098182">Narcisi et al. (1993)</a> described a 24-year-old woman with type IV Ehlers-Danlos syndrome (EDSVASC; <a href="/entry/130050">130050</a>) and sudden death due to 'massive' aortic dissection arising about 0.5 cm above the aortic ring and extending to the aortic bifurcation. The aneurysm had ruptured through the left lateral wall of the abdominal aorta, producing a large retroperitoneal hemorrhage. The presence of atrophy of all finger pulps with acroosteolysis and loss of the first and second fingernails on the left hand were commented on. <a href="#42" class="mim-tip-reference" title="Narcisi, P., Wu, Y., Tromp, G., Earley, J. J., Richards, A. J., Pope, F. M., Kuivaniemi, H. <strong>Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.</strong> Am. J. Med. Genet. 46: 278-283, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8098182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8098182</a>] [<a href="https://doi.org/10.1002/ajmg.1320460308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8098182">Narcisi et al. (1993)</a> found a single base mutation in exon 49 of the COL3A1 gene which caused a gly-to-glu substitution at amino acid residue 1021. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8098182" 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="#46" class="mim-tip-reference" title="Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H. <strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong> New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>] [<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706896">Pepin et al. (2000)</a> found the G1021E mutation in 2 of 135 unrelated EDS IV families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" 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="0018" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY136ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906557;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=rs387906557" 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=rs387906557" 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=RCV000018759" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018759" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018759</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large study involving sequencing of cDNA for the triple-helical domain of type III procollagen in 54 patients with aortic aneurysms, <a href="#68" class="mim-tip-reference" title="Tromp, G., Wu, Y., Prockop, D. J., Madhatheri, S. L., Kleinert, C., Earley, J. J., Zhuang, J., Norrgard, O., Darling, R. C., Abbott, W. M., Cole, C. W., Jaakkola, P., Ryynanen, M., Pearce, W. H., Yao, J. S. T., Majamaa, K., Smullens, S. N., Gatalica, Z., Ferrell, R. E., Jimenez, S. A., Jackson, C. E., Michels, V. V., Kaye, M., Kuivaniemi, H. <strong>Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.</strong> J. Clin. Invest. 91: 2539-2545, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8514866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8514866</a>] [<a href="https://doi.org/10.1172/JCI116490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8514866">Tromp et al. (1993)</a> found only one with a mutation of likely functional significance: a substitution of arginine for an obligatory glycine at amino acid position 136. The nucleotide change was a transition from GGG to AGG at position 907. The patient was an 18-year-old black male without any prior relevant medical history. He had suddenly developed paraparesis and bilateral loss of pulses below the waist (<a href="#11" class="mim-tip-reference" title="Gatalica, Z., Gibas, Z., Martinez-Hernandez, A. <strong>Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia.</strong> Hum. Path. 23: 586-588, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1568754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1568754</a>] [<a href="https://doi.org/10.1016/0046-8177(92)90138-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1568754">Gatalica et al., 1992</a>). An aortogram disclosed a dissecting aneurysm of the entire aorta and obstruction of blood flow below the renal arteries. Autopsy demonstrated the dissecting aneurysm and generalized fibromuscular dysplasia (<a href="/entry/135580">135580</a>). His father had died at the age of 36 years in a car accident and no affected relatives were available for DNA testing. His mother did not have the mutation, but 3 unaffected sibs were found to have the same mutation. Ultrasound examination of the aorta in these sibs, aged 21, 20, and 16 years, did not reveal any abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8514866+1568754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Byers, P. H. <strong>Personal Communication.</strong> Seattle, Wash. 12/16/1998."None>Byers (1998)</a> was of the opinion that the patient with the G136R mutation in COL3A1 actually represented an example of EDS type IV (EDSVASC; <a href="/entry/130050">130050</a>). <a href="#56" class="mim-tip-reference" title="Schievink, W. I., Limburg, M. <strong>Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. (Letter)</strong> Neurosurgery 25: 482-483, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2771024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2771024</a>] [<a href="https://doi.org/10.1097/00006123-198909000-00033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2771024">Schievink and Limburg (1989)</a> described a 46-year-old woman with Ehlers-Danlos syndrome type IV who suffered an aneurysmal subarachnoid hemorrhage. Angiographic abnormalities in the carotid arteries resembling fibromuscular dysplasia were described. In an angiographic study of the cervical arteries in 102 patients with aneurysmal subarachnoid hemorrhage, <a href="#12" class="mim-tip-reference" title="George, B., Mourier, K. L., Gelbert, F., Reizine, D., Raggueneau, J. L. <strong>Vascular abnormalities in the neck associated with intracranial aneurysms.</strong> Neurosurgery 24: 499-508, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2710295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2710295</a>] [<a href="https://doi.org/10.1227/00006123-198904000-00003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2710295">George et al. (1989)</a> found arterial wall irregularities consistent with fibromuscular dysplasia in 29 patients, coiling or kinking in 21 patients, and a combination of both angiographic abnormalities in an additional 7 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2710295+2771024" 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="0019" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS7DS, T-C, +6
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509375 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509375;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=rs397509375" 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=rs397509375" 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=RCV000018760" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018760" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018760</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 32-year-old woman with type IV EDS (EDSVASC; <a href="/entry/130050">130050</a>), <a href="#34" class="mim-tip-reference" title="Lloyd, J., Narcisi, P., Richards, A., Pope, F. M. <strong>A T(+6) to C(+6) mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.</strong> J. Med. Genet. 30: 376-380, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8320698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8320698</a>] [<a href="https://doi.org/10.1136/jmg.30.5.376" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8320698">Lloyd et al. (1993)</a> identified a T-to-C transition at nucleotide +6 in the donor splice site of IVS7 of the COL3A1 gene. This resulted in skipping of exon 7, which is the most 5-prime of the completely triple helix encoding exons, since exon 6 of the COL3A1 gene codes partially for the N-peptidase cleavage site and the first 9 amino acids of the triple helix. The patient, who suffered from a de novo mutation, was classified as having a nonacrogeric form of this disorder. She came to medical attention because of infection of the right kidney and intermittent claudication of the left leg. Angiography showed occlusion of the right renal artery and stenosis of the left iliac artery with possible dissection. Four years previously she suffered perforation of the bowel and had varicose veins since her teens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8320698" 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="0020" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY637SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912920 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912920;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=rs121912920" 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=rs121912920" 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=RCV000018761" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018761" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018761</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#41" class="mim-tip-reference" title="Narcisi, P., Richards, A. J., Ferguson, S. D., Pope, F. M. <strong>A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen.</strong> Hum. Molec. Genet. 3: 1617-1620, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833919</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1617" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833919">Narcisi et al. (1994)</a> described a family in which the proband was a 4-year-old boy with generalized joint laxity and minor skin extensibility without scarring. Four other members of the family were affected: his 36-year-old father, a younger brother, a 39-year-old paternal uncle, and the 64-year-old paternal grandmother. The disorder in the family was diagnosed as EDS III (<a href="/entry/130020">130020</a>)/articular hypermobility syndrome (<a href="/entry/147900">147900</a>); the latter is not clearly distinguished from EDS III. Analysis of cultured fibroblasts from the affected members demonstrated intracellular retention of type III collagen. This is usually a biochemical characteristic of EDS IV (<a href="/entry/130050">130050</a>), caused by mutations of COL3A1. Analysis of the cDNA sequence in this family revealed a glycine-to-serine mutation at amino acid residue 637 of the type III collagen molecule. This was confirmed by allele-specific oligonucleotide hybridization against amplified genomic DNA. There was no history of vascular fragility in the family and there were no other clinical signs usually associated with EDS IV such as thin skin and characteristic facial features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7833919" 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="0021" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS27DS, G-A, +5
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509376 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509376;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=rs397509376" 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=rs397509376" 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=RCV000018762" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018762" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018762</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#64" class="mim-tip-reference" title="Thakker-Varia, S., Anderson, D. W., Kuivaniemi, H., Tromp, G., Shin, H.-G., van der Rest, M., Glorieux, F. H., Ala-Kokko, L., Stolle, C. A. <strong>Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.</strong> Hum. Mutat. 6: 116-125, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581395</a>] [<a href="https://doi.org/10.1002/humu.1380060204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581395">Thakker-Varia et al. (1995)</a> identified a unique mutation in the COL3A1 gene in a 22-year-old woman who was the only 1 of 5 sibs affected by type IV EDS (EDSVASC; <a href="/entry/130050">130050</a>). Her mother died at age 35 from a massive abdominal hemorrhage after a minor car accident and was probably affected. During delivery of a seemingly unaffected daughter, the proband experienced protracted bleeding and significant tear damage of the pelvic tissues. The skin was soft and hyperextensible around the elbows, but not on the upper thorax, where it was thin and translucent. No evident joint hypermobility was noted, while marked, diffuse bruising and pigmented scars were present. The facies was characteristic, with a thin nose, thin lips, and fine wrinkles around the mouth. The patient's fibroblasts produced decreased amounts of type III procollagen despite normal levels of translatable type III procollagen mRNA. S1 nuclease analysis of the type III procollagen mRNA indicated a defect in the region encoding exon 27. Sequence analysis of cDNA clones and genomic fragments generated by PCR amplification demonstrated that sequences representing exon 27 were absent from 3 out of 5 cDNA clones and that a G at the +5 position of the splice donor site in intron 27 was changed to an A in 1 allele of their patient's COLA3A1 gene. <a href="#64" class="mim-tip-reference" title="Thakker-Varia, S., Anderson, D. W., Kuivaniemi, H., Tromp, G., Shin, H.-G., van der Rest, M., Glorieux, F. H., Ala-Kokko, L., Stolle, C. A. <strong>Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.</strong> Hum. Mutat. 6: 116-125, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581395</a>] [<a href="https://doi.org/10.1002/humu.1380060204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581395">Thakker-Varia et al. (1995)</a> could demonstrate that mRNA species containing and lacking exon 27 were produced in a 1:1 ratio. However, pulse label and chase experiments in the presence or absence of brefeldin A indicated that most of the type III procollagen molecules synthesized by the patient's fibroblasts were not secreted into the medium but were degraded in the endoplasmic reticulum-Golgi compartment by a nonlysosomal mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581395" 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="0022" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY499ASP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912921 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912921;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=rs121912921" 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=rs121912921" 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=RCV000018763" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018763" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018763</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#36" class="mim-tip-reference" title="McGrory, J., Costa, T., Cole, W. G. <strong>A novel G499D substitution in the alpha-1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.</strong> Hum. Mutat. 7: 59-60, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664902</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<59::AID-HUMU8>3.0.CO;2-K" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8664902">McGrory et al. (1996)</a> found heterozygosity for a G-to-A transition at nucleotide 1997, resulting in a G499D substitution in type III collagen in a 48-year-old man with the acrogeric form of type IV EDS (EDSVASC; <a href="/entry/130050">130050</a>). The patient had been reported by <a href="#50" class="mim-tip-reference" title="Pope, F. M., Nicholls, A. C., Narcisi, P., Temple, A., Chia, Y., Fryer, P., De Paepe, A., De Groote, W. P., McEwan, J. R., Compston, D. A., Oorthuys, H., Davies, J., Dinwoodie, D. L. <strong>Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders.</strong> Clin. Exp. Derm. 13: 285-302, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3076851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3076851</a>] [<a href="https://doi.org/10.1111/j.1365-2230.1988.tb00709.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3076851">Pope et al. (1988)</a>. The age of onset of his acrogeric appearance was uncertain, but with increasing age it had become more severe. At 49 years of age, he died from massive pulmonary emboli and acute myocardial infarction. The man had only 1 son who was clinically normal at 15 years of age. However, he showed heterozygosity for the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8664902+3076851" 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="#46" class="mim-tip-reference" title="Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H. <strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong> New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>] [<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706896">Pepin et al. (2000)</a> found the G499D mutation in 2 of 135 unrelated EDS IV families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" 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="0023" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY793VAL
|
|
</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> rs121912922 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912922;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/rs121912922?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=rs121912922" 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=rs121912922" 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=RCV000018764" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018764" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018764</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#65" class="mim-tip-reference" title="Tromp, G., De Paepe, A., Nuytinck, L., Madhatheri, S., Kuivaniemi, H. <strong>Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.</strong> Hum. Mutat. 5: 179-181, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7749417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7749417</a>] [<a href="https://doi.org/10.1002/humu.1380050213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7749417">Tromp et al. (1995)</a> found a G-to-T transition at position 2879 (exon 41) in the COL3A1 gene that changed the codon for glycine-793 to a codon for valine in a mother and her son with Ehlers-Danlos syndrome type IV (EDSVASC; <a href="/entry/130050">130050</a>). Clinical details of this family were reported by <a href="#8" class="mim-tip-reference" title="De Paepe, A., Thaler, B., Van Gijsegem, M., Van Hoecke, D., Matton, M. <strong>Obstetrical problems in patients with Ehlers-Danlos syndrome type IV: a case report.</strong> Europ. J. Obstet. Gynec. Reprod. Biol. 33: 189-193, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2583342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2583342</a>] [<a href="https://doi.org/10.1016/0028-2243(89)90214-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2583342">De Paepe et al. (1989)</a>. This substitution most likely disrupted the triple-helical structure of the protein and made it less stable. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2583342+7749417" 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="0024" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY415SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912923 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912923;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=rs121912923" 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=rs121912923" 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=RCV000018765 OR RCV000181088 OR RCV000616909 OR RCV004528122" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018765, RCV000181088, RCV000616909, RCV004528122" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018765...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#1" class="mim-tip-reference" title="Anderson, D. W., Thakker-Varia, S., Tromp, G., Kuivaniemi, H., Stolle, C. A. <strong>A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.</strong> Hum. Mutat. 9: 62-63, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990011</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8990011">Anderson et al. (1997)</a> stated that more than 40 mutations in the type III procollagen gene had been described in patients with EDS IV (EDSVASC; <a href="/entry/130050">130050</a>). These mutations included missense mutations, splice site mutations, and deletions. They reported a G-to-A transition that altered codon 415 from GGT (glycine) to AGT (serine). They stated that the mutation results in impaired secretion and decreased thermal stability type III procollagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990011" 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="#46" class="mim-tip-reference" title="Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H. <strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong> New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>] [<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706896">Pepin et al. (2000)</a> found the G415S mutation in 2 of 135 unrelated EDS IV families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" 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="0025" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY934GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912924 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912924;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=rs121912924" 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=rs121912924" 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=RCV000018766" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018766" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018766</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#37" class="mim-tip-reference" title="McGrory, J., Weksberg, R., Thorner, P., Cole, W. G. <strong>Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.</strong> Clin. Genet. 50: 442-445, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9147870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9147870</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02709.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9147870">McGrory et al. (1996)</a> found a 3302G-A transition in exon 46 of the COL3A1 cDNA resulting in a gly934-to-glu substitution. The mutation resulted in a severe deficiency of type III collagen in fibroblast cultures and dermis. Dilatation of the endoplasmic reticulum of the dermal fibroblast was probably due to failure of these cells to secrete type III collagen molecules containing one or more mutant alpha-1(III) chains. The dermal collagen fibrils were narrow, but their constituent type III collagen molecules contained predominantly normal alpha-1(III) chains. As a result, the major effect of the mutation was to reduce severely the amount of normal type III collagen available for the formation of collagen fibrils in the extracellular matrix. The 50-year-old patient studied by <a href="#37" class="mim-tip-reference" title="McGrory, J., Weksberg, R., Thorner, P., Cole, W. G. <strong>Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.</strong> Clin. Genet. 50: 442-445, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9147870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9147870</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02709.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9147870">McGrory et al. (1996)</a> had hypermobile joints with recurrent dislocations of the shoulders, thumbs, and patellae, skin laxity, and easy bruising. At the age of 28 she had an aortic thrombosis and at 50 she developed proptosis and was shown to have carotico-cavernous fistulae and dilatations of the internal carotid and vertebral arteries. Her sister had similar cutaneous and joint anomalies, and had a myocardial infarction at 34 years of age. The proband's mother, aged 78 years, had joint hypermobility and skin laxity suggestive of EDS IV (EDSVASC; <a href="/entry/130050">130050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9147870" 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="0026" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY571SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912925 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912925;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=rs121912925" 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=rs121912925" 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=RCV000018767 OR RCV003329233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018767, RCV003329233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018767...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large kindred with EDS type IV (EDSVASC; <a href="/entry/130050">130050</a>) in which 15 members were affected in 4 generations, <a href="#13" class="mim-tip-reference" title="Gilchrist, D., Schwarze, U., Shields, K., MacLaren, L., Bridge, P. J., Byers, P. H. <strong>Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.</strong> Am. J. Med. Genet. 82: 305-311, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051163</a>]" pmid="10051163">Gilchrist et al. (1999)</a> identified a G-to-A transition that resulted in a gly571-to-ser substitution in the triple helical domain of the products of one COL3A1 allele. This family had a milder phenotype than that typically associated with EDS IV. Clinical presentation in some of the affected members occurred at a later age than usual. Longevity was longer than that seen in many families, and there was less pregnancy-associated morbidity or mortality than that found in some families. The authors suggested that some clinical aspects of EDS IV may be related to the nature of the mutation and its effect on the behavior of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051163" 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="0027" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY16SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912926 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912926;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=rs121912926" 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=rs121912926" 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=RCV000018768 OR RCV000479050 OR RCV001186047" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018768, RCV000479050, RCV001186047" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018768...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 7 of 135 unrelated families, <a href="#46" class="mim-tip-reference" title="Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H. <strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong> New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>] [<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706896">Pepin et al. (2000)</a> found a gly16-to-ser mutation in the COL3A1 gene as the cause of type IV EDS (EDSVASC; <a href="/entry/130050">130050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" 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="0028" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY82ASP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912927 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912927;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=rs121912927" 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=rs121912927" 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=RCV000018748 OR RCV001170886" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018748, RCV001170886" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018748...