5764 lines
488 KiB
Text
5764 lines
488 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
|
|
|
|
- *120110 - COLLAGEN, TYPE X, ALPHA-1; COL10A1
|
|
|
|
|
|
- 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=120110"><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">*120110</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="#geneFunction">Gene Function</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneStructure">Gene Structure</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#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/120110">Table View</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000123500;t=ENST00000651968" 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=1300" 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=120110" 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=ENSG00000123500;t=ENST00000651968" 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_000493,NM_001424106,NM_001424107,XM_011535433" 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_000493" 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=120110" 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=00357&isoform_id=00357_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/COL10A1" 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/30014,30095,545181,553796,560151,688347,1405723,2506306,4225951,18105032,119568625,120659966,120660294,767941882,1779411791,2462605961,2572895186,2572895198" 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/Q03692" 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=1300" 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=ENSG00000123500;t=ENST00000651968" 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=COL10A1" 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=COL10A1" 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+1300" 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/COL10A1" 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:1300" 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/1300" 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=chr6&hgg_gene=ENST00000651968.1&hgg_start=116118909&hgg_end=116217144&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/genes/HGNC:2185" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=120110[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=120110[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/COL10A1/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/ENSG00000123500" 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=COL10A1" 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=COL10A1" 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=COL10A1" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=COL10A1&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/PA26701" 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:2185" 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:88445" 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/COL10A1#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:88445" 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/1300/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://omia.org/OMIA001718/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=1300" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-030131-7079" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1300" 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=COL10A1&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> 29248006<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>
|
|
120110
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
COLLAGEN, TYPE X, ALPHA-1; COL10A1
|
|
|
|
</span>
|
|
</h3>
|
|
</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=COL10A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">COL10A1</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/6/796?start=-3&limit=10&highlight=796">6q22.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:116118909-116217144&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'})">6:116,118,909-116,217,144</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
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/796?start=-3&limit=10&highlight=796">
|
|
6q22.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Metaphyseal chondrodysplasia, Schmid type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/156500"> 156500 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/120110" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/120110" 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 X is a short-chain minor collagen of cartilage (<a href="#28" class="mim-tip-reference" title="Schmid, T. M., Linsenmayer, T. F. <strong>Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues.</strong> J. Cell Biol. 100: 598-605, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2578471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2578471</a>] [<a href="https://doi.org/10.1083/jcb.100.2.598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2578471">Schmid and Linsenmayer, 1985</a>). During development and growth of long bones, chondrocytes pass sequentially through a proliferative, a hypertrophic and a degenerative stage, each characterized by a particular set of collagen types. Proliferative (stage I) chondrocytes synthesize type II collagen as the major collagen and types IX and XI as the minor collagens. Hypertrophic (stage II) chondrocytes localized in the columnar, calcifying cartilage are characterized by the synthesis of types X and II collagen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2578471" 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="Kirsch, T., von der Mark, K. <strong>Isolation of human type X collagen and immunolocalization in fetal human cartilage.</strong> Europ. J. Biochem. 196: 575-580, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2013280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2013280</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1991.tb15852.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2013280">Kirsch and von der Mark (1991)</a> isolated human type X collagen from fetal human growth plate cartilage and purified it to homogeneity. They raised an antiserum against the purified protein and used the antibody to show the distribution of type X collagen in fetal human growth plate cartilage and in the calcifying zone of fetal human sternum. Possible involvement of the COL10A1 gene in chondrodysplasias and other disorders of cartilage such as osteoarthrosis was suggested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2013280" 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="#33" class="mim-tip-reference" title="Thomas, J. T., Cresswell, C. J., Rash, B., Hoyland, J., Freemont, A. J., Grant, M. E., Boot-Handford, R. P. <strong>The human collagen X gene: complete primary sequence and reexpression in osteoarthritis.</strong> Biochem. Soc. Trans. 19: 804-808, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1794562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1794562</a>] [<a href="https://doi.org/10.1042/bst0190804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1794562">Thomas et al. (1991)</a> reported the complete primary sequence of type X collagen. Collagen X is a homotrimer containing 3 identical chains with a relative molecular mass of 59,000. The triple helical domain is approximately half the size of that in collagen of types I, II, and III. The localization of collagen X and its transient expression at sites of calcification suggests that it is associated with events in the later stages of endochondral bone formation. Collagen X possesses striking structural similarities to collagen VIII (<a href="/entry/120251">120251</a>), another short-chain collagen found predominantly in Descemet membrane, the specialized basement membrane synthesized by corneal endothelial cells. Two exons encode the complete primary translation product, which consists of a putative signal-peptide sequence (18 amino acids), an N-terminal noncollagenous domain (38 amino acids), a triple helix (463 amino acids), and a C-terminal noncollagenous domain (161 amino acids). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1794562" 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><a href="#40" class="mim-tip-reference" title="Zheng, Q., Zhou, G., Chen, Y., Garcia-Rojas, X., Lee, B. <strong>Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo.</strong> J. Cell Biol. 162: 833-842, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12952936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12952936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12952936[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/10.1083/jcb.200211089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12952936">Zheng et al. (2003)</a> identified multiple functional RUNX2 (<a href="/entry/600211">600211</a>)-binding sites within the promoter region of the human, mouse, and chicken COL10A1 genes. In transgenic mouse cells, Runx2 contributed to the transactivation of the Col10a1 promoter. Also, decreased Col10a1 expression and altered chondrocyte hypertrophy were observed in Runx2 heterozygous mice, whereas Col10a1 was barely detectable in Runx2 null mice. <a href="#40" class="mim-tip-reference" title="Zheng, Q., Zhou, G., Chen, Y., Garcia-Rojas, X., Lee, B. <strong>Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo.</strong> J. Cell Biol. 162: 833-842, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12952936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12952936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12952936[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/10.1083/jcb.200211089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12952936">Zheng et al. (2003)</a> concluded that COL10A1 is a direct transcriptional target of RUNX2 during chondrogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12952936" 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="#33" class="mim-tip-reference" title="Thomas, J. T., Cresswell, C. J., Rash, B., Hoyland, J., Freemont, A. J., Grant, M. E., Boot-Handford, R. P. <strong>The human collagen X gene: complete primary sequence and reexpression in osteoarthritis.</strong> Biochem. Soc. Trans. 19: 804-808, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1794562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1794562</a>] [<a href="https://doi.org/10.1042/bst0190804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1794562">Thomas et al. (1991)</a> determined that collagen X is encoded by 2 exons of 169 bp and 2,940 bp, which are separated by a 3,200-bp intron. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1794562" 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="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> noted that the COL10A1 gene contains 3 exons with a noncoding first exon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403716" 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>With consensus primers based on the nucleotide sequence of the chicken type X collagen gene, <a href="#1" class="mim-tip-reference" title="Apte, S., Mattei, M.-G., Olsen, B. R. <strong>Cloning of human alpha-1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6.</strong> FEBS Lett. 282: 393-396, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2037056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2037056</a>] [<a href="https://doi.org/10.1016/0014-5793(91)80521-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2037056">Apte et al. (1991)</a> used PCR with human genomic DNA as a template to isolate a 289-bp fragment for part of the carboxyl non-triple helical domain of the human gene. Using the PCR clone as a probe for in situ hybridization of human metaphase chromosome spreads and for Southern analysis of a panel of human-hamster somatic cell hybrid DNAs, they assigned the COL10A1 locus to 6q21-q22. <a href="#34" class="mim-tip-reference" title="Thomas, J. T., Cresswell, C. J., Rash, B., Nicolai, H., Jones, T., Solomon, E., Grant, M. E., Boot-Handford, R. P. <strong>The human collagen X gene: complete primary translated sequence and chromosomal localization.</strong> Biochem. J. 280: 617-623, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1764025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1764025</a>] [<a href="https://doi.org/10.1042/bj2800617" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1764025">Thomas et al. (1991)</a> likewise assigned COL10A1 to 6q21-q22.3 by a combination of somatic cell hybrid screening and in situ hybridization. <a href="#2" class="mim-tip-reference" title="Apte, S. S., Seldin, M. F., Hayashi, M., Olsen, B. R. <strong>Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10.</strong> Europ. J. Biochem. 206: 217-224, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1587271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1587271</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1992.tb16919.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1587271">Apte et al. (1992)</a> demonstrated that this gene is located on mouse chromosome 10. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1587271+2037056+1764025" 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>Using PCR and SSCP, <a href="#31" class="mim-tip-reference" title="Sweetman, W. A., Rash, B., Sykes, B., Beighton, P., Hecht, J. T., Zabel, B., Thomas, J. T., Boot-Handford, R., Grant, M. E., Wallis, G. A. <strong>SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.</strong> Am. J. Hum. Genet. 51: 841-849, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1329505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1329505</a>]" pmid="1329505">Sweetman et al. (1992)</a> identified 7 sequence changes in the coding region of the COL10A1 gene. Six of these were shown to be polymorphic in nature and were used to demonstrate discordant segregation between the COL10A1 locus and both achondroplasia (<a href="/entry/100800">100800</a>) and pseudoachondroplasia (<a href="/entry/177170">177170</a>). The seventh sequence change resulted in a val-to-met substitution in the C-terminal domain of the molecule and was identified only in 2 persons with hypochondroplasia (<a href="/entry/146000">146000</a>) from a single family. Segregation analysis in this family was inconclusive; thus the significance of the substitution remained uncertain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1329505" 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="#37" class="mim-tip-reference" title="Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A. <strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong> Nature Genet. 5: 79-82, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>] [<a href="https://doi.org/10.1038/ng0993-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220429">Warman et al. (1993)</a> proved that mutation in the COL10A1 gene is responsible for Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>). A number of COL10A1 mutations have been identified in patients with MCDS; each is within the C-terminal noncollagenous (NC1) domain and it has been suggested that the phenotype is the result of the inability of the mutant polypeptide to initiate trimer formation (<a href="#37" class="mim-tip-reference" title="Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A. <strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong> Nature Genet. 5: 79-82, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>] [<a href="https://doi.org/10.1038/ng0993-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220429">Warman et al., 1993</a>; McIntosh et al. (<a href="#23" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Warman, M. L., Olsen, B. R., Francomano, C. A. <strong>Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.</strong> Hum. Molec. Genet. 3: 303-307, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004099</a>] [<a href="https://doi.org/10.1093/hmg/3.2.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004099">1994</a>, <a href="#22" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Francomano, C. A. <strong>Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.</strong> Hum. Mutat. 5: 121-125, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7749409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7749409</a>] [<a href="https://doi.org/10.1002/humu.1380050204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7749409">1995</a>)). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7749409+8004099+8220429" 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="#36" class="mim-tip-reference" title="Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P. <strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong> J. Med. Genet. 33: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782043</a>] [<a href="https://doi.org/10.1136/jmg.33.6.450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8782043">Wallis et al. (1996)</a> reviewed the 21 known mutations in the COL10A1 gene that have been associated with the Schmid type of metaphyseal chondrodysplasia and noted that all occur in the region of COL10A1 encoding the C-terminal NC1 domain. They contended that the restricted distribution of COL10A1 mutations causing MCDS argues against haploinsufficiency being the mutation mechanism in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8782043" 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="#37" class="mim-tip-reference" title="Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A. <strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong> Nature Genet. 5: 79-82, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>] [<a href="https://doi.org/10.1038/ng0993-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220429">Warman et al. (1993)</a> and <a href="#36" class="mim-tip-reference" title="Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P. <strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong> J. Med. Genet. 33: 450-457, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782043</a>] [<a href="https://doi.org/10.1136/jmg.33.6.450" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8782043">Wallis et al. (1996)</a> found no mutations in the COL10A1 gene in patients with other types of metaphyseal chondrodysplasia. <a href="#15" class="mim-tip-reference" title="Ikegawa, S., Nakamura, K., Nagano, A., Haga, N., Nakamura, Y. <strong>Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.</strong> Hum. Mutat. 9: 131-135, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9067753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9067753</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9067753">Ikegawa et al. (1997)</a> found 2 de novo missense mutations in the N-terminal globular domain of the type X collagen gene. Previously reported mutations had all involved the C-terminal globular domain. The clinical phenotype for MCDS was typical in these Japanese patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9067753+8782043+8220429" 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="#19" 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 17 different mutations in the COL10A1 gene that had been identified in patients with MCDS. <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>Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. <a href="#16" class="mim-tip-reference" title="Ikegawa, S., Nishimura, G., Nagai, T., Hasegawa, T., Ohashi, H., Nakamura, Y. <strong>Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.</strong> Am. J. Hum. Genet. 63: 1659-1662, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837818</a>] [<a href="https://doi.org/10.1086/302158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837818">Ikegawa et al. (1998)</a> examined the entire coding region of COL10A1 in a search for mutations in 5 unrelated patients with SMD because Schmid metaphyseal chondrodysplasia shows significant phenotypic overlap with SMD, and because transgenic mice carrying deletions in type X collagen show SMD phenotypes (<a href="#17" class="mim-tip-reference" title="Jacenko, O., LuValle, P. A., Olsen, B. R. <strong>Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition.</strong> Nature 365: 56-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8361538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8361538</a>] [<a href="https://doi.org/10.1038/365056a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8361538">Jacenko et al., 1993</a>). They found a heterozygous missense mutation (<a href="#0016">120110.0016</a>) cosegregating with the disease phenotype in 1 SMD family. The 1 patient in whom the COL10A1 mutation was found had been described by <a href="#13" class="mim-tip-reference" title="Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y. <strong>Japanese type of spondylo-metaphyseal dysplasia.</strong> Pediat. Radiol. 24: 194-197, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936797</a>] [<a href="https://doi.org/10.1007/BF02012189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936797">Hasegawa et al. (1994)</a> as having a novel type of SMD called the Japanese type. Four other unrelated Japanese patients who were studied were sporadic instances of SMD. Two of them were thought to have the Kozlowski type (<a href="/entry/184252">184252</a>); one had the corner fracture type (<a href="/entry/184255">184255</a>), and one had an unspecified form of SMD. No mutation was found in these 4 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8361538+9837818+7936797" 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 molecular modeling of the C-terminal NC1 domain of mutated recombinant COL10A1, <a href="#21" class="mim-tip-reference" title="Marks, D. S., Gregory, C. A., Wallis, G. A., Brass, A., Kadler, K. E., Boot-Handford, R. P. <strong>Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.