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 of 135 unrelated families, <a href="#46" class="mim-tip-reference" title="Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H. <strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong> New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>] [<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706896">Pepin et al. (2000)</a> found a gly82-to-asp mutation in the COL3A1 gene as the cause of type IV EDS (EDSVASC; <a href="/entry/130050">130050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" 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="0029" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY373ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018750" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018750" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018750</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 of 135 unrelated families, <a href="#46" class="mim-tip-reference" title="Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H. <strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong> New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>] [<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706896">Pepin et al. (2000)</a> found a gly373-to-arg mutation in the COL3A1 gene as the cause of type IV EDS (EDSVASC; <a href="/entry/130050">130050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" 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="0030" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY385GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912928 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912928;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=rs121912928" 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=rs121912928" 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=RCV000018751" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018751" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018751</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 of 135 unrelated families, <a href="#46" class="mim-tip-reference" title="Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H. <strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong> New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>] [<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10706896">Pepin et al. (2000)</a> found a gly385-to-glu mutation in the COL3A1 gene as the cause of type IV EDS (EDSVASC; <a href="/entry/130050">130050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" 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="0031" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY297ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1553507557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1553507557;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=rs1553507557" 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=rs1553507557" 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=RCV000018769" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018769" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018769</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and son with EDS type IV (EDSVASC; <a href="/entry/130050">130050</a>) and unusual congenital anomalies, <a href="#26" class="mim-tip-reference" title="Kroes, H. Y., Pals, G., van Essen, A. J. <strong>Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.</strong> Clin. Genet. 63: 224-227, 2003. Note: Erratum: Clin. Genet. 64: 375 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12694234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12694234</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00047.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12694234">Kroes et al. (2003)</a> identified an 889G-A transition in the COL3A1 gene, resulting in a gly297-to-arg (G297R) substitution. The mother had amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephalus; the son had esophageal atresia and hydrocephalus. The patients were also anomalous in that protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. <a href="#26" class="mim-tip-reference" title="Kroes, H. Y., Pals, G., van Essen, A. J. <strong>Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.</strong> Clin. Genet. 63: 224-227, 2003. Note: Erratum: Clin. Genet. 64: 375 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12694234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12694234</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00047.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12694234">Kroes et al. (2003)</a> referred to another patient in which the collagen profile was normal on electrophoresis but a pathogenic mutation was identified (<a href="#0032">120180.0032</a>). In that case also the phenotype was atypical and the mutation was located relatively near the N terminus of the protein. (The numbering originally used by <a href="#26" class="mim-tip-reference" title="Kroes, H. Y., Pals, G., van Essen, A. J. <strong>Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.</strong> Clin. Genet. 63: 224-227, 2003. Note: Erratum: Clin. Genet. 64: 375 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12694234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12694234</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00047.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12694234">Kroes et al. (2003)</a> started at the collagen part of the gene, with the first glycine codon of the triple helix, and the mutation was stated to be a 388G-A transition resulting in a GLY130ARG (G130R) substitution.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12694234" 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="0032" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 EHLERS-DANLOS SYNDROME, VASCULAR TYPE, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, IVS8DS, G-A, +5
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587779671 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587779671;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=rs587779671" 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=rs587779671" 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=RCV000087663 OR RCV000788733 OR RCV002354287" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087663, RCV000788733, RCV002354287" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087663...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#47" class="mim-tip-reference" title="Pinto, Y. M., Pals, G., Zijlstra, J. G., Tulleken, J. E. <strong>Ehlers-Danlos syndrome type IV. (Letter)</strong> New Eng. J. Med. 343: 366-368, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10928898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10928898</a>]" pmid="10928898">Pinto et al. (2000)</a> described a splice site mutation in the COL3A1 gene (IVS8+5G-A) in a 40-year-old man who did not show the classic phenotype of EDS IV (EDSVASC; <a href="/entry/130050">130050</a>). He had no skin or joint abnormalities. Examination showed necrotic degeneration in vascular walls, aneurysms, and medial degeneration in several tissues. Another notable feature was the finding of a normal collagen profile on electrophoresis, despite the DNA abnormality. The patient had a history of bilateral renal-artery stenosis and spontaneous hematothorax. Laparotomy for possible appendicitis revealed a pulseless ileocolic artery and an ischemic colon. Resection of ischemic intestine was performed on 2 successive days; on the third day laparotomy revealed a ruptured abdominal aorta (from which the patient ultimately died) and 6 days later laparotomy revealed a ruptured gallbladder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10928898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Byers, P. H., Schwarze, U., Pepin, M. <strong>Ehlers-Danlos syndrome type IV. (Letter)</strong> New Eng. J. Med. 343: 368 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10928899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10928899</a>] [<a href="https://doi.org/10.1056/NEJM200008033430514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10928899">Byers et al. (2000)</a> stated that their series of patients with EDS IV included 2 with the IVS8+5G-A mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10928899" 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="0033" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY883VAL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912914 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912914;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=rs121912914" 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=rs121912914" 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=RCV000018771" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018771" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018771</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 24-year-old woman with atypical features of EDS type IV (EDSVASC; <a href="/entry/130050">130050</a>) and her mother, <a href="#45" class="mim-tip-reference" title="Palmeri, S., Mari, F., Meloni, I., Malandrini, A., Ariani, F., Villanova, M., Pompilio, A., Schwarze, U., Byers, P. H., Renieri, A. <strong>Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.</strong> Clin. Genet. 63: 510-515, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12786757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12786757</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00075.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12786757">Palmeri et al. (2003)</a> identified a 3149G-T transversion in exon 44 of the COL3A1 gene, resulting in a gly883-to-val (G883V) mutation. The phenotypically normal maternal grandmother was found to be mosaic for this mutation. The proposita suffered from chronic pain in the legs and progressive retraction of her left Achilles tendon causing talipes equinovarus. She had suffered from painful nocturnal cramps of both legs since the age of 10 years. She had an acrogeric face and flexion contractures of the interphalangeal joints of the fourth and fifth fingers. The muscular features were initially considered suggestive of distal X-linked arthrogryposis multiplex congenita (<a href="/entry/301830">301830</a>). The mother suffered an ischemic stroke at the age of 43 years and died suddenly at the age of 48 years. A sister of the mother died at the age of 40 years of a ruptured abdominal aortic aneurysm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12786757" 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="0034" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, 1-BP DUP, 479T
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397509377 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397509377;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=rs397509377" 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=rs397509377" 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=RCV000022485" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022485" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022485</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 11-year-old French girl, born of consanguineous parents, with polymicrogyria with vascular-type EDS (PMGEDSV; <a href="/entry/618343">618343</a>), <a href="#48" class="mim-tip-reference" title="Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K. <strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong> Europ. J. Hum. Genet. 17: 1411-1416, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19455184">Plancke et al. (2009)</a> identified a homozygous 1-bp duplication (c.479dupT) in exon 5 of the COL3A1 gene, resulting in a frameshift and premature termination (Lys161GlnfsTer45). The transmission pattern was consistent with autosomal recessive inheritance. She had thin, translucent skin with marked scars, early-onset varicose veins, hypermobility of the small joints, gingival recession, hypoplastic nasal alae, and think lips. She also had delayed motor development, absence epilepsy, and diffuse cortical dysplasia. She presented with acute abdominal pain, and surgery revealed extreme intestinal, arterial, and tissue fragility. She died after surgery from multiple perforations, suture breakdown, and total evisceration. The patient's unaffected parents were each heterozygous for the mutation. The mutation was shown to result in nonsense-mediated decay. The lack of phenotype in the parents was discussed by <a href="#48" class="mim-tip-reference" title="Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K. <strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong> Europ. J. Hum. Genet. 17: 1411-1416, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19455184">Plancke et al. (2009)</a> in light of the study by <a href="#59" class="mim-tip-reference" title="Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H. <strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 69: 989-1001, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577371</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11577371[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/10.1086/324123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577371">Schwarze et al. (2001)</a>, who reported a severe phenotype resulting from COL3A1 haploinsufficiency due to truncating mutations. <a href="#48" class="mim-tip-reference" title="Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K. <strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong> Europ. J. Hum. Genet. 17: 1411-1416, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19455184">Plancke et al. (2009)</a> noted that heterozygous Col3a1-null mice have no phenotype (<a href="#33" class="mim-tip-reference" title="Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R. <strong>Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.</strong> Proc. Nat. Acad. Sci. 94: 1852-1856, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9050868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9050868</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9050868[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.5.1852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9050868">Liu et al., 1997</a>), similar to the parents of their French patient. <a href="#48" class="mim-tip-reference" title="Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K. <strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong> Europ. J. Hum. Genet. 17: 1411-1416, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.76" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19455184">Plancke et al. (2009)</a> also noted that the nonsense-mediated mRNA process is inefficient and, in the cases of <a href="#59" class="mim-tip-reference" title="Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H. <strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong> Am. J. Hum. Genet. 69: 989-1001, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577371</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11577371[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/10.1086/324123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11577371">Schwarze et al. (2001)</a>, could have resulted in the production of a small amount of protein with dominant-negative effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19455184+11577371+9050868" 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="0035" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, ARG596TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587779527 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587779527;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=rs587779527" 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=rs587779527" 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=RCV000497775 OR RCV000758208 OR RCV000763468" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000497775, RCV000758208, RCV000763468" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000497775...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, with polymicrogyria with vascular-type EDS (PMGEDSV; <a href="/entry/618343">618343</a>), <a href="#22" class="mim-tip-reference" title="Jorgensen, A., Fagerheim, T., Rand-Hendriksen, S., Lunde, P. I., Vorren, T. O., Pepin, M. G., Leistritz, D. F., Byers, P. H. <strong>Vascular Ehlers-Danlos syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.</strong> Europ. J. Hum. Genet. 23: 796-802, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25205403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25205403</a>] [<a href="https://doi.org/10.1038/ejhg.2014.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25205403">Jorgensen et al. (2015)</a> identified compound heterozygous mutations in the COL3A1 gene: a c.1786C-T transition in exon 26, resulting in an arg596-to-ter (R596X) substitution, and a c.3851G-A transition in exon 50, resulting in a gly1284-to-glu (G1284E; <a href="#0036">120180.0036</a>) substitution at a highly conserved residue in a triple helical domain. The c.1786C-T variant was predicted to result in nonsense-mediated mRNA decay and a null allele. Patient fibroblasts showed a reduced amount of type III procollagen, the chains of which all had an abnormal electrophoretic mobility compared to controls, suggestive of overmodification of the protein possibly resulting from slow folding of the triple helical domain. Fibroblasts from the mother, who was heterozygous for the G1284E variant, showed a small amount of abnormal type III procollagen. The mother had subtle features of the disorder, including small joint hypermobility, aortic elasticity, emphysema, and thin, translucent skin. The father, who was heterozygous for the R596X variant, had no clinical features suggestive of EDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25205403" 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="0036" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, GLY1284GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587779528 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587779528;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=rs587779528" 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=rs587779528" 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=RCV000087466 OR RCV000758209" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087466, RCV000758209" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087466...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.3851G-A transition in exon 50 of the COL3A1 gene, resulting in a gly1284-to-glu (G1284E) substitution, that was found in compound heterozygous state in 2 sibs with polymicrogyria with vascular-type EDS (PMGEDSV; <a href="/entry/618343">618343</a>) by <a href="#22" class="mim-tip-reference" title="Jorgensen, A., Fagerheim, T., Rand-Hendriksen, S., Lunde, P. I., Vorren, T. O., Pepin, M. G., Leistritz, D. F., Byers, P. H. <strong>Vascular Ehlers-Danlos syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.</strong> Europ. J. Hum. Genet. 23: 796-802, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25205403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25205403</a>] [<a href="https://doi.org/10.1038/ejhg.2014.181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25205403">Jorgensen et al. (2015)</a>, see <a href="#0035">120180.0035</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25205403" 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="0037" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, ARG428TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1576465155 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1576465155;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=rs1576465155" 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=rs1576465155" 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=RCV000758210 OR RCV002493385 OR RCV003523024 OR RCV004820102" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000758210, RCV002493385, RCV003523024, RCV004820102" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000758210...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old girl with polymicrogyria with vascular-type EDS (PMGEDSV; <a href="/entry/618343">618343</a>), <a href="#16" class="mim-tip-reference" title="Horn, D., Siebert, E., Seidel, U., Rost, I., Mayer, K., Abou Jamra, R., Mitter, D., Kornak, U. <strong>Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.</strong> Am. J. Med. Genet. 173A: 2534-2538, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28742248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28742248</a>] [<a href="https://doi.org/10.1002/ajmg.a.38345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28742248">Horn et al. (2017)</a> identified compound heterozygous mutations in the COL3A1 gene: a c.1281C-T transition (c.1281C-T, NM_000090.3) in exon 19, resulting in an arg428-to-ter (R428X) substitution, and a 1-bp deletion (c.2057delC; <a href="#0038">120180.0038</a>) in exon 31, resulting in a frameshift and premature termination (Pro686LeufsTer105). Neither variant was found in the dbSNP, 1000 Genomes Project, ExAC, or gnomAD databases. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to cause nonsense-mediated mRNA decay and an inability to contribute to a triple helix, consistent with a complete loss of function. Each unaffected parent was heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28742248" 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="0038" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, 1-BP DEL, 2057C
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559058482 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559058482;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=rs1559058482" 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=rs1559058482" 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=RCV000758211" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000758211" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000758211</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.2057delC, NM_000090.3) in the COL3A1 gene, resulting in a frameshift and premature termination (Pro686LeufsTer105), that was found in compound heterozygous state in a patient with polymicrogyria with vascular-type EDS (PMGEDSV; <a href="/entry/618343">618343</a>) by <a href="#16" class="mim-tip-reference" title="Horn, D., Siebert, E., Seidel, U., Rost, I., Mayer, K., Abou Jamra, R., Mitter, D., Kornak, U. <strong>Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.</strong> Am. J. Med. Genet. 173A: 2534-2538, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28742248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28742248</a>] [<a href="https://doi.org/10.1002/ajmg.a.38345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28742248">Horn et al. (2017)</a>, see <a href="#0037">120180.0037</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28742248" 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="0039" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL3A1, PRO49ALA
|
|
</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> rs1234344050 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1234344050;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/rs1234344050?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=rs1234344050" 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=rs1234344050" 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=RCV000758212 OR RCV000853487 OR RCV001253309" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000758212, RCV000853487, RCV001253309" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000758212...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with polymicrogyria without vascular-type Ehlers-Danlos syndrome (PMGEDSV; <a href="/entry/618343">618343</a>), who were born of unrelated parents from the same mountain village in Chechnya, <a href="#71" class="mim-tip-reference" title="Vandervore, L., Stouffs, K., Tanyalcin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jorgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H., Jansen, A. C. <strong>Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.</strong> J. Med. Genet. 54: 432-440, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28258187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28258187</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28258187">Vandervore et al. (2017)</a> identified a homozygous c.145C-G transversion (c.145C-G, NM_000090.3) in exon 2 of the COL3A1 gene, resulting in a pro49-to-ala (P49A) substitution at a highly conserved residue. The variant, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP or ExAC databases. The variant is located in a von Willebrand factor C domain that may mediate interaction with GPR56 (<a href="/entry/604110">604110</a>) in the N terminus of the pro-COL3A1 chain; this region is usually cleaved from the intact type III collagen domain. Patient fibroblasts showed increased levels of COL3A1 mRNA, but normal amounts of the COL3A1 protein. Immunoprecipitation assays showed no significant differences in the COL3A1 interaction with GPR56, although there was a slight alteration of binding capacity. <a href="#71" class="mim-tip-reference" title="Vandervore, L., Stouffs, K., Tanyalcin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jorgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H., Jansen, A. C. <strong>Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.</strong> J. Med. Genet. 54: 432-440, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28258187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28258187</a>] [<a href="https://doi.org/10.1136/jmedgenet-2016-104421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28258187">Vandervore et al. (2017)</a> suggested that there may be tissue-specific effects of the mutation that result in overstimulation of neuronal migration, or that the mutation may cause altered signaling patterns involved in pial basement membrane assembly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28258187" 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="#16" class="mim-tip-reference" title="Horn, D., Siebert, E., Seidel, U., Rost, I., Mayer, K., Abou Jamra, R., Mitter, D., Kornak, U. <strong>Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.</strong> Am. J. Med. Genet. 173A: 2534-2538, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28742248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28742248</a>] [<a href="https://doi.org/10.1002/ajmg.a.38345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28742248">Horn et al. (2017)</a> identified the same homozygous P49A mutation in 2 sibs, born of unrelated parents from Chechnya and Ingushetia, with polymicrogyria without vascular-type Ehlers-Danlos syndrome. Each unaffected parent was heterozygous for the mutation. Functional studies of the variant and studies of patient cells were not performed, but the variant was classified as pathogenic or likely pathogenic according to ACMG criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28742248" 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="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Dalgleish1985" class="mim-tip-reference" title="Dalgleish, R., Woodhouse, M., Reeders, S. <strong>An RFLP associated with the human type III collagen gene (COL3A1).</strong> Nucleic Acids Res. 13: 4609, 1985.">Dalgleish et al. (1985)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Anderson1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Anderson, D. W., Thakker-Varia, S., Tromp, G., Kuivaniemi, H., Stolle, C. A.
|
|
<strong>A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Mutat. 9: 62-63, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8990011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8990011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8990011" 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/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Byers2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Byers, P. H., Schwarze, U., Pepin, M.
|
|
<strong>Ehlers-Danlos syndrome type IV. (Letter)</strong>
|
|
New Eng. J. Med. 343: 368 only, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10928899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10928899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10928899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM200008033430514" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Byers1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Byers, P. H.
|
|
<strong>Personal Communication.</strong>
|
|
Seattle, Wash. 9/23/1993.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Byers1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Byers, P. H.
|
|
<strong>Personal Communication.</strong>
|
|
Seattle, Wash. 12/16/1998.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Cole1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cole, W. G., Chiodo, A. A., Lamande, S. R., Janeczko, R., Ramirez, F., Dahl, H.-H. M., Chan, D., Bateman, J. F.
|
|
<strong>A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
J. Biol. Chem. 265: 17070-17077, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2145268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2145268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2145268" 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="6" class="mim-anchor"></a>
|
|
<a id="Cutting1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cutting, G. R., McGinniss, M. J., Kasch, L. M., Tsipouras, P., Antonarakis, S. E.
|
|
<strong>Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35 kb region on human chromosome 2.</strong>
|
|
Genomics 8: 407-410, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1979060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1979060</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1979060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(90)90302-b" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Dalgleish1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dalgleish, R., Woodhouse, M., Reeders, S.
|
|
<strong>An RFLP associated with the human type III collagen gene (COL3A1).</strong>
|
|
Nucleic Acids Res. 13: 4609, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4011449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4011449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4011449" 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/nar/13.12.4609" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="De Paepe1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
De Paepe, A., Thaler, B., Van Gijsegem, M., Van Hoecke, D., Matton, M.
|
|
<strong>Obstetrical problems in patients with Ehlers-Danlos syndrome type IV: a case report.</strong>
|
|
Europ. J. Obstet. Gynec. Reprod. Biol. 33: 189-193, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2583342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2583342</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2583342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0028-2243(89)90214-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Emanuel1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Emanuel, B. S., Cannizzaro, L. A., Seyer, J. M., Myers, J. C.
|
|
<strong>Human alpha-1(III) and alpha-2(V) procollagen genes are located on the long arm of chromosome 2.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 3385-3389, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3858826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3858826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3858826" 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.82.10.3385" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Fox1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fox, R., Pope, F. M., Narcisi, P., Nicholls, A. C., Kendall, B. E., Hourihan, M. D., Compston, D. A. S.
|
|
<strong>Spontaneous carotid cavernous fistula in Ehlers-Danlos syndrome.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 51: 984-986, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3204406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3204406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3204406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.51.7.984" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Gatalica1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gatalica, Z., Gibas, Z., Martinez-Hernandez, A.
|
|
<strong>Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia.</strong>
|
|
Hum. Path. 23: 586-588, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1568754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1568754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1568754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0046-8177(92)90138-s" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="George1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
George, B., Mourier, K. L., Gelbert, F., Reizine, D., Raggueneau, J. L.
|
|
<strong>Vascular abnormalities in the neck associated with intracranial aneurysms.</strong>
|
|
Neurosurgery 24: 499-508, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2710295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2710295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2710295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1227/00006123-198904000-00003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Gilchrist1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gilchrist, D., Schwarze, U., Shields, K., MacLaren, L., Bridge, P. J., Byers, P. H.
|
|
<strong>Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.</strong>
|
|
Am. J. Med. Genet. 82: 305-311, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10051163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10051163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051163" 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="14" class="mim-anchor"></a>
|
|
<a id="Hamel1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamel, B. C. J., Pals, G., Engels, C. H. A. M., van den Akker, E., Boers, G. H. J., van Dongen, P. W. J., Steijlen, P. M.
|
|
<strong>Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.</strong>
|
|
Clin. Genet. 53: 440-446, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9712532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9712532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9712532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1998.tb02592.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Hartz2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 10/28/2013.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Horn2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Horn, D., Siebert, E., Seidel, U., Rost, I., Mayer, K., Abou Jamra, R., Mitter, D., Kornak, U.
|
|
<strong>Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.</strong>
|
|
Am. J. Med. Genet. 173A: 2534-2538, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28742248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28742248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28742248" 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.38345" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Huerre-Jeanpierre1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huerre-Jeanpierre, M., Mattei, M.-G., Weil, D., Grzeschik, K. H., Chu, M.-L., Sangiorgi, F. O., Sobel, M. E., Ramirez, F., Junien, C.
|
|
<strong>Further evidence for the dispersion of the human fibrillar collagen genes.</strong>
|
|
Am. J. Hum. Genet. 38: 26-37, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3004202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3004202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3004202" 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="18" class="mim-anchor"></a>
|
|
<a id="Janeczko1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Janeczko, R. A., Ramirez, F.
|
|
<strong>Nucleotide and amino acid sequences of the entire human alpha-1(III) collagen.</strong>
|
|
Nucleic Acids Res. 17: 6742, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2780304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2780304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2780304" 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/nar/17.16.6742" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Jarvis2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jarvis, G. E., Raynal, N., Langford, J. P., Onley, D. J., Andrews, A., Smethurst, P. A., Farndale, R. W.
|
|
<strong>Identification of a major GpVI-binding locus in human type III collagen.</strong>
|
|
Blood 111: 4986-4996, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18305222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18305222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18305222[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=18305222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1182/blood-2007-08-108472" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Jeong2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jeong, S.-J., Li, S., Luo, R., Strokes, N., Piao, X.
|
|
<strong>Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.</strong>
|
|
PLoS One 7: e29767, 2012. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22235340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22235340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22235340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1371/journal.pone.0029767" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Johnson1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Johnson, P. H., Richards, A. J., Pope, F. M., Hopkinson, D. A.
|
|
<strong>A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.</strong>
|
|
J. Inherit. Metab. Dis. 15: 426-430, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1357232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1357232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1357232" 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/BF02435995" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Jorgensen2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jorgensen, A., Fagerheim, T., Rand-Hendriksen, S., Lunde, P. I., Vorren, T. O., Pepin, M. G., Leistritz, D. F., Byers, P. H.
|
|
<strong>Vascular Ehlers-Danlos syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.</strong>
|
|
Europ. J. Hum. Genet. 23: 796-802, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25205403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25205403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25205403" 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/ejhg.2014.181" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Kontusaari1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kontusaari, S., Tromp, G., Kuivaniemi, H., Ladda, R. L., Prockop, D. J.
|
|
<strong>Inheritance of an RNA splicing mutation (G(+1) IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Hum. Genet. 47: 112-120, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2349939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2349939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2349939" 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="24" class="mim-anchor"></a>
|
|
<a id="Kontusaari1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kontusaari, S., Tromp, G., Kuivaniemi, H., Romanic, A. M., Prockop, D. J.
|
|
<strong>A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.</strong>
|
|
J. Clin. Invest. 86: 1465-1473, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2243125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2243125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2243125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114863" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Kontusaari1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kontusaari, S., Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F. M., Prockop, D. J.
|
|
<strong>Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.</strong>
|
|
Am. J. Hum. Genet. 51: 497-507, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1496983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1496983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1496983" 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="26" class="mim-anchor"></a>
|
|
<a id="Kroes2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kroes, H. Y., Pals, G., van Essen, A. J.
|
|
<strong>Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.</strong>
|
|
Clin. Genet. 63: 224-227, 2003. Note: Erratum: Clin. Genet. 64: 375 only, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12694234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12694234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12694234" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2003.00047.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Kuivaniemi1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kuivaniemi, H., Kontusaari, S., Tromp, G., Zhao, M., Sabol, C., Prockop, D. J.
|
|
<strong>Identical G(+1)-to-A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos Syndrome IV: an explanation for exon skipping with some mutations and not others.</strong>
|
|
J. Biol. Chem. 265: 12067-12074, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2365710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2365710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2365710" 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="28" class="mim-anchor"></a>
|
|
<a id="Kuivaniemi1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kuivaniemi, H., Tromp, G., Prockop, D. J.
|
|
<strong>Genetic causes of aortic aneurysms: unlearning at least part of what the textbooks say.</strong>
|
|
J. Clin. Invest. 88: 1441-1444, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1939638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1939638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1939638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115452" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Kuivaniemi1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kuivaniemi, H., Tromp, G., Prockop, D. J.
|
|
<strong>Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.</strong>
|
|
Hum. Mutat. 9: 300-315, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9101290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9101290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9101290" 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/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Lee1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, B., D'Alessio, M., Vissing, H., Ramirez, F., Steinmann, B., Superti-Furga, A.
|
|
<strong>Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Hum. Genet. 48: 511-517, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1998337" 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="31" class="mim-anchor"></a>
|
|
<a id="Lee1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, B., Vitale, E., Superti-Furga, A., Steinmann, B., Ramirez, F.
|
|
<strong>G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
J. Biol. Chem. 266: 5256-5259, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1672129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1672129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1672129" 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="32" class="mim-anchor"></a>
|
|
<a id="Limongi1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Limongi, M. Z., Pelliccia, F., Rocchi, A.
|
|
<strong>Assignment of the human nebulin gene (NEB) to chromosome band 2q24.2 and the alpha-1 (III) collagen gene (COL3A1) to chromosome band 2q32.2 by in situ hybridization: the FRA2G common fragile site lies between the two genes in the 2q31 band.</strong>
|
|
Cytogenet. Cell Genet. 77: 259-260, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9284930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9284930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9284930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000134590" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Liu1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R.
|
|
<strong>Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.</strong>
|
|
Proc. Nat. Acad. Sci. 94: 1852-1856, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9050868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9050868</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9050868[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=9050868" 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.94.5.1852" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Lloyd1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lloyd, J., Narcisi, P., Richards, A., Pope, F. M.
|
|
<strong>A T(+6) to C(+6) mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.</strong>
|
|
J. Med. Genet. 30: 376-380, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8320698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8320698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8320698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.30.5.376" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Matton1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Matton, M. T., De Paepe, A., De Keyser, F., Francois, B.
|
|
<strong>Unusual familial manifestation of Ehlers-Danlos syndrome. In: Papadatos, C. J.; Bartsocas, C. H. S.: Skeletal Dysplasias.</strong>
|
|
New York: Alan R. Liss (pub.) 1982. Pp. 243-257.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="McGrory1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McGrory, J., Costa, T., Cole, W. G.
|
|
<strong>A novel G499D substitution in the alpha-1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Mutat. 7: 59-60, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8664902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8664902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8664902" 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/(SICI)1098-1004(1996)7:1<59::AID-HUMU8>3.0.CO;2-K" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="McGrory1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McGrory, J., Weksberg, R., Thorner, P., Cole, W. G.
|
|
<strong>Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.</strong>
|
|
Clin. Genet. 50: 442-445, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9147870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9147870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9147870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02709.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Mizuno2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mizuno, K., Boudko, S, Engel, J., Bachinger, H. P.
|
|
<strong>Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.</strong>
|
|
J. Biol. Chem. 288: 19166-19176, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23645670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23645670</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23645670[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=23645670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.M113.462002" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Morris1957" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morris, D.
|
|
<strong>Acrogeria.</strong>
|
|
J. Roy. Soc. Med. 50: 330-331, 1957.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Mudryj1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mudryj, M., Merry, D. E., de Crombrugghe, B., McBride, O. W.
|
|
<strong>Human collagen III (COL3A1) is on chromosome 2q. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 704, 1985.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Narcisi1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Narcisi, P., Richards, A. J., Ferguson, S. D., Pope, F. M.
|
|
<strong>A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen.</strong>
|
|
Hum. Molec. Genet. 3: 1617-1620, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7833919" 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/3.9.1617" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Narcisi1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Narcisi, P., Wu, Y., Tromp, G., Earley, J. J., Richards, A. J., Pope, F. M., Kuivaniemi, H.
|
|
<strong>Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Med. Genet. 46: 278-283, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8098182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8098182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8098182" 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.1320460308" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Nicholls1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nicholls, A. C., De Paepe, A., Narcisi, P., Dalgleish, R., De Keyser, F., Matton, M., Pope, F. M.
|
|
<strong>Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.</strong>
|
|
Hum. Genet. 78: 276-281, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3162228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3162228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3162228" 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/BF00291676" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Nuytinck1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nuytinck, L., Narcisi, P., Nicholls, A., Renard, J. P., Pope, F. M., De Paepe, A.
|
|
<strong>Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.</strong>
|
|
J. Med. Genet. 29: 375-380, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1619632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1619632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1619632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.29.6.375" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Palmeri2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Palmeri, S., Mari, F., Meloni, I., Malandrini, A., Ariani, F., Villanova, M., Pompilio, A., Schwarze, U., Byers, P. H., Renieri, A.
|
|
<strong>Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.</strong>
|
|
Clin. Genet. 63: 510-515, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12786757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12786757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12786757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2003.00075.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Pepin2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H.
|
|
<strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong>
|
|
New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM200003093421001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Pinto2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pinto, Y. M., Pals, G., Zijlstra, J. G., Tulleken, J. E.
|
|
<strong>Ehlers-Danlos syndrome type IV. (Letter)</strong>
|
|
New Eng. J. Med. 343: 366-368, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10928898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10928898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10928898" 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="48" class="mim-anchor"></a>
|
|
<a id="Plancke2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K.
|
|
<strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong>
|
|
Europ. J. Hum. Genet. 17: 1411-1416, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19455184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19455184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19455184[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=19455184" 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/ejhg.2009.76" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Pope1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pope, F. M., Nicholls, A. C., Jones, P. M., Wells, R. S., Lawrence, D.
|
|
<strong>EDS IV (acrogeria): new autosomal dominant and recessive types.</strong>
|
|
J. Roy. Soc. Med. 73: 180-186, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7230200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7230200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7230200" 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="50" class="mim-anchor"></a>
|
|
<a id="Pope1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pope, F. M., Nicholls, A. C., Narcisi, P., Temple, A., Chia, Y., Fryer, P., De Paepe, A., De Groote, W. P., McEwan, J. R., Compston, D. A., Oorthuys, H., Davies, J., Dinwoodie, D. L.
|
|
<strong>Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders.</strong>
|
|
Clin. Exp. Derm. 13: 285-302, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3076851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3076851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3076851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1365-2230.1988.tb00709.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Pyeritz1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pyeritz, R. E., Stolle, C. A., Parfrey, N. A., Myers, J. C.
|
|
<strong>Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen.</strong>
|
|
Am. J. Med. Genet. 19: 607-622, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6507506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6507506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6507506" 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.1320190328" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Richards1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Richards, A. J., Lloyd, J. C., Narcisi, P., Ward, P. N., Nicholls, A. C., De Paepe, A., Pope, F. M.