</strong> J. Biol. Chem. 274: 3632-3641, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9920912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9920912</a>] [<a href="https://doi.org/10.1074/jbc.274.6.3632" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9920912">Marks et al. (1999)</a> determined that many of the mutations that result in MCDS are localized to 2 specific regions of the folded monomeric NC1 domain. By mutation analysis, they showed that NC1 domains containing the tyr598-to-asp (Y598D; <a href="#0002">120110.0002</a>) and ser600-to-pro (S600P; <a href="#0018">120110.0018</a>) mutations retained the ability to form trimers, although these trimers showed less thermal stability than wildtype molecules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9920912" 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="Wilson, R., Freddi, S., Bateman, J. F. <strong>Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.</strong> J. Biol. Chem. 277: 12516-12524, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805116</a>] [<a href="https://doi.org/10.1074/jbc.M112044200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11805116">Wilson et al. (2002)</a> analyzed the expression and degradation of COL10A1 mutations in patient cartilage tissue and in transfected cells. They found that COL10A1 carrying the Y598D mutation or a frameshift mutation resulted in proteins that were fully degraded, resulting in 50% less functional collagen X within patient growth plates. <a href="#38" class="mim-tip-reference" title="Wilson, R., Freddi, S., Bateman, J. F. <strong>Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.</strong> J. Biol. Chem. 277: 12516-12524, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805116</a>] [<a href="https://doi.org/10.1074/jbc.M112044200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11805116">Wilson et al. (2002)</a> determined that the mutant chains were capable of triple helix formation. When transfected into osteosarcoma cells, however, the mutants were expressed at the mRNA level, but the protein was not secreted. Inhibitor studies indicated that the mutant collagens remained associated with the endoplasmic reticulum and were degraded by both the proteasome and lysosome degradation pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11805116" 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="#7" class="mim-tip-reference" title="Chan, D., Ho, M. S. P., Cheah, K. S. E. <strong>Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia: implications for the molecular basis of the disease.</strong> J. Biol. Chem. 276: 7992-7997, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115494</a>] [<a href="https://doi.org/10.1074/jbc.M003361200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11115494">Chan et al. (2001)</a> determined that COL10A1 harboring mutations in or near the N-terminal signal sequence, such as gly18 to arg (G18R; <a href="#0012">120110.0012</a>), result in chains that can associate into trimers, but the signal peptide is not removed and the trimers cannot form a triple helix. The mutant chains remain anchored to the membrane of microsomes and are not secreted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115494" 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 MCDS patients with COL10A1 nonsense mutations, trp611 to ter (<a href="#0019">120110.0019</a>) and tyr632 to ter (<a href="#0015">120110.0015</a>), <a href="#3" class="mim-tip-reference" title="Bateman, J. F., Freddi, S., Nattrass, G., Savarirayan, R. <strong>Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.</strong> Hum. Molec. Genet. 12: 217-225, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12554676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12554676</a>] [<a href="https://doi.org/10.1093/hmg/ddg054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12554676">Bateman et al. (2003)</a> showed that the mutated alleles underwent complete nonsense-mediated mRNA decay (NMD) in cartilage, but not in lymphoblasts or bone cells. The authors suggested that novel RNA surveillance mechanisms may exist in cartilage, and that tissue specificity of NMD could be of importance in understanding the molecular pathology of nonsense mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12554676" 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="Makitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F. H., Cole, W. G. <strong>Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.</strong> Am. J. Med. Genet. 137A: 241-248, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088909</a>] [<a href="https://doi.org/10.1002/ajmg.a.30855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16088909">Makitie et al. (2005)</a> reported 10 patients with MCDS and COL10A1 mutations in whom the most characteristic radiographic findings were found in the proximal femoral metaphysis, which showed metaphyseal irregularity, coxa vara, and a vertical growth plate in all the patients. <a href="#20" class="mim-tip-reference" title="Makitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F. H., Cole, W. G. <strong>Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.</strong> Am. J. Med. Genet. 137A: 241-248, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088909</a>] [<a href="https://doi.org/10.1002/ajmg.a.30855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16088909">Makitie et al. (2005)</a> concluded that type X collagen plays a key role in femoral neck development and may be an important determinant of its length, width, and neck-shaft angle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Chan, D., Weng, Y. M., Graham, H. K., Sillence, D. O., Bateman, J. F. <strong>A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in Schmid metaphyseal chondrodysplasia.</strong> J. Clin. Invest. 101: 1490-1499, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525992</a>] [<a href="https://doi.org/10.1172/JCI1976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9525992">Chan et al. (1998)</a> demonstrated lack of mutant RNA in the growth plate cartilage of a patient with MCDS and suggested that haploinsufficiency was the molecular basis of MCDS. <a href="#11" class="mim-tip-reference" title="Gregory, C. A., Zabel, B., Grant, M. E., Boot-Handford, R. P., Wallis, G. A. <strong>Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid. (Letter)</strong> J. Med. Genet. 37: 627-629, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10991694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10991694</a>] [<a href="https://doi.org/10.1136/jmg.37.8.627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10991694">Gregory et al. (2000)</a>, however, demonstrated the presence of both mutant and normal mRNA in the growth plate of a patient with MCDS and suggested that a dominant-negative effect was more likely to be the molecular basis of MCDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9525992+10991694" 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="Bateman, J. F., Wilson, R., Freddi, S., Lamande, S. R., Savarirayan, R. <strong>Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.</strong> Hum. Mutat. 25: 525-534, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15880705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15880705</a>] [<a href="https://doi.org/10.1002/humu.20183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15880705">Bateman et al. (2005)</a> stated that 33 unique heterozygous mutations in the COL10A1 gene had been described in 36 cases of Schmid metaphyseal chondrodysplasia and that these were about equally divided between missense mutations and mutations that introduced premature termination signals. These mutations were clustered (33 of 36 patients) in the 3-prime region of exon 3, which codes for the C-terminal NC1 trimerization domain. In the case of COL10A1 missense mutations, a common consequence appeared to be a disruption of collagen X trimerization and secretion, with consequent intracellular degradation. COL10A1 nonsense mutations in cartilage tissue lead to removal of the mutant RNA by nonsense-mediated mRNA decay (NMD). Thus, for both classes of mutations, functional haploinsufficiency is the most probable cause of the clinical phenotype in MCDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15880705" 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 13-year-old boy with MCDS, <a href="#14" class="mim-tip-reference" title="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> identified heterozygosity for a nonsense mutation in COL10A1 (Y663X; <a href="#0020">120110.0020</a>). Approximately 50% of mutant Y663X mRNA was translated into truncated alpha-1(X) chains that were misfolded, unable to assemble into trimers, and interfered with the assembly of normal alpha-1(X) chains into trimers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403716" 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><a href="#17" class="mim-tip-reference" title="Jacenko, O., LuValle, P. A., Olsen, B. R. <strong>Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition.</strong> Nature 365: 56-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8361538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8361538</a>] [<a href="https://doi.org/10.1038/365056a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8361538">Jacenko et al. (1993)</a> produced a spondylometaphyseal dysplasia in mice by a transgenic dominant-negative mutation in type X collagen. Of interest, <a href="#26" class="mim-tip-reference" title="Rosati, R., Horan, G. S. B., Pinero, G. J., Garofalo, S., Keene, D. R., Horton, W. A., Vuorio, E., de Crombrugghe, B., Behringer, R. R. <strong>Normal long bone growth and development in type X collagen-null mice.</strong> Nature Genet. 8: 129-135, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7842010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7842010</a>] [<a href="https://doi.org/10.1038/ng1094-129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7842010">Rosati et al. (1994)</a> observed normal long bone growth and development in mice expressing no type X collagen. This finding supports the contention that Schmid metaphyseal chondrodysplasia is the result of a dominant-negative effect of mutant collagen polypeptide and not the deficiency of normal type X collagen as suggested previously (<a href="#37" class="mim-tip-reference" title="Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A. <strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong> Nature Genet. 