|
|
<strong>A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Genet. 88: 325-330, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1370809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1370809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1370809" 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/BF00197268" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Richards1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Richards, A. J., Lloyd, J. C., Ward, P. N., De Paepe, A., Narcisi, P., Pope, F. M.
|
|
<strong>Characterization of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
J. Med. Genet. 28: 458-463, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1895316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1895316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1895316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.28.7.458" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Richards1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Richards, A. J., Ward, P. N., Narcisi, P., Nicholls, A. C., Lloyd, J. C., Pope, F. M.
|
|
<strong>A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV: an unaffected family member is mosaic for the mutation.</strong>
|
|
Hum. Genet. 89: 414-418, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1352273" 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/BF00194313" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Roberts1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roberts, D. L. L., Pope, F. M., Nicholls, A. C., Narcisi, P.
|
|
<strong>Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.</strong>
|
|
Brit. J. Derm. 111: 341-345, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6477831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6477831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6477831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1365-2133.1984.tb04733.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Schievink1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schievink, W. I., Limburg, M.
|
|
<strong>Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. (Letter)</strong>
|
|
Neurosurgery 25: 482-483, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2771024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2771024</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2771024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00006123-198909000-00033" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Schurr1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schurr, E., Skamene, E., Morgan, K., Chu, M.-L., Gros, P.
|
|
<strong>Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q.</strong>
|
|
Genomics 8: 477-486, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1981051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1981051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1981051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(90)90034-r" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Schwarze1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwarze, U., Goldstein, J. A., Byers, P. H.
|
|
<strong>Splicing defects in the COL3A1 gene: marked preference for 5-prime (donor) splice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Hum. Genet. 61: 1276-1286, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301641" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Schwarze2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H.
|
|
<strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Hum. Genet. 69: 989-1001, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11577371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11577371</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11577371[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=11577371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/324123" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Sillence1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sillence, D. O., Chiodo, A. A., Campbell, P. E., Cole, W. G.
|
|
<strong>Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.</strong>
|
|
J. Med. Genet. 28: 840-845, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1757960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1757960</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1757960" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.28.12.840" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Solomon1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Solomon, E., Hiorns, L. R., Spurr, N., Kurkinen, M., Barlow, D., Hogan, B. L. M., Dalgleish, R.
|
|
<strong>Chromosomal assignments of the genes coding for human types II, III and IV collagen: a dispersed gene family.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 3330-3334, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2987919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2987919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2987919" 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.82.10.3330" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Stolle1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stolle, C. A., Pyeritz, R. E., Myers, J. C., Prockop, D. J.
|
|
<strong>Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome: a structural change in the alpha-1(III) chain which makes the protein more susceptible to proteinases.</strong>
|
|
J. Biol. Chem. 260: 1937-1944, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2981879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2981879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2981879" 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="63" class="mim-anchor"></a>
|
|
<a id="Superti-Furga1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Superti-Furga, A., Gugler, E., Gitzelmann, R., Steinmann, B.
|
|
<strong>Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.</strong>
|
|
J. Biol. Chem. 263: 6226-6232, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2834369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2834369</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2834369" 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="64" class="mim-anchor"></a>
|
|
<a id="Thakker-Varia1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thakker-Varia, S., Anderson, D. W., Kuivaniemi, H., Tromp, G., Shin, H.-G., van der Rest, M., Glorieux, F. H., Ala-Kokko, L., Stolle, C. A.
|
|
<strong>Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.</strong>
|
|
Hum. Mutat. 6: 116-125, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581395" 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.1380060204" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Tromp1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tromp, G., De Paepe, A., Nuytinck, L., Madhatheri, S., Kuivaniemi, H.
|
|
<strong>Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Mutat. 5: 179-181, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7749417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7749417</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7749417" 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.1380050213" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Tromp1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tromp, G., Kuivaniemi, H., Shikata, H., Prockop, D. J.
|
|
<strong>A single base mutation that substitutes serine for glycine 790 of the alpha-1(III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.</strong>
|
|
J. Biol. Chem. 264: 1349-1352, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2492273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2492273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2492273" 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="67" class="mim-anchor"></a>
|
|
<a id="Tromp1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F. M., Prockop, D. J.
|
|
<strong>Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.</strong>
|
|
J. Biol. Chem. 264: 19313-19317, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2808425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2808425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2808425" 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="68" class="mim-anchor"></a>
|
|
<a id="Tromp1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tromp, G., Wu, Y., Prockop, D. J., Madhatheri, S. L., Kleinert, C., Earley, J. J., Zhuang, J., Norrgard, O., Darling, R. C., Abbott, W. M., Cole, C. W., Jaakkola, P., Ryynanen, M., Pearce, W. H., Yao, J. S. T., Majamaa, K., Smullens, S. N., Gatalica, Z., Ferrell, R. E., Jimenez, S. A., Jackson, C. E., Michels, V. V., Kaye, M., Kuivaniemi, H.
|
|
<strong>Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.</strong>
|
|
J. Clin. Invest. 91: 2539-2545, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8514866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8514866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8514866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI116490" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Tsipouras1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tsipouras, P., Schwartz, R. C., Liddell, A. C., Salkeld, C. S., Weil, D., Ramirez, F.
|
|
<strong>Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.</strong>
|
|
Genomics 3: 275-277, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3224983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3224983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3224983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(88)90089-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="van den Berg1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van den Berg, J. S. P., Limburg, M., Kappelle, L. J., Pals, G., Arwert, F., Westerveld, A.
|
|
<strong>The role of type III collagen in spontaneous cervical arterial dissections.</strong>
|
|
Ann. Neurol. 43: 494-498, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9546331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9546331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9546331" 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/ana.410430413" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Vandervore2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vandervore, L., Stouffs, K., Tanyalcin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jorgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H., Jansen, A. C.
|
|
<strong>Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.</strong>
|
|
J. Med. Genet. 54: 432-440, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28258187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28258187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28258187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmedgenet-2016-104421" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Wu1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wu, Y., Kuivaniemi, H., Tromp, G., Strobel, D., Romanic, A. M., Prockop, D. J.
|
|
<strong>Temperature sensitivity of aberrant RNA splicing with a mutation in the G(+5) position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Mutat. 2: 28-36, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8477261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8477261</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8477261" 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.1380020106" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Zafarullah1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zafarullah, K., Kleinert, C., Tromp, G., Kuivaniemi, H., Kontusaari, S., Wu, Y., Ganguly, A., Prockop, D. J.
|
|
<strong>G to A polymorphism in exon 31 of the COL3A1 gene.</strong>
|
|
Nucleic Acids Res. 18: 6180, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2235526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2235526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2235526" 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/nar/18.20.6180" 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">
|
|
Cassandra L. Kniffin - updated : 03/04/2019
|
|
</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">
|
|
Patricia A. Hartz - updated : 10/15/2013<br>Cassandra L. Kniffin - updated : 4/22/2011<br>Marla J. F. O'Neill - updated : 9/25/2009<br>Patricia A. Hartz - updated : 6/4/2009<br>Victor A. McKusick - updated : 8/29/2003<br>Victor A. McKusick - updated : 7/10/2003<br>Victor A. McKusick - updated : 4/22/2003<br>Deborah L. Stone - updated : 2/28/2002<br>Victor A. McKusick - updated : 3/23/2000<br>Sonja A. Rasmussen - updated : 5/12/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Orest Hurko - updated : 11/9/1998<br>Victor A. McKusick - updated : 2/16/1998<br>Victor A. McKusick - updated : 10/20/1997<br>Victor A. McKusick - updated : 4/7/1997<br>Victor A. McKusick - updated : 3/12/1997<br>Victor A. McKusick - updated : 2/28/1997<br>Iosif W. Lurie - updated : 9/22/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</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 : 03/07/2019
|
|
</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 : 03/05/2019<br>ckniffin : 03/04/2019<br>carol : 12/21/2017<br>carol : 04/26/2017<br>carol : 04/25/2017<br>alopez : 10/07/2016<br>carol : 03/25/2016<br>carol : 4/13/2015<br>mgross : 10/28/2013<br>tpirozzi : 10/15/2013<br>carol : 9/18/2013<br>terry : 6/20/2012<br>carol : 5/30/2012<br>wwang : 5/12/2011<br>ckniffin : 4/22/2011<br>carol : 9/16/2010<br>terry : 9/16/2010<br>carol : 9/28/2009<br>carol : 9/25/2009<br>wwang : 7/29/2009<br>mgross : 6/4/2009<br>mgross : 6/4/2009<br>terry : 6/4/2009<br>alopez : 12/19/2005<br>terry : 6/25/2004<br>tkritzer : 9/17/2003<br>tkritzer : 9/5/2003<br>terry : 8/29/2003<br>carol : 8/18/2003<br>tkritzer : 8/4/2003<br>tkritzer : 7/31/2003<br>terry : 7/30/2003<br>terry : 7/28/2003<br>terry : 7/10/2003<br>cwells : 4/28/2003<br>terry : 4/22/2003<br>carol : 2/27/2003<br>carol : 2/28/2002<br>alopez : 3/13/2001<br>mcapotos : 4/14/2000<br>mcapotos : 4/14/2000<br>mcapotos : 4/13/2000<br>carol : 3/28/2000<br>carol : 3/28/2000<br>terry : 3/23/2000<br>carol : 2/17/2000<br>carol : 5/13/1999<br>carol : 5/12/1999<br>carol : 2/5/1999<br>terry : 1/25/1999<br>dkim : 12/10/1998<br>carol : 11/25/1998<br>terry : 11/9/1998<br>alopez : 9/10/1998<br>terry : 6/3/1998<br>mark : 2/25/1998<br>terry : 2/16/1998<br>mark : 10/22/1997<br>terry : 10/20/1997<br>terry : 6/23/1997<br>terry : 6/20/1997<br>mark : 4/7/1997<br>terry : 4/1/1997<br>terry : 3/12/1997<br>terry : 3/6/1997<br>mark : 2/28/1997<br>terry : 2/26/1997<br>mark : 12/9/1996<br>carol : 9/22/1996<br>mark : 1/31/1996<br>terry : 1/25/1996<br>mark : 10/2/1995<br>terry : 11/16/1994<br>davew : 8/17/1994<br>carol : 4/12/1994<br>warfield : 4/8/1994<br>pfoster : 3/25/1994
|
|
</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> 120180
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
COLLAGEN, TYPE III, ALPHA-1; COL3A1
|
|
|
|
</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">
|
|
COLLAGEN, FETAL<br />
|
|
COLLAGEN, BLOOD VESSEL
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: COL3A1</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 17025000;
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q79.63;
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 2q32.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 2:188,974,373-189,012,746 </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">
|
|
2q32.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ehlers-Danlos syndrome, vascular type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
130050
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Polymicrogyria with or without vascular-type EDS
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
618343
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</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>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Type III collagen is a fibrillar-forming collagen comprising 3 alpha-1(III) chains and is expressed in early embryos and throughout embryogenesis. In adult, type III collagen is a major component of the extracellular matrix in a variety of internal organs and skin (Liu et al., 1997). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Janeczko and Ramirez (1989) presented the nucleotide and amino acid sequences of type III collagen. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Jorgensen et al. (2015) noted that the fourth exon in the COL3A1 gene (residues 112 to 149 of the protein) appears to have fused the sequences equivalent to exons 4 and 5 in other fibrillar collagens. Thus, it is named exon 4/5 and the subsequent exon is designated exon 6. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using a cloned gene as a probe on Southern blots of DNA from a panel of interspecies somatic cell hybrids, Solomon et al. (1985) assigned the COL3A1 gene to chromosome 2. Mudryj et al. (1985) independently assigned COL3A1 to chromosome 2q. Emanuel et al. (1985) concluded that both the alpha-1(III) and the alpha-2(V) procollagen genes map to chromosome 2q24.3-q31. To the time of this report, this was the only example of synteny of procollagen genes. By somatic cell hybrid studies and in situ hybridization, Huerre-Jeanpierre et al. (1986) assigned the COL3A1 gene to chromosome 2q31-q32.3. </p><p>Tsipouras et al. (1988) demonstrated that the COL3A1 and the COL5A2 (120190) genes are very close together; they found a maximum lod score of 9.33 at a recombination fraction of 0.00. Cutting et al. (1990) showed by pulsed field gel electrophoresis that the COL3A1 and COL5A2 genes are in the same 35 kb segment. </p><p>By fluorescence in situ hybridization, Limongi et al. (1997) concluded that the COL3A1 gene is located in chromosome band 2q32.2 and that the nebulin gene (161650) is located in band 2q24.2; the FRA2G fragile site was found to lie between the 2 genes in the 2q31 band. </p><p>Hartz (2013) mapped the COL3A1 gene to chromosome 2q32.2 based on an alignment of the COL3A1 sequence (GenBank M11134) with the genomic sequence (GRCh37).</p><p>To define the limits of the homologous segment between human chromosome 2 and proximal mouse chromosome 1, Schurr et al. (1990) determined the segregation of the mouse homologs of 7 human genes located on 2q with anchor loci on mouse chromosome 1. They concluded that COL3A1 and COL6A3 (120250) defined the limits of a homologous segment that in the mouse covers slightly more than 30 cM. They suggested that the order of loci in this segment of the mouse chromosome might be the same as the order in the human homolog. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using synthetic triple-helical collagen-like peptides derived from the sequence of human and bovine type III collagen, Jarvis et al. (2008) identified several peptides that interacted with mouse and human GP VI (GP6; 605546). In particular, 1 peptide designated III-30 bound both mouse and human platelets in a GP VI-dependent manner. The III-30 peptide contained 3 hydroxyproline (O) residues within its OGP/GPO motifs, and modification of the III-30 peptide sequence indicated that these hydroxyproline residues played a significant role in supporting its GP VI reactivity, although motifs other than OGP/GPO contributed to the interaction. </p><p>Type III collagen serves as a ligand for the adhesion receptor GPR56 (ADGRG1; 604110). This interaction regulates the integrity of the pial basement membrane and cortical lamination in the brain, which is important for neuronal migration (summary by Vandervore et al., 2017). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Byers (1993) estimated that there are approximately 25 known mutations in the COL3A1 gene. These are divided about equally between point mutations that change a gly residue to another amino acid and exon skipping mutations. In the case of the COL1A1 gene, exon skipping mutations are much less frequent than point mutations. The COL3A1 gene also has an unusually high frequency of multi-exon deletions.</p><p>Van den Berg et al. (1998) studied the ratio of type III to type I collagen in fibroblast cultures from 16 patients with spontaneous cervical arterial dissections. Two of these patients had a low ratio of type III to type I, but no mutations in the type III collagen gene were detected by SSCP heteroduplex analysis. </p><p>Kuivaniemi et al. (1997) tabulated all reported disease-producing mutations in the COL3A1 gene. </p><p><strong><em>Ehlers-Danlos Syndrome, Vascular Type</em></strong></p><p>
|
|
In 33 unrelated individuals or families with EDS type IV, the vascular type of EDS (EDSVASC; 130050), Schwarze et al. (1997) identified heterozygous mutations that affect splicing of the COL3A1 mRNA, of which 30 were point mutations at splice junctions and 3 were small deletions that removed splice-junction sequences and partial exon sequences. With the exception of 1 point mutation at a donor site, which led to partial intron inclusion, and a single-basepair substitution at an acceptor site, which gave rise to inclusion of the complete upstream intron into the mature mRNA, all mutations resulted in deletion of a single exon as the only splice alteration. Of the exon-skipping mutations that were due to single-base substitutions, which they had identified in 28 separate individuals, only 2 affected the splice-acceptor site. The underrepresentation of splice acceptor site mutations suggested to Schwarze et al. (1997) that the favored consequence of 3-prime mutations may be the use of an alternative acceptor site that creates a null allele with a premature termination codon. Phenotypes of these mutations may differ, with respect to either their severity or their symptomatic range, from the usual presentation of EDS type IV, and thus were excluded from the analysis. </p><p>Hamel et al. (1998) described 11 patients with a clinical phenotype consistent with the diagnosis of EDS and all with collagen III abnormalities. Collagen V appeared to be normal in all. The clinical diagnosis had been EDS II (see 130000), III (130020), or IV. There appeared to be no correlation between the type of collagen III anomaly and the clinical phenotype. Hamel et al. (1998) concluded that type III collagen abnormalities lead to a phenotypic spectrum and that it is impossible to predict severity and course of the disease from the biochemical defect. </p><p>Gilchrist et al. (1999) identified a gly571-to-ser mutation (120180.0026) in the COL3A1 gene in a large family with a milder phenotype than that typically associated with EDS type IV. They suggested that the nature of the substitution and its position may play a role in phenotype determination. </p><p>Pepin et al. (2000) determined the underlying COL3A1 mutation in 135 index patients with Ehlers-Danlos syndrome type IV. They found no association between types of complications and specific mutations in COL3A1. Four mutations led to the deletion of multiple exons, and 41 led to the skipping of a single exon. One mutation, ivs24+1G-A, led to the skipping of exon 24 in 7 unrelated index patients. In a total of 85 index patients, 73 different point mutations led to the substitution of some other amino acid for glycine in various regions of the triple-helical domain. A number of mutations--G16S (120180.0027) (7 families) and G82D (120180.0028), G373R (120180.0029), G385E (120180.0030), G415S (120180.0024), G499D (120180.0022), and G1021E (120180.0017) (2 families each)--were identified multiple times in unrelated index patients. </p><p>Mizuno et al. (2013) reported that EDS-associated mutations in the middle or close to the C terminus of COL3A1, including gly910 to val (120180.0010), significantly slowed the overall rate of triple-helix formation by COL3A1. </p><p><strong><em>Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome</em></strong></p><p>
|
|
Plancke et al. (2009) reported an 11-year-old French girl, born of consanguineous parents, with polymicrogyria with vascular-type EDS (PMGEDSV; 618343), who was found to carry a homozygous truncating mutation in the COL3A1 gene (479dupT; 120180.0034). The patient's unaffected parents were each heterozygous for the mutation, suggesting autosomal recessive inheritance. The mutation was shown to result in nonsense-mediated decay. The lack of phenotype in the parents was discussed by Plancke et al. (2009) in light of the study by Schwarze et al. (2001), who reported a severe phenotype resulting from COL3A1 haploinsufficiency due to truncating mutations. Plancke et al. (2009) noted that heterozygous Col3a1-null mice have no phenotype (Liu et al., 1997), similar to the parents of their French patient. Plancke et al. (2009) also noted that the nonsense-mediated mRNA process is inefficient and, in the cases of Schwarze et al. (2001), could have resulted in the production of a small amount of protein with dominant-negative effects. </p><p>In 2 sibs with PMGEDSV, Jorgensen et al. (2015) identified compound heterozygous mutations in the COL3A1 gene: a nonsense mutation (R596X; 120180.0035) and a substitution at a glycine residue (G1284E; 120180.0036). Patient fibroblasts showed a reduced amount of type III procollagen, the chains of which all had an abnormal electrophoretic mobility compared to controls, suggestive of overmodification of the protein possibly resulting from slow folding of the triple helical domain. Fibroblasts from the mother, who was heterozygous for the G1284E variant, showed a small amount of abnormal type III procollagen. The mother had subtle features of the disorder, including small joint hypermobility, aortic elasticity, emphysema, and thin, translucent skin. The father, who was heterozygous for the R596X variant, had no clinical features suggestive of EDS. </p><p>In a 3-year-old girl with PMGEDSV, Horn et al. (2017) identified compound heterozygous loss-of-function mutations in the COL3A1 gene (120180.0037 and 120180.0038). Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to cause nonsense-mediated mRNA decay and an inability to contribute to a triple helix, consistent with a complete loss of function. Each unaffected parent was heterozygous for 1 of the mutations. </p><p>In 2 sibs with polymicrogyria without vascular-type Ehlers-Danlos syndrome (PMGEDSV; 618343), who were born of unrelated parents from the same mountain village in Chechnya, Vandervore et al. (2017) identified a homozygous missense mutation in the COL3A1 gene (P49A; 120180.0039). The variant, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant is located in a von Willebrand factor C domain that may mediate interaction with GPR56 (604110) in the N terminus of the pro-COL3A1 chain; this region is usually cleaved from the intact type III collagen domain. Patient fibroblasts showed increased levels of COL3A1 mRNA, but normal amounts of the COL3A1 protein. Immunoprecipitation assays showed no significant differences in the COL3A1 interaction with GPR56, although there was a slight alteration of binding capacity. Vandervore et al. (2017) suggested that there may be tissue-specific effects of the mutation that may result in overstimulation of neuronal migration, or that the mutation may cause altered signaling patterns involved in pial basement membrane assembly. </p><p>Horn et al. (2017) identified the same homozygous P49A mutation in 2 sibs, born of unrelated parents from Chechnya and Ingushetia, with polymicrogyria without vascular-type Ehlers-Danlos syndrome. Each unaffected parent was heterozygous for the mutation. Functional studies of the variant and studies of patient cells were not performed, but the variant was classified as pathogenic or likely pathogenic according to ACMG criteria. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Schwarze et al. (2001) studied 4 patients with EDS IV who presented with vascular aneurysm or rupture and were found to be haploinsufficient for a COL3A1 allele. They found 3 frameshift mutations that resulted in premature termination codons in exons 27, 6, and 9, and to allele-product instability. The fourth patient was found to have a termination point mutation in the final exon that resulted in a stable mRNA product but led to the synthesis of a truncated protein that was not incorporated into mature type III procollagen molecules. Schwarze et al. (2001) noted that in contrast to the severe phenotype in these patients, mice that are haploinsufficient for COL3A1 have no identified phenotype and individuals with null mutations in the dominant protein of a tissue, i.e., COL1A1 and COL2A1, have milder phenotypes than those caused by mutations that alter protein sequence. Schwarze et al. (2001) suggested that the major effect of many of these dominant mutations in the 'minor' collagen genes may be expressed through protein deficiency rather than through incorporation of structurally altered molecules into fibrils. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>To study directly the role of COL3A1 in development and disease, Liu et al. (1997) inactivated the murine Col3a1 gene in embryonic stem cells by homologous recombination. The mutated allele was transmitted through the mouse germline and homozygous mutant animals were derived from heterozygous intercrosses. Heterozygous mice were phenotypically normal. However, about 10% of the homozygous mutant animals survived to adulthood but had a much shorter life span compared with wildtype mice. The major cause of death in mutant mice was rupture of the major blood vessels, similar to patients with type IV Ehlers-Danlos syndrome. Ultrastructural analysis of tissues from mutant mice revealed that type III collagen is essential for normal collagen I fibrillogenesis in the cardiovascular system and other organs. </p><p>Jeong et al. (2012) found that homozygous Col3a1-null mice had a cobblestone-like cortical malformation with breakdown of the pial basement membrane and marginal zone heterotopias. There was also neuronal overmigration and radial glial detachment. The defects started around embryonic day 11.5. The findings indicated an important role for collagen III in the developing brain. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>39 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY790SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509369,
|
|
|
|
|
|
|
|
ClinVar: RCV000018739
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type IV Ehlers-Danlos syndrome (EDSVASC; 130050), Tromp et al. (1989) found a heterozygous substitution of serine for glycine-790 in type III collagen. The mutation probably made the procollagen molecule unusually sensitive to proteases because it caused local unfolding of the triple helix and exposed the adjacent arginine residue. This patient had been thought to carry an amino acid insertion because of the slower migration of the pro-alpha chains of type III collagen (Stolle et al., 1985). The clinical features were reported by Pyeritz et al. (1984); the 16-year-old man presented with a right neck mass that developed suddenly at age 14 after forceful spitting and was shown by angiography to be an aneurysm arising at the origin of the right subclavian. His father died after several operations for spontaneous massive intraabdominal hemorrhage. His aunt died of a rent in the abdominal aorta that occurred spontaneously in the first stage of labor. His uncle required colostomy after spontaneous rupture of the bowel and died several years later of spontaneous rupture of the splenic artery. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY619ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs113485686,
|
|
|
|
|
|
|
|
ClinVar: RCV000087507, RCV001093160, RCV002444435
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 37-year-old female captain in the U. S. Air Force who was studied because several relatives had died of ruptured aortic aneurysms (see EDSVASC; 130050), Kontusaari et al. (1990) found heterozygosity for a single base mutation that converted the codon for glycine-619 in type III procollagen to arginine. The collagen produced had decreased temperature for thermal unfolding. The same mutation was found in DNA extracted from pathologic specimens from her mother, who had died at the age of 34 of aortic aneurysm, and a maternal aunt, who died at the age of 55 of the same cause. DNA from samples of saliva showed that the woman's daughter, son, brother, and an aunt also had the mutation. Kuivaniemi et al. (1991) described the same family in brief. The proband had a tendency to bruise easily, and the surgeon who had previously removed her appendix noted that her tissues seemed friable and bled easily, with the loss of 1 liter of blood during that operation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY883ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912914,
|
|
|
|
|
|
|
|
ClinVar: RCV000018741
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a father and daughter with Ehlers-Danlos syndrome type IV (EDSVASC; 130050), Tromp et al. (1989) identified a G-to-A transition in the COL3A1 gene, resulting in a gly883-to-asp (G883D) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 EHLERS-DANLOS SYNDROME, VASCULAR TYPE, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS20DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509370,
|
|
|
|
|
|
|
|
ClinVar: RCV000087697, RCV001184539, RCV001753421, RCV004532389
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 34-year-old man with a history of thin skin and easy bruisability, who died of massive intrathoracic and intraabdominal hemorrhage (see EDSVASC; 130050), Kontusaari et al. (1990) identified heterozygosity for a substitution of A for G at the first nucleotide of intron 20 in the COL3A1 gene. As a result, the consensus sequence of GT found in most of the introns of eukaryotic genes was converted to AT. At autopsy, no distinct aneurysm or bleeding point was identified, but microscopic sections of aorta revealed an apparent decrease in and disorganization of elastic fibers, and all the abdominal soft tissues appeared to be unusually friable. The proband's father and 1 brother had died of rupture of abdominal and thoracic aneurysms, respectively. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS16DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587779443,
|
|
|
|
|
|
|
|
ClinVar: RCV000018743
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with type IV EDS (EDSVASC; 130050), Kuivaniemi et al. (1990) found a G(+1)-to-A mutation in intron 16, which caused extensive exon skipping. The patient was a 36-year-old pregnant woman who had thin skin with abnormally prominent superficial blood vessels. She had a minimal degree of joint hypermobility and a history of 2 surgical procedures for correction of patellar dislocations. Cesarean section was performed because of premature ruptured membranes. The infant developed severe bleeding and died 4 hours later. The patient's tissues appeared to be unusually friable at surgery. The only other affected relative was a brother who died at the age of 20 of a ruptured cervical artery sustained during karate practice. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS42DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869312034,
|
|
|
|
|
|
|
|
ClinVar: RCV000018744
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kuivaniemi et al. (1990) found that a G-to-A mutation at the first nucleotide in intron 42 caused deficient use of a single cryptic splice site. The patient was a 22-year-old woman who died suddenly from a ruptured dissecting aortic aneurysm. She had thin and transparent skin with abnormally prominent blood vessels. She had mild hypermobility of the joints, congenital dislocation of the hips, and a torn knee ligament. She had a history of bouts of abdominal pain and urinary tract infections as well as pyloric stenosis in infancy. There was no evidence of EDS in other members of the family, including an 11-month-old daughter. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 COLLAGEN TYPE III POLYMORPHISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, ALA531THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1800255,
|
|
|
|
|
|
gnomAD: rs1800255,
|
|
|
|
|
|
ClinVar: RCV000018745, RCV000177438, RCV000395000, RCV000775991, RCV001588818, RCV001811188, RCV002276559, RCV002496406
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Zafarullah et al. (1990) demonstrated a change from GCT (ala) to ACT (thr) in the codon for amino acid 531 of the triple helix. On the basis of a study of 122 chromosomes, the frequency of the alanine allele was 0.68. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS37DS, G-T, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509371,
|
|
|
|
|
|
|
|
ClinVar: RCV000018746
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Wu et al. (1993) identified a G-to-T transversion at the fifth nucleotide of intron 37 of the COL3A1 gene from a woman with EDS4 (EDSVASC; 130050) who had died suddenly of rupture of a thoracic aorta in the age of 47. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, 7.5-KB DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000018747
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with severe EDS IV (EDSVASC; 130050), Superti-Furga et al. (1988) showed that fibroblasts synthesized normal-sized and shortened type III procollagen chains. Comparison of the triple-helical domains of these 2 peptides and coarse Southern blot analysis of the patient's DNA suggested a large deletion in the middle portion of the COL3A1 gene. Lee et al. (1991) showed that the structural defect resulted from exon-to-intron recombination that deleted 16 exons of the triple-helical coding domain of COL3A1, removing about 7.5 kb and 1,026 nucleotides of coding sequence from the message. The deleted segment extended from the thirteenth nucleotide of exon 9 to within a DNA sequence of intron 24, which is composed of a series of dinucleotide repeats. Using PCR, Lee et al. (1991) tested the polymorphic nature of this dinucleotide repeat. At least 4 distinct allelic forms were found. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY910VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912915,
|
|
|
|
|
|
|
|
ClinVar: RCV000018749
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Richards et al. (1991) found a G-to-T mutation in the COL3A1 gene, resulting in a substitution of glycine-910 by valine. Nuytinck et al. (1992) described the patient and laboratory findings in detail. A 54-year-old woman had a lifetime history of easy bruising and recurrent bleeding and hematomas. She had varicose veins of the legs and attacks of superficial phlebitis. On 3 occasions her right shoulder had dislocated spontaneously. Family history was negative. She was only 149 cm tall and had facial features strongly suggestive of EDS IV (EDSVASC; 130050), including prominent eyes with bluish sclerae, a pinched nose, and hypoplastic earlobes. The skin was generally thin and showed a prominent venous pattern but was not hyperextensible. The knees and shins showed atrophic scars and hemosiderin deposits at the sites of old hematomas. There was hyperextensibility of large joints, especially the elbows and knees, but mobility of small joints was within normal limits. At the age of 54 years she developed a perforation of the sigmoid colon for which a sigmoidectomy was performed. The patient's skin fibroblasts produced markedly diminished amounts of type III collagen. Cells obtained from noncutaneous tissues showed 2 forms of type III chains, one normal and one slow migrating. The type III collagen molecules containing mutant alpha chains were overmodified, had a lower thermal stability, and were poorly secreted into the extracellular medium. Nuytinck et al. (1992) pointed out that the mutant molecules were preferentially retained within cultured cells, presumably destined for degradation. By reducing the incubation temperature of the cells, the secretion of type III collagen was increased considerably. For this reason, cooler superficial tissues, such as skin, may be less dramatically affected than internal organs. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS25DS, G-T, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509372,
|
|
|
|
|
|
|
|
ClinVar: RCV000018752
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of EDS IV (EDSVASC; 130050), Lee et al. (1991) demonstrated a G-to-T transversion at position 5 of the splice donor site of intron 25 in one of the patient's COL3A1 genes. The splicing mutation resulted in skipping of exon 25. As in previously characterized splicing mutations in other collagen genes, lowering the temperature at which the patient's fibroblasts were incubated nearly abolished exon skipping. The mutation was first localized by amplifying the reverse transcribed product in several overlapping fragments by use of PCR. Amplified products spanning exon 24-26 sequences displayed 2 distinct fragments, one of normal size and the other lacking the 99 basepairs of exon 25. As part of the study, Lee et al. (1991) identified a highly polymorphic, intronic DNA sequence whose different allelic forms could be easily detected by the PCR technique. </p><p>The patient studied by Lee et al. (1991) had suffered since boyhood from easy bruising and episodes of hemorrhage occurring spontaneously or after trivial trauma. Physical examination at age 31 years showed thin, delicate skin with hemosiderotic, atrophic scars as well as paradoxically striking keloids. Superficial veins were easily visible and flexion contractures of the thumb and third finger of the right hand were found. He also had partial right bundle branch block and pulmonary stenosis (confirmed by angiography at age 19 years). He died at age 32 after falling from a bar stool. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS41, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509373,