5: 79-82, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>] [<a href="https://doi.org/10.1038/ng0993-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220429">Warman et al., 1993</a>; McIntosh et al. (<a href="#23" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Warman, M. L., Olsen, B. R., Francomano, C. A. <strong>Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.</strong> Hum. Molec. Genet. 3: 303-307, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004099</a>] [<a href="https://doi.org/10.1093/hmg/3.2.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004099">1994</a>, <a href="#22" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Francomano, C. A. <strong>Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.</strong> Hum. Mutat. 5: 121-125, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7749409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7749409</a>] [<a href="https://doi.org/10.1002/humu.1380050204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7749409">1995</a>)) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7842010+8220429+7749409+8004099+8361538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Gress, C. J., Jacenko, O. <strong>Growth plate compressions and altered hematopoiesis in collagen X null mice.</strong> J. Cell Biol. 149: 983-993, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10811836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10811836</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10811836[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/10.1083/jcb.149.4.983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10811836">Gress and Jacenko (2000)</a> showed that transgenic and knockout mice with inactivated Col10a1 manifest variable phenotypes reflecting certain skeletohematopoietic defects. A subset of the knockout mice (approximately 11%) died 3 weeks after birth, and others continued to exhibit defects with age. Defects included erythrocyte predominance in marrow, reduced spleen and thymus size, altered B and T lymphocyte development, aberrant endochondral ossification, and dwarfism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10811836" 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="#24" class="mim-tip-reference" title="Nielsen, V. H., Bendixen, C., Arnbjerg, J., Sorensen, C. M., Jensen, H. E., Shukri, N. M., Thomsen, B. <strong>Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen.</strong> Mammalian Genome 11: 1087-1092, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11130976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11130976</a>] [<a href="https://doi.org/10.1007/s003350010212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11130976">Nielsen et al. (2000)</a> showed that a dominant form of skeletal dysplasia in domestic pigs is due to a gly590-to-arg missense mutation in the COL10A1 gene, and thus is a valid animal model of Schmid metaphyseal chondrodysplasia, which it resembles on radiologic and histologic grounds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11130976" 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>Similarities between Schmid metaphyseal chondrodysplasia and short stature in various dog breeds suggested COL10A1 as a candidate for canine skeletal dysplasia. <a href="#39" class="mim-tip-reference" title="Young, A. E., Ryun, J. R., Bannasch, D. L. <strong>Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.</strong> Mammalian Genome 17: 761-768, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16845471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16845471</a>] [<a href="https://doi.org/10.1007/s00335-005-0163-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16845471">Young et al. (2006)</a> reported the sequencing of the exons and promoter region of the COL10A1 gene in dog breeds fixed for a specific type of skeletal dysplasia known as chondrodysplasia, breeds that segregate the skeletal dysplasia phenotype, and control dogs of normal stature. They could find no evidence that the skeletal dysplasia phenotype in these dog breeds is related to COL10A1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16845471" 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="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> studied transgenic mice bearing the equivalent of a human 1859delC frameshift mutation (<a href="#0005">120110.0005</a>), which displayed typical characteristics of MCDS including disproportionate shortening of limbs and early onset coxa vara. The degree of expansion of the hypertrophic zones was noted to be transgene dosage-dependent, being most severe in mice homozygous for the transgene, and chondrocytes in the lower region of the expanded hypertrophic zone expressed markers uncharacteristic of hypertrophic chondrocytes, indicating that differentiation was disrupted. Misfolded mutant alpha-1(X) chains were retained within the endoplasmic reticulum (ER) of hypertrophic chondrocytes, activating the unfolded protein response. <a href="#14" class="mim-tip-reference" title="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> suggested that a gain-of-function effect, linked to the activation of the ER-stress response and altered chondrocyte differentiation, was a possible molecular pathogenetic mechanism for MCDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403716" 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>Nonsense-mediated decay (NMD) is a eukaryotic cellular RNA surveillance and quality control mechanism that degrades mRNA containing premature stop codons (nonsense mutations) that otherwise might exert a deleterious effect by the production of dysfunctional truncated proteins. Nonsense mutations in type X collagen causing Schmid metaphyseal chondrodysplasia are localized in a region toward the 3-prime end of the last exon (exon 3) and result in mRNA decay, in contrast to most other genes in which terminal-exon nonsense mutations are resistant to NMD. To explore the mechanism of last-exon mRNA decay of COL10A1, <a href="#32" class="mim-tip-reference" title="Tan, J. T., Kremer, F., Freddi, S., Bell, K. M., Baker, N. L., Lamande, S. R., Bateman, J. F. <strong>Competency of nonsense-mediated reduction in collagen X mRNA is specified by the 3-prime UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.</strong> Am. J. Hum. Genet. 82: 786-793, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18304492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18304492</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18304492[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/10.1016/j.ajhg.2008.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18304492">Tan et al. (2008)</a> introduced nonsense mutations into the mouse Col10a1 gene and expressed these in a hypertrophic-chondrocyte cell line. They demonstrated that mRNA decay is spatially restricted to mutations occurring in a 3-prime region of the exon 3 coding sequence, and this region corresponds to that in which human mutations have been described. This localization of mRNA decay competency suggested that a downstream region, such as the 3-prime untranslated region (UTR), may play a role in specifying decay of mutant Col10a1 mRNA containing nonsense mutations. <a href="#32" class="mim-tip-reference" title="Tan, J. T., Kremer, F., Freddi, S., Bell, K. M., Baker, N. L., Lamande, S. R., Bateman, J. F. <strong>Competency of nonsense-mediated reduction in collagen X mRNA is specified by the 3-prime UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.</strong> Am. J. Hum. Genet. 82: 786-793, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18304492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18304492</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18304492[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/10.1016/j.ajhg.2008.01.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18304492">Tan et al. (2008)</a> found that deleting any of the 3 conserved sequence regions within the 3-prime UTR prevented mutant mRNA decay. These data suggested that the 3-prime UTR participates in collagen X last-exon mRNA decay and that overall 3-prime UTR configuration, rather than specific linear sequence motifs, may be important in specifying decay of COL10A1 mRNA containing nonsense mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18304492" 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="#10" class="mim-tip-reference" title="Forouhan, M., Sonntag, S., Boot-Handford, R. P. <strong>Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.</strong> Hum. Molec. Genet. 27: 3840-3853, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30010889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30010889</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30010889[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddy253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30010889">Forouhan et al. (2018)</a> generated mice homozygous or heterozygous for the Col10a1 mutation Y632X (<a href="#0015">120110.0015</a>), which causes MCDS in humans. In contrast with the human MCDS patient heterozygous for Y632X, who expressed only the normal allele, Y632X mRNA in mice had the same stability as wildtype mRNA and did not undergo NMD. Regardless, both heterozygous and homozygous mutant mice grew slower than wildtype and had a robust MCDS phenotype. Mutant mice of either genotype had increased ER stress, and the Y632X protein induced a significant unfolded protein response. Histologic characterization revealed disrupted hypertrophic differentiation in growth plates of mice expressing the truncated mutant protein. Treatment of mutant mice with carbamazepine significantly reduced disease severity and ER stress and improved hypertrophic differentiation in growth plates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30010889" 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>20 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/120110" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=120110[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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, 13-BP DEL, NT1856