|
|
|
|
|
|
|
|
ClinVar: RCV000018753
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Sillence et al. (1991) described the clinical features in a patient with EDS IV (EDSVASC; 130050) in whom Cole et al. (1990) found heterozygosity for a G-to-A transition at the splice donor site of intron 41. The mutation resulted in the splicing out of exon 41, which encoded 36 amino acids from glycine-775 to lysine-810 of the triple helical domain of type III collagen. The amount of type III collagen in the dermis was only about 11% of normal. The patient had typical features of the acrogeric form of EDS IV: characteristic facies with pinched nose and thin lips, aesthenic build, thin skin, prominent subcutaneous veins, and senile-appearing hands. Spontaneous bruising, bleeding from the large bowel, constipation, and delayed gastric emptying were other features. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, 27-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509374,
|
|
|
|
|
|
|
|
ClinVar: RCV000018754
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Matton et al. (1982) described a large Belgian family with EDS IV (EDSVASC; 130050) in which Nicholls et al. (1988) showed that the abnormal phenotype was linked to an AvaII polymorphism in the COL3A1. In contrast to most EDS IV patients, fibroblasts from affected members of this family secreted nearly normal amounts of an apparently normal collagen. Although the level of type III collagen secreted was slightly lower than that secreted by control cell lines, the level of COL3A1 mRNA was normal. Richards et al. (1992) localized the mutation in this family to the CB5 peptide of type III collagen by use of both protein and cDNA mapping techniques. Sequence analysis of cDNA demonstrated a 27-bp deletion within exon 37, removing 9 amino acids and maintaining the Gly-X-Y repeat of the collagen helix. Further studies showed that the deletion was present in all affected members and absent in all unaffected members of the kindred. The deletion was flanked by 2 short direct repeats of CTCC; it appeared to have arisen by slipped mispairing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY847GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912916,
|
|
|
|
|
|
|
|
ClinVar: RCV000018755
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members of the family of the patient with spontaneous carotid-cavernous fistula reported by Fox et al. (1988), Richards et al. (1992) demonstrated a G-to-A mutation converting glycine-847 to glutamic acid. The spontaneous carotid-cavernous fistula was successfully embolized and occluded. The mother and only sib had thin skin and joint laxity. The mother died at the age of 50 years from postoperative complications following ruptured bowel. Richards et al. (1992) showed that the mutation must have arisen during embryogenesis of the proband's maternal grandmother who was clinically unaffected but mosaic for the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY1018ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912917,
|
|
|
|
|
|
|
|
ClinVar: RCV000018756, RCV000434900
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 41-year-old woman with arterial ruptures and skin changes characteristic of type IV Ehlers-Danlos syndrome (EDSVASC; 130050), Kontusaari et al. (1992) found a single base substitution in the COL3A1 gene which converted the codon for glycine at amino acid position 1018 to a codon for aspartate. (Amino acid positions were numbered by the convention in which the first glycine of the triple-helical domain of an alpha chain is numbered 1. The number of positions in the mature collagen chain can be converted to positions in the procollagen chain by adding 167.) The glycine mutation markedly decreased the amount of type III procollagen secreted into the medium by cultured skin fibroblasts. The same mutation was found in about 94% of peripheral blood leukocytes of the proband's asymptomatic 72-year-old mother. The mutation was present in 0.0-100% of different samples of hair cells and in about 40% of cells from the oral epithelium. Since the mutated allele was present in cells derived from all 3 germ layers, the results indicated that the mutation arose by the late blastocyst stage of development. The proband had been born prematurely without obvious cause. Her case was reported by Morris (1957) as one of acrogeria; her hands and feet were described as 'emaciated and fleshless with the veins showing through the thin and wrinkled skin.' At the age of 24 years, she had spontaneous rupture of the splenic artery. Two years later she developed recurrent pneumothoraces. At age 28 she had a perinephric hematoma requiring left nephrectomy for control of bleeding. At age 39 a large spontaneous hematoma in her left thigh was thought to represent a venous rupture. The mother had no history of easy bruisability or hemorrhaging and her skin was normal on examination by Morris (1957) and by one of the authors (F.M.P.) in the Kontusaari et al. (1992) report (Pope et al., 1980). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY1006GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912918,
|
|
|
|
|
|
|
|
ClinVar: RCV000018757
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using denaturing gradient gel electrophoresis (DGGE), Johnson et al. (1992) identified heterozygosity for a GGA-to-GAA transition in codon 1006 creating a new HinfI restriction site and substitution of glutamic acid for glycine at residue 1006 of the COL3A1 chain. The patient had typical acrogeric EDS IV (EDSVASC; 130050) and had been reported by Roberts et al. (1984) as mimicking nonaccidental injury, i.e., child abuse. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY1021GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs112456072,
|
|
|
|
|
|
|
|
ClinVar: RCV000018758
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Narcisi et al. (1993) described a 24-year-old woman with type IV Ehlers-Danlos syndrome (EDSVASC; 130050) and sudden death due to 'massive' aortic dissection arising about 0.5 cm above the aortic ring and extending to the aortic bifurcation. The aneurysm had ruptured through the left lateral wall of the abdominal aorta, producing a large retroperitoneal hemorrhage. The presence of atrophy of all finger pulps with acroosteolysis and loss of the first and second fingernails on the left hand were commented on. Narcisi et al. (1993) found a single base mutation in exon 49 of the COL3A1 gene which caused a gly-to-glu substitution at amino acid residue 1021. </p><p>Pepin et al. (2000) found the G1021E mutation in 2 of 135 unrelated EDS IV families. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY136ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906557,
|
|
|
|
|
|
|
|
ClinVar: RCV000018759
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large study involving sequencing of cDNA for the triple-helical domain of type III procollagen in 54 patients with aortic aneurysms, Tromp et al. (1993) found only one with a mutation of likely functional significance: a substitution of arginine for an obligatory glycine at amino acid position 136. The nucleotide change was a transition from GGG to AGG at position 907. The patient was an 18-year-old black male without any prior relevant medical history. He had suddenly developed paraparesis and bilateral loss of pulses below the waist (Gatalica et al., 1992). An aortogram disclosed a dissecting aneurysm of the entire aorta and obstruction of blood flow below the renal arteries. Autopsy demonstrated the dissecting aneurysm and generalized fibromuscular dysplasia (135580). His father had died at the age of 36 years in a car accident and no affected relatives were available for DNA testing. His mother did not have the mutation, but 3 unaffected sibs were found to have the same mutation. Ultrasound examination of the aorta in these sibs, aged 21, 20, and 16 years, did not reveal any abnormalities. </p><p>Byers (1998) was of the opinion that the patient with the G136R mutation in COL3A1 actually represented an example of EDS type IV (EDSVASC; 130050). Schievink and Limburg (1989) described a 46-year-old woman with Ehlers-Danlos syndrome type IV who suffered an aneurysmal subarachnoid hemorrhage. Angiographic abnormalities in the carotid arteries resembling fibromuscular dysplasia were described. In an angiographic study of the cervical arteries in 102 patients with aneurysmal subarachnoid hemorrhage, George et al. (1989) found arterial wall irregularities consistent with fibromuscular dysplasia in 29 patients, coiling or kinking in 21 patients, and a combination of both angiographic abnormalities in an additional 7 patients. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS7DS, T-C, +6
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509375,
|
|
|
|
|
|
|
|
ClinVar: RCV000018760
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 32-year-old woman with type IV EDS (EDSVASC; 130050), Lloyd et al. (1993) identified a T-to-C transition at nucleotide +6 in the donor splice site of IVS7 of the COL3A1 gene. This resulted in skipping of exon 7, which is the most 5-prime of the completely triple helix encoding exons, since exon 6 of the COL3A1 gene codes partially for the N-peptidase cleavage site and the first 9 amino acids of the triple helix. The patient, who suffered from a de novo mutation, was classified as having a nonacrogeric form of this disorder. She came to medical attention because of infection of the right kidney and intermittent claudication of the left leg. Angiography showed occlusion of the right renal artery and stenosis of the left iliac artery with possible dissection. Four years previously she suffered perforation of the bowel and had varicose veins since her teens. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY637SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912920,
|
|
|
|
|
|
|
|
ClinVar: RCV000018761
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Narcisi et al. (1994) described a family in which the proband was a 4-year-old boy with generalized joint laxity and minor skin extensibility without scarring. Four other members of the family were affected: his 36-year-old father, a younger brother, a 39-year-old paternal uncle, and the 64-year-old paternal grandmother. The disorder in the family was diagnosed as EDS III (130020)/articular hypermobility syndrome (147900); the latter is not clearly distinguished from EDS III. Analysis of cultured fibroblasts from the affected members demonstrated intracellular retention of type III collagen. This is usually a biochemical characteristic of EDS IV (130050), caused by mutations of COL3A1. Analysis of the cDNA sequence in this family revealed a glycine-to-serine mutation at amino acid residue 637 of the type III collagen molecule. This was confirmed by allele-specific oligonucleotide hybridization against amplified genomic DNA. There was no history of vascular fragility in the family and there were no other clinical signs usually associated with EDS IV such as thin skin and characteristic facial features. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS27DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509376,
|
|
|
|
|
|
|
|
ClinVar: RCV000018762
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Thakker-Varia et al. (1995) identified a unique mutation in the COL3A1 gene in a 22-year-old woman who was the only 1 of 5 sibs affected by type IV EDS (EDSVASC; 130050). Her mother died at age 35 from a massive abdominal hemorrhage after a minor car accident and was probably affected. During delivery of a seemingly unaffected daughter, the proband experienced protracted bleeding and significant tear damage of the pelvic tissues. The skin was soft and hyperextensible around the elbows, but not on the upper thorax, where it was thin and translucent. No evident joint hypermobility was noted, while marked, diffuse bruising and pigmented scars were present. The facies was characteristic, with a thin nose, thin lips, and fine wrinkles around the mouth. The patient's fibroblasts produced decreased amounts of type III procollagen despite normal levels of translatable type III procollagen mRNA. S1 nuclease analysis of the type III procollagen mRNA indicated a defect in the region encoding exon 27. Sequence analysis of cDNA clones and genomic fragments generated by PCR amplification demonstrated that sequences representing exon 27 were absent from 3 out of 5 cDNA clones and that a G at the +5 position of the splice donor site in intron 27 was changed to an A in 1 allele of their patient's COLA3A1 gene. Thakker-Varia et al. (1995) could demonstrate that mRNA species containing and lacking exon 27 were produced in a 1:1 ratio. However, pulse label and chase experiments in the presence or absence of brefeldin A indicated that most of the type III procollagen molecules synthesized by the patient's fibroblasts were not secreted into the medium but were degraded in the endoplasmic reticulum-Golgi compartment by a nonlysosomal mechanism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY499ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912921,
|
|
|
|
|
|
|
|
ClinVar: RCV000018763
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>McGrory et al. (1996) found heterozygosity for a G-to-A transition at nucleotide 1997, resulting in a G499D substitution in type III collagen in a 48-year-old man with the acrogeric form of type IV EDS (EDSVASC; 130050). The patient had been reported by Pope et al. (1988). The age of onset of his acrogeric appearance was uncertain, but with increasing age it had become more severe. At 49 years of age, he died from massive pulmonary emboli and acute myocardial infarction. The man had only 1 son who was clinically normal at 15 years of age. However, he showed heterozygosity for the same mutation. </p><p>Pepin et al. (2000) found the G499D mutation in 2 of 135 unrelated EDS IV families. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY793VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912922,
|
|
|
|
|
|
gnomAD: rs121912922,
|
|
|
|
|
|
ClinVar: RCV000018764
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Tromp et al. (1995) found a G-to-T transition at position 2879 (exon 41) in the COL3A1 gene that changed the codon for glycine-793 to a codon for valine in a mother and her son with Ehlers-Danlos syndrome type IV (EDSVASC; 130050). Clinical details of this family were reported by De Paepe et al. (1989). This substitution most likely disrupted the triple-helical structure of the protein and made it less stable. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY415SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912923,
|
|
|
|
|
|
|
|
ClinVar: RCV000018765, RCV000181088, RCV000616909, RCV004528122
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Anderson et al. (1997) stated that more than 40 mutations in the type III procollagen gene had been described in patients with EDS IV (EDSVASC; 130050). These mutations included missense mutations, splice site mutations, and deletions. They reported a G-to-A transition that altered codon 415 from GGT (glycine) to AGT (serine). They stated that the mutation results in impaired secretion and decreased thermal stability type III procollagen. </p><p>Pepin et al. (2000) found the G415S mutation in 2 of 135 unrelated EDS IV families. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0025 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY934GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912924,
|
|
|
|
|
|
|
|
ClinVar: RCV000018766
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>McGrory et al. (1996) found a 3302G-A transition in exon 46 of the COL3A1 cDNA resulting in a gly934-to-glu substitution. The mutation resulted in a severe deficiency of type III collagen in fibroblast cultures and dermis. Dilatation of the endoplasmic reticulum of the dermal fibroblast was probably due to failure of these cells to secrete type III collagen molecules containing one or more mutant alpha-1(III) chains. The dermal collagen fibrils were narrow, but their constituent type III collagen molecules contained predominantly normal alpha-1(III) chains. As a result, the major effect of the mutation was to reduce severely the amount of normal type III collagen available for the formation of collagen fibrils in the extracellular matrix. The 50-year-old patient studied by McGrory et al. (1996) had hypermobile joints with recurrent dislocations of the shoulders, thumbs, and patellae, skin laxity, and easy bruising. At the age of 28 she had an aortic thrombosis and at 50 she developed proptosis and was shown to have carotico-cavernous fistulae and dilatations of the internal carotid and vertebral arteries. Her sister had similar cutaneous and joint anomalies, and had a myocardial infarction at 34 years of age. The proband's mother, aged 78 years, had joint hypermobility and skin laxity suggestive of EDS IV (EDSVASC; 130050). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0026 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY571SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912925,
|
|
|
|
|
|
|
|
ClinVar: RCV000018767, RCV003329233
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a large kindred with EDS type IV (EDSVASC; 130050) in which 15 members were affected in 4 generations, Gilchrist et al. (1999) identified a G-to-A transition that resulted in a gly571-to-ser substitution in the triple helical domain of the products of one COL3A1 allele. This family had a milder phenotype than that typically associated with EDS IV. Clinical presentation in some of the affected members occurred at a later age than usual. Longevity was longer than that seen in many families, and there was less pregnancy-associated morbidity or mortality than that found in some families. The authors suggested that some clinical aspects of EDS IV may be related to the nature of the mutation and its effect on the behavior of the protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0027 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY16SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912926,
|
|
|
|
|
|
|
|
ClinVar: RCV000018768, RCV000479050, RCV001186047
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 7 of 135 unrelated families, Pepin et al. (2000) found a gly16-to-ser mutation in the COL3A1 gene as the cause of type IV EDS (EDSVASC; 130050). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0028 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY82ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912927,
|
|
|
|
|
|
|
|
ClinVar: RCV000018748, RCV001170886
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 of 135 unrelated families, Pepin et al. (2000) found a gly82-to-asp mutation in the COL3A1 gene as the cause of type IV EDS (EDSVASC; 130050). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0029 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY373ARG
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000018750
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 of 135 unrelated families, Pepin et al. (2000) found a gly373-to-arg mutation in the COL3A1 gene as the cause of type IV EDS (EDSVASC; 130050). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0030 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY385GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912928,
|
|
|
|
|
|
|
|
ClinVar: RCV000018751
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 of 135 unrelated families, Pepin et al. (2000) found a gly385-to-glu mutation in the COL3A1 gene as the cause of type IV EDS (EDSVASC; 130050). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0031 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY297ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1553507557,
|
|
|
|
|
|
|
|
ClinVar: RCV000018769