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019016" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019016" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019016</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Mormon kindred with autosomal dominant Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>) reported by <a href="#29" class="mim-tip-reference" title="Stephens, F. E. <strong>An achondroplastic mutation and the nature of its inheritance.</strong> J. Hered. 34: 229-235, 1943."None>Stephens (1943)</a> as an example of achondroplasia and studied by <a href="#6" class="mim-tip-reference" title="Caffey, J. P., Christensen, W. R. <strong>Personal Communication.</strong> Pittsburgh, Pa. and Salt Lake City, Utah 1963."None>Caffey and Christensen (1963)</a>, <a href="#37" class="mim-tip-reference" title="Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A. <strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong> Nature Genet. 5: 79-82, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>] [<a href="https://doi.org/10.1038/ng0993-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220429">Warman et al. (1993)</a> identified a 13-bp deletion starting with basepair 1856 in heterozygous state in the COL10A1 gene. The mutation produced a frameshift that altered the highly conserved C-terminal domain of the alpha-1(X) chain and reduced the length of the polypeptide by 9 residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8220429" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, TYR598ASP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033544 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033544;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=rs111033544" 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=rs111033544" 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=RCV000019017 OR RCV001851928" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019017, RCV001851928" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019017...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using PCR and SSCP techniques to analyze the coding and upstream promoter regions of the COL10A1 gene, <a href="#35" class="mim-tip-reference" title="Wallis, G. A., Rash, B., Sweetman, W. A., Thomas, J. T., Super, M., Evans, G., Grant, M. E., Boot-Handford, R. P. <strong>Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha-I(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.</strong> Am. J. Hum. Genet. 54: 169-178, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304336</a>]" pmid="8304336">Wallis et al. (1994)</a> identified heterozygosity for a single basepair transition that led to substitution of the highly conserved amino acid residue tyrosine at position 598 by aspartic acid (Y598D) in 5 affected members of a family with Schmid type metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>). The mutation was located within the carboxyl-terminal domain of the type X collagen chains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8304336" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, LEU614PRO
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033545 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033545;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=rs111033545" 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=rs111033545" 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=RCV000019018" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019018" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019018</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of Schmid type metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#35" class="mim-tip-reference" title="Wallis, G. A., Rash, B., Sweetman, W. A., Thomas, J. T., Super, M., Evans, G., Grant, M. E., Boot-Handford, R. P. <strong>Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha-I(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.</strong> Am. J. Hum. Genet. 54: 169-178, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304336</a>]" pmid="8304336">Wallis et al. (1994)</a> identified a 1-bp transition in the COL10A1 gene, resulting in a substitution of leucine-614 by proline (L614P). The mutation was located within the carboxyl-terminal domain of the type X collagen chains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8304336" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, CYS591ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033546 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033546;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=rs111033546" 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=rs111033546" 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=RCV000019019 OR RCV001851929" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019019, RCV001851929" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019019...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using PCR and SSCP analyses to examine the coding region of the COL10A1 gene, <a href="#23" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Warman, M. L., Olsen, B. R., Francomano, C. A. <strong>Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.</strong> Hum. Molec. Genet. 3: 303-307, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004099</a>] [<a href="https://doi.org/10.1093/hmg/3.2.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004099">McIntosh et al. (1994)</a> identified a single bp T-to-C transition that led to the substitution of the cysteine residue at position 591 by arginine (C591R) in a single, sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>). This residue is conserved across species and may be essential for intermolecular disulfide bridge formation prior to triple helix formation. The proband's unaffected mother proved to be somatic mosaic for the C591R mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004099" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, 1-BP DEL, 1856C
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1562122372 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562122372;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=rs1562122372" 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=rs1562122372" 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=RCV000019020" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019020" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019020</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#23" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Warman, M. L., Olsen, B. R., Francomano, C. A. <strong>Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.</strong> Hum. Molec. Genet. 3: 303-307, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004099</a>] [<a href="https://doi.org/10.1093/hmg/3.2.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004099">McIntosh et al. (1994)</a> identified a single base deletion of a cytosine residue (1856delC) in a span of 4 cytosines in exon 3 of the COL10A1 gene by PCR and SSCP analysis, which was predicted to result in frameshift and a premature termination codon after amino acid 620. <a href="#14" class="mim-tip-reference" title="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> referred to this mutation as 1859delC. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17403716+8004099" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, 2-BP DEL, FS665TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1779064401 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1779064401;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=rs1779064401" 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=rs1779064401" 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=RCV001352554 OR RCV002259553" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001352554, RCV002259553" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001352554...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#23" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Warman, M. L., Olsen, B. R., Francomano, C. A. <strong>Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.</strong> Hum. Molec. Genet. 3: 303-307, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004099</a>] [<a href="https://doi.org/10.1093/hmg/3.2.303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004099">McIntosh et al. (1994)</a> identified a 2-bp deletion in a sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>) which would be predicted to introduce a premature stop codon after amino acid 664 in COL10A1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004099" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, 10-BP DEL, NT1867
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2114277685 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2114277685;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=rs2114277685" 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=rs2114277685" 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=RCV001933655 OR RCV002259555" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001933655, RCV002259555" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001933655...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Heteroduplex analysis of PCR-amplified genomic DNA identified a 10-bp deletion in COL10A1 starting from nucleotide 1867 that segregated with Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>) in a 5-generation pedigree (<a href="#9" class="mim-tip-reference" title="Dharmavaram, R. M., Elberson, M. A., Peng, M., Kirson, L. A., Kelley, T. E., Jimenez, S. A. <strong>Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.</strong> Hum. Molec. Genet. 3: 507-509, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012364</a>] [<a href="https://doi.org/10.1093/hmg/3.3.507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012364">Dharmavaram et al., 1994</a>). The deletion overlaps that identified by <a href="#37" class="mim-tip-reference" title="Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A. <strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong> Nature Genet. 5: 79-82, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>] [<a href="https://doi.org/10.1038/ng0993-79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220429">Warman et al. (1993)</a> (<a href="#0001">120110.0001</a>) and gives rise to the same downstream protein sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8012364+8220429" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, 2-BP DEL, NT1856
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1562122372 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1562122372;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=rs1562122372" 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=rs1562122372" 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=RCV000019023" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019023" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019023</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Another 2-bp deletion was identified in a sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>) by <a href="#22" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Francomano, C. A. <strong>Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.</strong> Hum. Mutat. 5: 121-125, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7749409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7749409</a>] [<a href="https://doi.org/10.1002/humu.1380050204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7749409">McIntosh et al. (1995)</a>, coincidentally at the same position in COL10A1 as the deletion of the single base at 1856 in <a href="#0005">120110.0005</a> and the start of the 13-bp deletion described previously (<a href="#0001">120110.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7749409" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, TYR628TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033543 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033543;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=rs111033543" 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=rs111033543" 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=RCV000019024" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019024" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019024</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>A tyr628-to-ter (Y628X) mutation of COL10A1 was identified in a sporadic case of Schmid metaphyseal chondrodysplasia (MCDAS; <a href="/entry/156500">156500</a>) by <a href="#22" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Francomano, C. A. <strong>Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.</strong> Hum. Mutat. 5: 121-125, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7749409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7749409</a>] [<a href="https://doi.org/10.1002/humu.1380050204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7749409">McIntosh et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7749409" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, TRP651TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033547 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033547;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=rs111033547" 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=rs111033547" 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=RCV000019025" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019025" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019025</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using PCR and SSCP, <a href="#22" class="mim-tip-reference" title="McIntosh, I., Abbott, M. H., Francomano, C. A. <strong>Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.</strong> Hum. Mutat. 5: 121-125, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7749409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7749409</a>] [<a href="https://doi.org/10.1002/humu.1380050204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7749409">McIntosh et al. (1995)</a> identified a trp651-to-ter mutation (W651X) of the COL10A1 gene in a sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7749409" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, TRP651ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033549 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033549;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=rs111033549" 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=rs111033549" 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=RCV000019026 OR RCV002513115" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019026, RCV002513115" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019026...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese family with Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#25" class="mim-tip-reference" title="Pokharel, R. K., Alimsardjono, H., Uno, K., Fujii, S., Shiba, R., Matsuo, M. <strong>A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, noncollagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.</strong> Biochem. Biophys. Res. Commun. 217: 1157-1162, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8554571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8554571</a>] [<a href="https://doi.org/10.1006/bbrc.1995.2890" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8554571">Pokharel et al. (1995)</a> found that affected members had a T-to-C transition at nucleotide 1951 of COL10A1 that resulted in replacement of tryptophan by arginine at residue 651 (W651R). This novel mutation seemed to have the same impact on bone development as the W651X mutation (<a href="#0010">120110.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8554571" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, GLY18ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033550 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033550;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=rs111033550" 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=rs111033550" 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=RCV000019027" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019027" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019027</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with typical Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#15" class="mim-tip-reference" title="Ikegawa, S., Nakamura, K., Nagano, A., Haga, N., Nakamura, Y. <strong>Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.</strong> Hum. Mutat. 9: 131-135, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9067753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9067753</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9067753">Ikegawa et al. (1997)</a> found a heterozygous 52G-A transition of COL10A1 that caused replacement of a glycine residue by arginine at codon 18 (G18R). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9067753" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, GLY18GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033551 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033551;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=rs111033551" 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=rs111033551" 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=RCV000019028 OR RCV001378530" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019028, RCV001378530" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019028...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with typical Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#15" class="mim-tip-reference" title="Ikegawa, S., Nakamura, K., Nagano, A., Haga, N., Nakamura, Y. <strong>Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.</strong> Hum. Mutat. 9: 131-135, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9067753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9067753</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9067753">Ikegawa et al. (1997)</a> found a heterozygous 53G-A transition of COL10A1 that caused replacement of a glycine residue by glutamic acid at codon 18 (G18E). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9067753" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, SER671PRO
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033552 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033552;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=rs111033552" 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=rs111033552" 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=RCV000019029 OR RCV001385329" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019029, RCV001385329" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019029...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 members of a family affected by Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#30" class="mim-tip-reference" title="Stratakis, C. A., Orban, Z., Burns, A. L., Vottero, A., Mitsiades, C. S., Marx, S. J., Abbassi, V., Chrousos, G. P. <strong>Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.</strong> Biochem. Molec. Med. 59: 112-117, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8986632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8986632</a>] [<a href="https://doi.org/10.1006/bmme.1996.0075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8986632">Stratakis et al. (1996)</a> identified a T-to-C transition at nucleotide 2011 of the COL10A1 gene, resulting in a ser671-to-pro (S671P) substitution. The mother in this family, a 36-year-old woman with a height of 140 cm, had mild bilateral coxa vara. Her 2 sons, who had been delivered vaginally, had normal birth length and weight. Both had normal early development but developed leg bowing when they started walking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8986632" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, TYR632TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033548 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033548;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=rs111033548" 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=rs111033548" 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=RCV000019030 OR RCV001851930" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019030, RCV001851930" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019030...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#8" class="mim-tip-reference" title="Chan, D., Weng, Y. M., Graham, H. K., Sillence, D. O., Bateman, J. F. <strong>A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in Schmid metaphyseal chondrodysplasia.</strong> J. Clin. Invest. 101: 1490-1499, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525992</a>] [<a href="https://doi.org/10.1172/JCI1976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9525992">Chan et al. (1998)</a> obtained growth plate cartilage from a patient with Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), determined the type of collagen X mutation, and analyzed the expression of mutant and normal type X collagen mRNA and protein. The mutation was found to be a single nucleotide substitution that changed the tyr632 codon (TAC) to a stop codon (TAA). However, analysis of the expression of the normal and mutant allele transcripts in growth plate cartilage by reverse transcription PCR, restriction enzyme mapping, and a single nucleotide primer extension assay demonstrated that only normal mRNA was present. The lack of mutant mRNA is most likely the result of nonsense-mediated mRNA decay, a common fate of transcripts carrying premature termination mutations. Furthermore, no mutant protein was detected by immunoblotting cartilage extracts. The data indicated that a functionally null allele leading to type X collagen haploinsufficiency is the molecular basis of MCDS in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9525992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bateman, J. F., Freddi, S., Nattrass, G., Savarirayan, R. <strong>Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.