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and son with EDS type IV (EDSVASC; 130050) and unusual congenital anomalies, Kroes et al. (2003) identified an 889G-A transition in the COL3A1 gene, resulting in a gly297-to-arg (G297R) substitution. The mother had amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephalus; the son had esophageal atresia and hydrocephalus. The patients were also anomalous in that protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. Kroes et al. (2003) referred to another patient in which the collagen profile was normal on electrophoresis but a pathogenic mutation was identified (120180.0032). In that case also the phenotype was atypical and the mutation was located relatively near the N terminus of the protein. (The numbering originally used by Kroes et al. (2003) started at the collagen part of the gene, with the first glycine codon of the triple helix, and the mutation was stated to be a 388G-A transition resulting in a GLY130ARG (G130R) substitution.) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0032 EHLERS-DANLOS SYNDROME, VASCULAR TYPE, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, IVS8DS, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587779671,
|
|
|
|
|
|
|
|
ClinVar: RCV000087663, RCV000788733, RCV002354287
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Pinto et al. (2000) described a splice site mutation in the COL3A1 gene (IVS8+5G-A) in a 40-year-old man who did not show the classic phenotype of EDS IV (EDSVASC; 130050). He had no skin or joint abnormalities. Examination showed necrotic degeneration in vascular walls, aneurysms, and medial degeneration in several tissues. Another notable feature was the finding of a normal collagen profile on electrophoresis, despite the DNA abnormality. The patient had a history of bilateral renal-artery stenosis and spontaneous hematothorax. Laparotomy for possible appendicitis revealed a pulseless ileocolic artery and an ischemic colon. Resection of ischemic intestine was performed on 2 successive days; on the third day laparotomy revealed a ruptured abdominal aorta (from which the patient ultimately died) and 6 days later laparotomy revealed a ruptured gallbladder. </p><p>Byers et al. (2000) stated that their series of patients with EDS IV included 2 with the IVS8+5G-A mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0033 EHLERS-DANLOS SYNDROME, VASCULAR TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY883VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912914,
|
|
|
|
|
|
|
|
ClinVar: RCV000018771
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 24-year-old woman with atypical features of EDS type IV (EDSVASC; 130050) and her mother, Palmeri et al. (2003) identified a 3149G-T transversion in exon 44 of the COL3A1 gene, resulting in a gly883-to-val (G883V) mutation. The phenotypically normal maternal grandmother was found to be mosaic for this mutation. The proposita suffered from chronic pain in the legs and progressive retraction of her left Achilles tendon causing talipes equinovarus. She had suffered from painful nocturnal cramps of both legs since the age of 10 years. She had an acrogeric face and flexion contractures of the interphalangeal joints of the fourth and fifth fingers. The muscular features were initially considered suggestive of distal X-linked arthrogryposis multiplex congenita (301830). The mother suffered an ischemic stroke at the age of 43 years and died suddenly at the age of 48 years. A sister of the mother died at the age of 40 years of a ruptured abdominal aortic aneurysm. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0034 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, 1-BP DUP, 479T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397509377,
|
|
|
|
|
|
|
|
ClinVar: RCV000022485
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 11-year-old French girl, born of consanguineous parents, with polymicrogyria with vascular-type EDS (PMGEDSV; 618343), Plancke et al. (2009) identified a homozygous 1-bp duplication (c.479dupT) in exon 5 of the COL3A1 gene, resulting in a frameshift and premature termination (Lys161GlnfsTer45). The transmission pattern was consistent with autosomal recessive inheritance. She had thin, translucent skin with marked scars, early-onset varicose veins, hypermobility of the small joints, gingival recession, hypoplastic nasal alae, and think lips. She also had delayed motor development, absence epilepsy, and diffuse cortical dysplasia. She presented with acute abdominal pain, and surgery revealed extreme intestinal, arterial, and tissue fragility. She died after surgery from multiple perforations, suture breakdown, and total evisceration. The patient's unaffected parents were each heterozygous for the mutation. The mutation was shown to result in nonsense-mediated decay. The lack of phenotype in the parents was discussed by Plancke et al. (2009) in light of the study by Schwarze et al. (2001), who reported a severe phenotype resulting from COL3A1 haploinsufficiency due to truncating mutations. Plancke et al. (2009) noted that heterozygous Col3a1-null mice have no phenotype (Liu et al., 1997), similar to the parents of their French patient. Plancke et al. (2009) also noted that the nonsense-mediated mRNA process is inefficient and, in the cases of Schwarze et al. (2001), could have resulted in the production of a small amount of protein with dominant-negative effects. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0035 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, ARG596TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587779527,
|
|
|
|
|
|
|
|
ClinVar: RCV000497775, RCV000758208, RCV000763468
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, with polymicrogyria with vascular-type EDS (PMGEDSV; 618343), Jorgensen et al. (2015) identified compound heterozygous mutations in the COL3A1 gene: a c.1786C-T transition in exon 26, resulting in an arg596-to-ter (R596X) substitution, and a c.3851G-A transition in exon 50, resulting in a gly1284-to-glu (G1284E; 120180.0036) substitution at a highly conserved residue in a triple helical domain. The c.1786C-T variant was predicted to result in nonsense-mediated mRNA decay and a null allele. Patient fibroblasts showed a reduced amount of type III procollagen, the chains of which all had an abnormal electrophoretic mobility compared to controls, suggestive of overmodification of the protein possibly resulting from slow folding of the triple helical domain. Fibroblasts from the mother, who was heterozygous for the G1284E variant, showed a small amount of abnormal type III procollagen. The mother had subtle features of the disorder, including small joint hypermobility, aortic elasticity, emphysema, and thin, translucent skin. The father, who was heterozygous for the R596X variant, had no clinical features suggestive of EDS. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0036 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, GLY1284GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587779528,
|
|
|
|
|
|
|
|
ClinVar: RCV000087466, RCV000758209
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.3851G-A transition in exon 50 of the COL3A1 gene, resulting in a gly1284-to-glu (G1284E) substitution, that was found in compound heterozygous state in 2 sibs with polymicrogyria with vascular-type EDS (PMGEDSV; 618343) by Jorgensen et al. (2015), see 120180.0035. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0037 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, ARG428TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1576465155,
|
|
|
|
|
|
|
|
ClinVar: RCV000758210, RCV002493385, RCV003523024, RCV004820102
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 3-year-old girl with polymicrogyria with vascular-type EDS (PMGEDSV; 618343), Horn et al. (2017) identified compound heterozygous mutations in the COL3A1 gene: a c.1281C-T transition (c.1281C-T, NM_000090.3) in exon 19, resulting in an arg428-to-ter (R428X) substitution, and a 1-bp deletion (c.2057delC; 120180.0038) in exon 31, resulting in a frameshift and premature termination (Pro686LeufsTer105). Neither variant was found in the dbSNP, 1000 Genomes Project, ExAC, or gnomAD databases. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to cause nonsense-mediated mRNA decay and an inability to contribute to a triple helix, consistent with a complete loss of function. Each unaffected parent was heterozygous for 1 of the mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0038 POLYMICROGYRIA WITH VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, 1-BP DEL, 2057C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1559058482,
|
|
|
|
|
|
|
|
ClinVar: RCV000758211
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp deletion (c.2057delC, NM_000090.3) in the COL3A1 gene, resulting in a frameshift and premature termination (Pro686LeufsTer105), that was found in compound heterozygous state in a patient with polymicrogyria with vascular-type EDS (PMGEDSV; 618343) by Horn et al. (2017), see 120180.0037. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0039 POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL3A1, PRO49ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1234344050,
|
|
|
|
|
|
gnomAD: rs1234344050,
|
|
|
|
|
|
ClinVar: RCV000758212, RCV000853487, RCV001253309
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with polymicrogyria without vascular-type Ehlers-Danlos syndrome (PMGEDSV; 618343), who were born of unrelated parents from the same mountain village in Chechnya, Vandervore et al. (2017) identified a homozygous c.145C-G transversion (c.145C-G, NM_000090.3) in exon 2 of the COL3A1 gene, resulting in a pro49-to-ala (P49A) substitution at a highly conserved residue. The variant, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP or ExAC databases. The variant is located in a von Willebrand factor C domain that may mediate interaction with GPR56 (604110) in the N terminus of the pro-COL3A1 chain; this region is usually cleaved from the intact type III collagen domain. Patient fibroblasts showed increased levels of COL3A1 mRNA, but normal amounts of the COL3A1 protein. Immunoprecipitation assays showed no significant differences in the COL3A1 interaction with GPR56, although there was a slight alteration of binding capacity. Vandervore et al. (2017) suggested that there may be tissue-specific effects of the mutation that result in overstimulation of neuronal migration, or that the mutation may cause altered signaling patterns involved in pial basement membrane assembly. </p><p>Horn et al. (2017) identified the same homozygous P49A mutation in 2 sibs, born of unrelated parents from Chechnya and Ingushetia, with polymicrogyria without vascular-type Ehlers-Danlos syndrome. Each unaffected parent was heterozygous for the mutation. Functional studies of the variant and studies of patient cells were not performed, but the variant was classified as pathogenic or likely pathogenic according to ACMG criteria. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Dalgleish et al. (1985)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Anderson, D. W., Thakker-Varia, S., Tromp, G., Kuivaniemi, H., Stolle, C. A.
|
|
<strong>A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Mutat. 9: 62-63, 1997.
|
|
|
|
|
|
[PubMed: 8990011]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Byers, P. H., Schwarze, U., Pepin, M.
|
|
<strong>Ehlers-Danlos syndrome type IV. (Letter)</strong>
|
|
New Eng. J. Med. 343: 368 only, 2000.
|
|
|
|
|
|
[PubMed: 10928899]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM200008033430514]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Byers, P. H.
|
|
<strong>Personal Communication.</strong>
|
|
Seattle, Wash. 9/23/1993.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Byers, P. H.
|
|
<strong>Personal Communication.</strong>
|
|
Seattle, Wash. 12/16/1998.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cole, W. G., Chiodo, A. A., Lamande, S. R., Janeczko, R., Ramirez, F., Dahl, H.-H. M., Chan, D., Bateman, J. F.
|
|
<strong>A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
J. Biol. Chem. 265: 17070-17077, 1990.
|
|
|
|
|
|
[PubMed: 2145268]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cutting, G. R., McGinniss, M. J., Kasch, L. M., Tsipouras, P., Antonarakis, S. E.
|
|
<strong>Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35 kb region on human chromosome 2.</strong>
|
|
Genomics 8: 407-410, 1990.
|
|
|
|
|
|
[PubMed: 1979060]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90302-b]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dalgleish, R., Woodhouse, M., Reeders, S.
|
|
<strong>An RFLP associated with the human type III collagen gene (COL3A1).</strong>
|
|
Nucleic Acids Res. 13: 4609, 1985.
|
|
|
|
|
|
[PubMed: 4011449]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/13.12.4609]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Paepe, A., Thaler, B., Van Gijsegem, M., Van Hoecke, D., Matton, M.
|
|
<strong>Obstetrical problems in patients with Ehlers-Danlos syndrome type IV: a case report.</strong>
|
|
Europ. J. Obstet. Gynec. Reprod. Biol. 33: 189-193, 1989.
|
|
|
|
|
|
[PubMed: 2583342]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0028-2243(89)90214-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Emanuel, B. S., Cannizzaro, L. A., Seyer, J. M., Myers, J. C.
|
|
<strong>Human alpha-1(III) and alpha-2(V) procollagen genes are located on the long arm of chromosome 2.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 3385-3389, 1985.
|
|
|
|
|
|
[PubMed: 3858826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.82.10.3385]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fox, R., Pope, F. M., Narcisi, P., Nicholls, A. C., Kendall, B. E., Hourihan, M. D., Compston, D. A. S.
|
|
<strong>Spontaneous carotid cavernous fistula in Ehlers-Danlos syndrome.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 51: 984-986, 1988.
|
|
|
|
|
|
[PubMed: 3204406]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.51.7.984]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gatalica, Z., Gibas, Z., Martinez-Hernandez, A.
|
|
<strong>Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia.</strong>
|
|
Hum. Path. 23: 586-588, 1992.
|
|
|
|
|
|
[PubMed: 1568754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0046-8177(92)90138-s]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
George, B., Mourier, K. L., Gelbert, F., Reizine, D., Raggueneau, J. L.
|
|
<strong>Vascular abnormalities in the neck associated with intracranial aneurysms.</strong>
|
|
Neurosurgery 24: 499-508, 1989.
|
|
|
|
|
|
[PubMed: 2710295]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1227/00006123-198904000-00003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gilchrist, D., Schwarze, U., Shields, K., MacLaren, L., Bridge, P. J., Byers, P. H.
|
|
<strong>Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.</strong>
|
|
Am. J. Med. Genet. 82: 305-311, 1999.
|
|
|
|
|
|
[PubMed: 10051163]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamel, B. C. J., Pals, G., Engels, C. H. A. M., van den Akker, E., Boers, G. H. J., van Dongen, P. W. J., Steijlen, P. M.
|
|
<strong>Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical spectrum.</strong>
|
|
Clin. Genet. 53: 440-446, 1998.
|
|
|
|
|
|
[PubMed: 9712532]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1998.tb02592.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 10/28/2013.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Horn, D., Siebert, E., Seidel, U., Rost, I., Mayer, K., Abou Jamra, R., Mitter, D., Kornak, U.
|
|
<strong>Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.</strong>
|
|
Am. J. Med. Genet. 173A: 2534-2538, 2017.
|
|
|
|
|
|
[PubMed: 28742248]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.38345]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huerre-Jeanpierre, M., Mattei, M.-G., Weil, D., Grzeschik, K. H., Chu, M.-L., Sangiorgi, F. O., Sobel, M. E., Ramirez, F., Junien, C.
|
|
<strong>Further evidence for the dispersion of the human fibrillar collagen genes.</strong>
|
|
Am. J. Hum. Genet. 38: 26-37, 1986.
|
|
|
|
|
|
[PubMed: 3004202]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Janeczko, R. A., Ramirez, F.
|
|
<strong>Nucleotide and amino acid sequences of the entire human alpha-1(III) collagen.</strong>
|
|
Nucleic Acids Res. 17: 6742, 1989.
|
|
|
|
|
|
[PubMed: 2780304]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/17.16.6742]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jarvis, G. E., Raynal, N., Langford, J. P., Onley, D. J., Andrews, A., Smethurst, P. A., Farndale, R. W.
|
|
<strong>Identification of a major GpVI-binding locus in human type III collagen.</strong>
|
|
Blood 111: 4986-4996, 2008.
|
|
|
|
|
|
[PubMed: 18305222]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood-2007-08-108472]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jeong, S.-J., Li, S., Luo, R., Strokes, N., Piao, X.
|
|
<strong>Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.</strong>
|
|
PLoS One 7: e29767, 2012. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 22235340]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1371/journal.pone.0029767]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Johnson, P. H., Richards, A. J., Pope, F. M., Hopkinson, D. A.
|
|
<strong>A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.</strong>
|
|
J. Inherit. Metab. Dis. 15: 426-430, 1992.
|
|
|
|
|
|
[PubMed: 1357232]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02435995]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jorgensen, A., Fagerheim, T., Rand-Hendriksen, S., Lunde, P. I., Vorren, T. O., Pepin, M. G., Leistritz, D. F., Byers, P. H.
|
|
<strong>Vascular Ehlers-Danlos syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.</strong>
|
|
Europ. J. Hum. Genet. 23: 796-802, 2015.
|
|
|
|
|
|
[PubMed: 25205403]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2014.181]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kontusaari, S., Tromp, G., Kuivaniemi, H., Ladda, R. L., Prockop, D. J.
|
|
<strong>Inheritance of an RNA splicing mutation (G(+1) IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Hum. Genet. 47: 112-120, 1990.
|
|
|
|
|
|
[PubMed: 2349939]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kontusaari, S., Tromp, G., Kuivaniemi, H., Romanic, A. M., Prockop, D. J.
|
|
<strong>A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.</strong>
|
|
J. Clin. Invest. 86: 1465-1473, 1990.
|
|
|
|
|
|
[PubMed: 2243125]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114863]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kontusaari, S., Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F. M., Prockop, D. J.
|
|
<strong>Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.</strong>
|
|
Am. J. Hum. Genet. 51: 497-507, 1992.
|
|
|
|
|
|
[PubMed: 1496983]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kroes, H. Y., Pals, G., van Essen, A. J.
|
|
<strong>Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.</strong>
|
|
Clin. Genet. 63: 224-227, 2003. Note: Erratum: Clin. Genet. 64: 375 only, 2003.
|
|
|
|
|
|
[PubMed: 12694234]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00047.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kuivaniemi, H., Kontusaari, S., Tromp, G., Zhao, M., Sabol, C., Prockop, D. J.
|
|
<strong>Identical G(+1)-to-A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos Syndrome IV: an explanation for exon skipping with some mutations and not others.</strong>
|
|
J. Biol. Chem. 265: 12067-12074, 1990.
|
|
|
|
|
|
[PubMed: 2365710]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kuivaniemi, H., Tromp, G., Prockop, D. J.
|
|
<strong>Genetic causes of aortic aneurysms: unlearning at least part of what the textbooks say.</strong>
|
|
J. Clin. Invest. 88: 1441-1444, 1991.
|
|
|
|
|
|
[PubMed: 1939638]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115452]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kuivaniemi, H., Tromp, G., Prockop, D. J.
|
|
<strong>Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.</strong>
|
|
Hum. Mutat. 9: 300-315, 1997.
|
|
|
|
|
|
[PubMed: 9101290]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, B., D'Alessio, M., Vissing, H., Ramirez, F., Steinmann, B., Superti-Furga, A.
|
|
<strong>Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Hum. Genet. 48: 511-517, 1991.
|
|
|
|
|
|
[PubMed: 1998337]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, B., Vitale, E., Superti-Furga, A., Steinmann, B., Ramirez, F.
|
|
<strong>G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
J. Biol. Chem. 266: 5256-5259, 1991.
|
|
|
|
|
|
[PubMed: 1672129]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Limongi, M. Z., Pelliccia, F., Rocchi, A.
|
|
<strong>Assignment of the human nebulin gene (NEB) to chromosome band 2q24.2 and the alpha-1 (III) collagen gene (COL3A1) to chromosome band 2q32.2 by in situ hybridization: the FRA2G common fragile site lies between the two genes in the 2q31 band.</strong>
|
|
Cytogenet. Cell Genet. 77: 259-260, 1997.