</strong> Hum. Molec. Genet. 12: 217-225, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12554676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12554676</a>] [<a href="https://doi.org/10.1093/hmg/ddg054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12554676">Bateman et al. (2003)</a> demonstrated that Y632X mutant mRNA underwent nonsense-mediated decay in cartilage tissue but not in noncartilage cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12554676" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, GLY595GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033553 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033553;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=rs111033553" 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=rs111033553" 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=RCV000019031 OR RCV001851931" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019031, RCV001851931" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019031...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with the Schmid type of metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#5" class="mim-tip-reference" title="Bonaventure, J., Chaminade, F., Maroteaux, P. <strong>Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.</strong> Hum. Genet. 96: 58-64, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7607655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7607655</a>] [<a href="https://doi.org/10.1007/BF00214187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7607655">Bonaventure et al. (1995)</a> identified heterozygosity for a 1784G-A transition in the COL10A1 gene, resulting in a gly595-to-glu (G595E) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7607655" 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="Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y. <strong>Japanese type of spondylo-metaphyseal dysplasia.</strong> Pediat. Radiol. 24: 194-197, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936797</a>] [<a href="https://doi.org/10.1007/BF02012189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936797">Hasegawa et al. (1994)</a> described a Japanese family with a form of autosomal dominant spondylometaphyseal dysplasia that they termed the Japanese type (see <a href="/entry/156500">156500</a>). In affected members of this family, <a href="#16" class="mim-tip-reference" title="Ikegawa, S., Nishimura, G., Nagai, T., Hasegawa, T., Ohashi, H., Nakamura, Y. <strong>Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.</strong> Am. J. Hum. Genet. 63: 1659-1662, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837818</a>] [<a href="https://doi.org/10.1086/302158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9837818">Ikegawa et al. (1998)</a> identified the G595E mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9837818+7936797" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, TYR597CYS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033554 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033554;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=rs111033554" 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=rs111033554" 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=RCV000019032" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019032" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019032</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese girl with the clinical diagnosis of sporadic Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#27" class="mim-tip-reference" title="Sawai, H., Ida, A., Nakata, Y., Koyama, K. <strong>Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.</strong> J. Hum. Genet. 43: 259-261, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9852679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9852679</a>] [<a href="https://doi.org/10.1007/s100380050085" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9852679">Sawai et al. (1998)</a> demonstrated a tyr597-to-cys (Y597C) mutation in the COL10A1 gene. Both parents lacked the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9852679" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, SER600PRO
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033555 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033555;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=rs111033555" 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=rs111033555" 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=RCV000019033 OR RCV001851932" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019033, RCV001851932" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019033...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#11" class="mim-tip-reference" title="Gregory, C. A., Zabel, B., Grant, M. E., Boot-Handford, R. P., Wallis, G. A. <strong>Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid. (Letter)</strong> J. Med. Genet. 37: 627-629, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10991694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10991694</a>] [<a href="https://doi.org/10.1136/jmg.37.8.627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10991694">Gregory et al. (2000)</a> identified a T-to-C transition at nucleotide 1894, which was predicted to cause a ser600-to-pro (S600P) substitution in the NC1 domain of type X collagen. <a href="#11" class="mim-tip-reference" title="Gregory, C. A., Zabel, B., Grant, M. E., Boot-Handford, R. P., Wallis, G. A. <strong>Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid. (Letter)</strong> J. Med. Genet. 37: 627-629, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10991694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10991694</a>] [<a href="https://doi.org/10.1136/jmg.37.8.627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10991694">Gregory et al. (2000)</a> further demonstrated that mRNA transcribed from both the wildtype and mutant COL10A1 alleles was available for translation in growth plate cartilage from the patient. <a href="#11" class="mim-tip-reference" title="Gregory, C. A., Zabel, B., Grant, M. E., Boot-Handford, R. P., Wallis, G. A. <strong>Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid. (Letter)</strong> J. Med. Genet. 37: 627-629, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10991694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10991694</a>] [<a href="https://doi.org/10.1136/jmg.37.8.627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10991694">Gregory et al. (2000)</a> concluded that the molecular mechanism in MCDS was likely to be dominant interference of normal type X collagen by MCDS mutant chains rather than haploinsufficiency, as was suggested by <a href="#8" class="mim-tip-reference" title="Chan, D., Weng, Y. M., Graham, H. K., Sillence, D. O., Bateman, J. F. <strong>A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in Schmid metaphyseal chondrodysplasia.</strong> J. Clin. Invest. 101: 1490-1499, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525992</a>] [<a href="https://doi.org/10.1172/JCI1976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9525992">Chan et al. (1998)</a> (<a href="/entry/120100#0015">120100.0015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9525992+10991694" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, TRP611TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs111033556 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033556;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=rs111033556" 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=rs111033556" 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=RCV000019034 OR RCV003556046" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019034, RCV003556046" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019034...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a proband with Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#3" class="mim-tip-reference" title="Bateman, J. F., Freddi, S., Nattrass, G., Savarirayan, R. <strong>Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.</strong> Hum. Molec. Genet. 12: 217-225, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12554676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12554676</a>] [<a href="https://doi.org/10.1093/hmg/ddg054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12554676">Bateman et al. (2003)</a> identified a G-to-A transition at position 1832 of the COL10A1 DNA that resulted in a trp611-to-ter (W611X) amino acid change. The authors demonstrated that while mutant mRNA underwent nonsense-mediated decay in cartilage tissue, it was not subjected to nonsense-mediated decay in noncartilage cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12554676" 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 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
COL10A1, TYR663TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2114276588 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2114276588;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=rs2114276588" 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=rs2114276588" 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=RCV000022472" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022472" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022472</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 13-year-old boy with Schmid metaphyseal chondrodysplasia (MCDS; <a href="/entry/156500">156500</a>), <a href="#14" class="mim-tip-reference" title="Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D. <strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong> Hum. Molec. Genet. 16: 1201-1215, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>] [<a href="https://doi.org/10.1093/hmg/ddm067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17403716">Ho et al. (2007)</a> identified heterozygosity for a 1989C-G transversion in exon 3 of the COL10A1 gene, resulting in a tyr663-to-ter (Y663X) substitution and a truncated protein lacking the last 18 amino acids of the NC1 domain. Comparison of normal to mutant mRNA and genomic DNA showed that approximately 50% of mutant mRNA was degraded and the rest was translated into truncated alpha-1(X) chains. In vitro studies demonstrated that the truncated collagen X chains were misfolded, unable to assemble into trimers, and interfered with the assembly of normal alpha-1(X) chains into trimers. An iliac crest cartilage biopsy from the proband showed that the hypertrophic zone of the iliac growth plate was expanded and that the cellular architecture of the hypertrophic zone was disorganized. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Apte1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Apte, S., Mattei, M.-G., Olsen, B. R.