|
|
|
|
|
|
[PubMed: 9284930]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000134590]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, X., Wu, H., Byrne, M., Krane, S., Jaenisch, R.
|
|
<strong>Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.</strong>
|
|
Proc. Nat. Acad. Sci. 94: 1852-1856, 1997.
|
|
|
|
|
|
[PubMed: 9050868]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.94.5.1852]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lloyd, J., Narcisi, P., Richards, A., Pope, F. M.
|
|
<strong>A T(+6) to C(+6) mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.</strong>
|
|
J. Med. Genet. 30: 376-380, 1993.
|
|
|
|
|
|
[PubMed: 8320698]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.30.5.376]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matton, M. T., De Paepe, A., De Keyser, F., Francois, B.
|
|
<strong>Unusual familial manifestation of Ehlers-Danlos syndrome. In: Papadatos, C. J.; Bartsocas, C. H. S.: Skeletal Dysplasias.</strong>
|
|
New York: Alan R. Liss (pub.) 1982. Pp. 243-257.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McGrory, J., Costa, T., Cole, W. G.
|
|
<strong>A novel G499D substitution in the alpha-1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Mutat. 7: 59-60, 1996.
|
|
|
|
|
|
[PubMed: 8664902]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<59::AID-HUMU8>3.0.CO;2-K]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McGrory, J., Weksberg, R., Thorner, P., Cole, W. G.
|
|
<strong>Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen.</strong>
|
|
Clin. Genet. 50: 442-445, 1996.
|
|
|
|
|
|
[PubMed: 9147870]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb02709.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mizuno, K., Boudko, S, Engel, J., Bachinger, H. P.
|
|
<strong>Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.</strong>
|
|
J. Biol. Chem. 288: 19166-19176, 2013.
|
|
|
|
|
|
[PubMed: 23645670]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M113.462002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morris, D.
|
|
<strong>Acrogeria.</strong>
|
|
J. Roy. Soc. Med. 50: 330-331, 1957.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mudryj, M., Merry, D. E., de Crombrugghe, B., McBride, O. W.
|
|
<strong>Human collagen III (COL3A1) is on chromosome 2q. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 704, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Narcisi, P., Richards, A. J., Ferguson, S. D., Pope, F. M.
|
|
<strong>A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637-to-serine substitution in type III collagen.</strong>
|
|
Hum. Molec. Genet. 3: 1617-1620, 1994.
|
|
|
|
|
|
[PubMed: 7833919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.9.1617]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Narcisi, P., Wu, Y., Tromp, G., Earley, J. J., Richards, A. J., Pope, F. M., Kuivaniemi, H.
|
|
<strong>Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Med. Genet. 46: 278-283, 1993.
|
|
|
|
|
|
[PubMed: 8098182]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320460308]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nicholls, A. C., De Paepe, A., Narcisi, P., Dalgleish, R., De Keyser, F., Matton, M., Pope, F. M.
|
|
<strong>Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree.</strong>
|
|
Hum. Genet. 78: 276-281, 1988.
|
|
|
|
|
|
[PubMed: 3162228]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00291676]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nuytinck, L., Narcisi, P., Nicholls, A., Renard, J. P., Pope, F. M., De Paepe, A.
|
|
<strong>Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.</strong>
|
|
J. Med. Genet. 29: 375-380, 1992.
|
|
|
|
|
|
[PubMed: 1619632]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.29.6.375]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Palmeri, S., Mari, F., Meloni, I., Malandrini, A., Ariani, F., Villanova, M., Pompilio, A., Schwarze, U., Byers, P. H., Renieri, A.
|
|
<strong>Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism.</strong>
|
|
Clin. Genet. 63: 510-515, 2003.
|
|
|
|
|
|
[PubMed: 12786757]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00075.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P. H.
|
|
<strong>Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.</strong>
|
|
New Eng. J. Med. 342: 673-680, 2000. Note: Erratum: New Eng. J. Med. 344: 392 only, 2001.
|
|
|
|
|
|
[PubMed: 10706896]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM200003093421001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pinto, Y. M., Pals, G., Zijlstra, J. G., Tulleken, J. E.
|
|
<strong>Ehlers-Danlos syndrome type IV. (Letter)</strong>
|
|
New Eng. J. Med. 343: 366-368, 2000.
|
|
|
|
|
|
[PubMed: 10928898]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Plancke, A., Holder-Espinasse, M., Rigau, V., Manouvrier, S., Claustres, M., Van Kien, P. K.
|
|
<strong>Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.</strong>
|
|
Europ. J. Hum. Genet. 17: 1411-1416, 2009.
|
|
|
|
|
|
[PubMed: 19455184]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2009.76]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pope, F. M., Nicholls, A. C., Jones, P. M., Wells, R. S., Lawrence, D.
|
|
<strong>EDS IV (acrogeria): new autosomal dominant and recessive types.</strong>
|
|
J. Roy. Soc. Med. 73: 180-186, 1980.
|
|
|
|
|
|
[PubMed: 7230200]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pope, F. M., Nicholls, A. C., Narcisi, P., Temple, A., Chia, Y., Fryer, P., De Paepe, A., De Groote, W. P., McEwan, J. R., Compston, D. A., Oorthuys, H., Davies, J., Dinwoodie, D. L.
|
|
<strong>Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders.</strong>
|
|
Clin. Exp. Derm. 13: 285-302, 1988.
|
|
|
|
|
|
[PubMed: 3076851]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2230.1988.tb00709.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pyeritz, R. E., Stolle, C. A., Parfrey, N. A., Myers, J. C.
|
|
<strong>Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen.</strong>
|
|
Am. J. Med. Genet. 19: 607-622, 1984.
|
|
|
|
|
|
[PubMed: 6507506]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320190328]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Richards, A. J., Lloyd, J. C., Narcisi, P., Ward, P. N., Nicholls, A. C., De Paepe, A., Pope, F. M.
|
|
<strong>A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Genet. 88: 325-330, 1992.
|
|
|
|
|
|
[PubMed: 1370809]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00197268]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Richards, A. J., Lloyd, J. C., Ward, P. N., De Paepe, A., Narcisi, P., Pope, F. M.
|
|
<strong>Characterization of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
J. Med. Genet. 28: 458-463, 1991.
|
|
|
|
|
|
[PubMed: 1895316]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.28.7.458]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Richards, A. J., Ward, P. N., Narcisi, P., Nicholls, A. C., Lloyd, J. C., Pope, F. M.
|
|
<strong>A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV: an unaffected family member is mosaic for the mutation.</strong>
|
|
Hum. Genet. 89: 414-418, 1992.
|
|
|
|
|
|
[PubMed: 1352273]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00194313]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roberts, D. L. L., Pope, F. M., Nicholls, A. C., Narcisi, P.
|
|
<strong>Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.</strong>
|
|
Brit. J. Derm. 111: 341-345, 1984.
|
|
|
|
|
|
[PubMed: 6477831]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2133.1984.tb04733.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schievink, W. I., Limburg, M.
|
|
<strong>Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. (Letter)</strong>
|
|
Neurosurgery 25: 482-483, 1989.
|
|
|
|
|
|
[PubMed: 2771024]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00006123-198909000-00033]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schurr, E., Skamene, E., Morgan, K., Chu, M.-L., Gros, P.
|
|
<strong>Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q.</strong>
|
|
Genomics 8: 477-486, 1990.
|
|
|
|
|
|
[PubMed: 1981051]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90034-r]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwarze, U., Goldstein, J. A., Byers, P. H.
|
|
<strong>Splicing defects in the COL3A1 gene: marked preference for 5-prime (donor) splice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Hum. Genet. 61: 1276-1286, 1997.
|
|
|
|
|
|
[PubMed: 9399899]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301641]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwarze, U., Schievink, W. I., Petty, E., Jaff, M. R., Babovic-Vuksanovic, D., Cherry, K. J., Pepin, M., Byers, P. H.
|
|
<strong>Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.</strong>
|
|
Am. J. Hum. Genet. 69: 989-1001, 2001.
|
|
|
|
|
|
[PubMed: 11577371]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/324123]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sillence, D. O., Chiodo, A. A., Campbell, P. E., Cole, W. G.
|
|
<strong>Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.</strong>
|
|
J. Med. Genet. 28: 840-845, 1991.
|
|
|
|
|
|
[PubMed: 1757960]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.28.12.840]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Solomon, E., Hiorns, L. R., Spurr, N., Kurkinen, M., Barlow, D., Hogan, B. L. M., Dalgleish, R.
|
|
<strong>Chromosomal assignments of the genes coding for human types II, III and IV collagen: a dispersed gene family.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 3330-3334, 1985.
|
|
|
|
|
|
[PubMed: 2987919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.82.10.3330]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stolle, C. A., Pyeritz, R. E., Myers, J. C., Prockop, D. J.
|
|
<strong>Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome: a structural change in the alpha-1(III) chain which makes the protein more susceptible to proteinases.</strong>
|
|
J. Biol. Chem. 260: 1937-1944, 1985.
|
|
|
|
|
|
[PubMed: 2981879]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Superti-Furga, A., Gugler, E., Gitzelmann, R., Steinmann, B.
|
|
<strong>Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.</strong>
|
|
J. Biol. Chem. 263: 6226-6232, 1988.
|
|
|
|
|
|
[PubMed: 2834369]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thakker-Varia, S., Anderson, D. W., Kuivaniemi, H., Tromp, G., Shin, H.-G., van der Rest, M., Glorieux, F. H., Ala-Kokko, L., Stolle, C. A.
|
|
<strong>Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.</strong>
|
|
Hum. Mutat. 6: 116-125, 1995.
|
|
|
|
|
|
[PubMed: 7581395]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380060204]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tromp, G., De Paepe, A., Nuytinck, L., Madhatheri, S., Kuivaniemi, H.
|
|
<strong>Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Mutat. 5: 179-181, 1995.
|
|
|
|
|
|
[PubMed: 7749417]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380050213]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tromp, G., Kuivaniemi, H., Shikata, H., Prockop, D. J.
|
|
<strong>A single base mutation that substitutes serine for glycine 790 of the alpha-1(III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.</strong>
|
|
J. Biol. Chem. 264: 1349-1352, 1989.
|
|
|
|
|
|
[PubMed: 2492273]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F. M., Prockop, D. J.
|
|
<strong>Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.</strong>
|
|
J. Biol. Chem. 264: 19313-19317, 1989.
|
|
|
|
|
|
[PubMed: 2808425]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tromp, G., Wu, Y., Prockop, D. J., Madhatheri, S. L., Kleinert, C., Earley, J. J., Zhuang, J., Norrgard, O., Darling, R. C., Abbott, W. M., Cole, C. W., Jaakkola, P., Ryynanen, M., Pearce, W. H., Yao, J. S. T., Majamaa, K., Smullens, S. N., Gatalica, Z., Ferrell, R. E., Jimenez, S. A., Jackson, C. E., Michels, V. V., Kaye, M., Kuivaniemi, H.
|
|
<strong>Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.</strong>
|
|
J. Clin. Invest. 91: 2539-2545, 1993.
|
|
|
|
|
|
[PubMed: 8514866]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI116490]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tsipouras, P., Schwartz, R. C., Liddell, A. C., Salkeld, C. S., Weil, D., Ramirez, F.
|
|
<strong>Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.</strong>
|
|
Genomics 3: 275-277, 1988.
|
|
|
|
|
|
[PubMed: 3224983]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(88)90089-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van den Berg, J. S. P., Limburg, M., Kappelle, L. J., Pals, G., Arwert, F., Westerveld, A.
|
|
<strong>The role of type III collagen in spontaneous cervical arterial dissections.</strong>
|
|
Ann. Neurol. 43: 494-498, 1998.
|
|
|
|
|
|
[PubMed: 9546331]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410430413]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vandervore, L., Stouffs, K., Tanyalcin, I., Vanderhasselt, T., Roelens, F., Holder-Espinasse, M., Jorgensen, A., Pepin, M. G., Petit, F., Khau Van Kien, P., Bahi-Buisson, N., Lissens, W., Gheldof, A., Byers, P. H., Jansen, A. C.
|
|
<strong>Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.</strong>
|
|
J. Med. Genet. 54: 432-440, 2017.
|
|
|
|
|
|
[PubMed: 28258187]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2016-104421]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wu, Y., Kuivaniemi, H., Tromp, G., Strobel, D., Romanic, A. M., Prockop, D. J.
|
|
<strong>Temperature sensitivity of aberrant RNA splicing with a mutation in the G(+5) position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.</strong>
|
|
Hum. Mutat. 2: 28-36, 1993.
|
|
|
|
|
|
[PubMed: 8477261]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380020106]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zafarullah, K., Kleinert, C., Tromp, G., Kuivaniemi, H., Kontusaari, S., Wu, Y., Ganguly, A., Prockop, D. J.
|
|
<strong>G to A polymorphism in exon 31 of the COL3A1 gene.</strong>
|
|
Nucleic Acids Res. 18: 6180, 1990.
|
|
|
|
|
|
[PubMed: 2235526]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/18.20.6180]
|
|
|
|
|
|
</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">
|
|
Cassandra L. Kniffin - updated : 03/04/2019<br>Patricia A. Hartz - updated : 10/15/2013<br>Cassandra L. Kniffin - updated : 4/22/2011<br>Marla J. F. O'Neill - updated : 9/25/2009<br>Patricia A. Hartz - updated : 6/4/2009<br>Victor A. McKusick - updated : 8/29/2003<br>Victor A. McKusick - updated : 7/10/2003<br>Victor A. McKusick - updated : 4/22/2003<br>Deborah L. Stone - updated : 2/28/2002<br>Victor A. McKusick - updated : 3/23/2000<br>Sonja A. Rasmussen - updated : 5/12/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Orest Hurko - updated : 11/9/1998<br>Victor A. McKusick - updated : 2/16/1998<br>Victor A. McKusick - updated : 10/20/1997<br>Victor A. McKusick - updated : 4/7/1997<br>Victor A. McKusick - updated : 3/12/1997<br>Victor A. McKusick - updated : 2/28/1997<br>Iosif W. Lurie - updated : 9/22/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</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 : 03/07/2019<br>carol : 03/05/2019<br>ckniffin : 03/04/2019<br>carol : 12/21/2017<br>carol : 04/26/2017<br>carol : 04/25/2017<br>alopez : 10/07/2016<br>carol : 03/25/2016<br>carol : 4/13/2015<br>mgross : 10/28/2013<br>tpirozzi : 10/15/2013<br>carol : 9/18/2013<br>terry : 6/20/2012<br>carol : 5/30/2012<br>wwang : 5/12/2011<br>ckniffin : 4/22/2011<br>carol : 9/16/2010<br>terry : 9/16/2010<br>carol : 9/28/2009<br>carol : 9/25/2009<br>wwang : 7/29/2009<br>mgross : 6/4/2009<br>mgross : 6/4/2009<br>terry : 6/4/2009<br>alopez : 12/19/2005<br>terry : 6/25/2004<br>tkritzer : 9/17/2003<br>tkritzer : 9/5/2003<br>terry : 8/29/2003<br>carol : 8/18/2003<br>tkritzer : 8/4/2003<br>tkritzer : 7/31/2003<br>terry : 7/30/2003<br>terry : 7/28/2003<br>terry : 7/10/2003<br>cwells : 4/28/2003<br>terry : 4/22/2003<br>carol : 2/27/2003<br>carol : 2/28/2002<br>alopez : 3/13/2001<br>mcapotos : 4/14/2000<br>mcapotos : 4/14/2000<br>mcapotos : 4/13/2000<br>carol : 3/28/2000<br>carol : 3/28/2000<br>terry : 3/23/2000<br>carol : 2/17/2000<br>carol : 5/13/1999<br>carol : 5/12/1999<br>carol : 2/5/1999<br>terry : 1/25/1999<br>dkim : 12/10/1998<br>carol : 11/25/1998<br>terry : 11/9/1998<br>alopez : 9/10/1998<br>terry : 6/3/1998<br>mark : 2/25/1998<br>terry : 2/16/1998<br>mark : 10/22/1997<br>terry : 10/20/1997<br>terry : 6/23/1997<br>terry : 6/20/1997<br>mark : 4/7/1997<br>terry : 4/1/1997<br>terry : 3/12/1997<br>terry : 3/6/1997<br>mark : 2/28/1997<br>terry : 2/26/1997<br>mark : 12/9/1996<br>carol : 9/22/1996<br>mark : 1/31/1996<br>terry : 1/25/1996<br>mark : 10/2/1995<br>terry : 11/16/1994<br>davew : 8/17/1994<br>carol : 4/12/1994<br>warfield : 4/8/1994<br>pfoster : 3/25/1994
|
|
</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>
|
|
|
|
|