|
|
<strong>Cloning of human alpha-1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6.</strong>
|
|
FEBS Lett. 282: 393-396, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2037056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2037056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2037056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0014-5793(91)80521-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Apte1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Apte, S. S., Seldin, M. F., Hayashi, M., Olsen, B. R.
|
|
<strong>Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10.</strong>
|
|
Europ. J. Biochem. 206: 217-224, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1587271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1587271</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1587271" 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.1432-1033.1992.tb16919.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Bateman2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bateman, J. F., Freddi, S., Nattrass, G., Savarirayan, R.
|
|
<strong>Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.</strong>
|
|
Hum. Molec. Genet. 12: 217-225, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12554676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12554676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12554676" 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/ddg054" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bateman2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bateman, J. F., Wilson, R., Freddi, S., Lamande, S. R., Savarirayan, R.
|
|
<strong>Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.</strong>
|
|
Hum. Mutat. 25: 525-534, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15880705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15880705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15880705" 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.20183" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Bonaventure1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bonaventure, J., Chaminade, F., Maroteaux, P.
|
|
<strong>Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.</strong>
|
|
Hum. Genet. 96: 58-64, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7607655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7607655</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7607655" 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/BF00214187" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Caffey1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Caffey, J. P., Christensen, W. R.
|
|
<strong>Personal Communication.</strong>
|
|
Pittsburgh, Pa. and Salt Lake City, Utah 1963.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Chan2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chan, D., Ho, M. S. P., Cheah, K. S. E.
|
|
<strong>Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia: implications for the molecular basis of the disease.</strong>
|
|
J. Biol. Chem. 276: 7992-7997, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115494" 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.M003361200" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Chan1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chan, D., Weng, Y. M., Graham, H. K., Sillence, D. O., Bateman, J. F.
|
|
<strong>A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in Schmid metaphyseal chondrodysplasia.</strong>
|
|
J. Clin. Invest. 101: 1490-1499, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9525992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9525992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9525992" 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/JCI1976" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Dharmavaram1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dharmavaram, R. M., Elberson, M. A., Peng, M., Kirson, L. A., Kelley, T. E., Jimenez, S. A.
|
|
<strong>Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.</strong>
|
|
Hum. Molec. Genet. 3: 507-509, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012364" 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/3.3.507" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Forouhan2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Forouhan, M., Sonntag, S., Boot-Handford, R. P.
|
|
<strong>Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.</strong>
|
|
Hum. Molec. Genet. 27: 3840-3853, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30010889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30010889</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30010889[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=30010889" 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/ddy253" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Gregory2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gregory, C. A., Zabel, B., Grant, M. E., Boot-Handford, R. P., Wallis, G. A.
|
|
<strong>Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid. (Letter)</strong>
|
|
J. Med. Genet. 37: 627-629, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10991694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10991694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10991694" 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.37.8.627" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Gress2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gress, C. J., Jacenko, O.
|
|
<strong>Growth plate compressions and altered hematopoiesis in collagen X null mice.</strong>
|
|
J. Cell Biol. 149: 983-993, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10811836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10811836</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10811836[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=10811836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1083/jcb.149.4.983" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Hasegawa1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y.
|
|
<strong>Japanese type of spondylo-metaphyseal dysplasia.</strong>
|
|
Pediat. Radiol. 24: 194-197, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7936797" 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/BF02012189" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Ho2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D.
|
|
<strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong>
|
|
Hum. Molec. Genet. 16: 1201-1215, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17403716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17403716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17403716" 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/ddm067" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Ikegawa1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ikegawa, S., Nakamura, K., Nagano, A., Haga, N., Nakamura, Y.
|
|
<strong>Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.</strong>
|
|
Hum. Mutat. 9: 131-135, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9067753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9067753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9067753" 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)9:2<131::AID-HUMU5>3.0.CO;2-C" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Ikegawa1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ikegawa, S., Nishimura, G., Nagai, T., Hasegawa, T., Ohashi, H., Nakamura, Y.
|
|
<strong>Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.</strong>
|
|
Am. J. Hum. Genet. 63: 1659-1662, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9837818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9837818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9837818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/302158" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Jacenko1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jacenko, O., LuValle, P. A., Olsen, B. R.
|
|
<strong>Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition.</strong>
|
|
Nature 365: 56-61, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8361538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8361538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8361538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/365056a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Kirsch1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kirsch, T., von der Mark, K.
|
|
<strong>Isolation of human type X collagen and immunolocalization in fetal human cartilage.</strong>
|
|
Europ. J. Biochem. 196: 575-580, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2013280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2013280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2013280" 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.1432-1033.1991.tb15852.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" 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="20" class="mim-anchor"></a>
|
|
<a id="Makitie2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Makitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F. H., Cole, W. G.
|
|
<strong>Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.</strong>
|
|
Am. J. Med. Genet. 137A: 241-248, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088909" 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.30855" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Marks1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marks, D. S., Gregory, C. A., Wallis, G. A., Brass, A., Kadler, K. E., Boot-Handford, R. P.
|
|
<strong>Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.</strong>
|
|
J. Biol. Chem. 274: 3632-3641, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9920912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9920912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9920912" 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.274.6.3632" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="McIntosh1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McIntosh, I., Abbott, M. H., Francomano, C. A.
|
|
<strong>Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.</strong>
|
|
Hum. Mutat. 5: 121-125, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7749409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7749409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7749409" 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.1380050204" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="McIntosh1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McIntosh, I., Abbott, M. H., Warman, M. L., Olsen, B. R., Francomano, C. A.
|
|
<strong>Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.</strong>
|
|
Hum. Molec. Genet. 3: 303-307, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004099</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004099" 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/3.2.303" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Nielsen2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nielsen, V. H., Bendixen, C., Arnbjerg, J., Sorensen, C. M., Jensen, H. E., Shukri, N. M., Thomsen, B.
|
|
<strong>Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen.</strong>
|
|
Mammalian Genome 11: 1087-1092, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11130976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11130976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11130976" 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/s003350010212" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Pokharel1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pokharel, R. K., Alimsardjono, H., Uno, K., Fujii, S., Shiba, R., Matsuo, M.
|
|
<strong>A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, noncollagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.</strong>
|
|
Biochem. Biophys. Res. Commun. 217: 1157-1162, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8554571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8554571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8554571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bbrc.1995.2890" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Rosati1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rosati, R., Horan, G. S. B., Pinero, G. J., Garofalo, S., Keene, D. R., Horton, W. A., Vuorio, E., de Crombrugghe, B., Behringer, R. R.
|
|
<strong>Normal long bone growth and development in type X collagen-null mice.</strong>
|
|
Nature Genet. 8: 129-135, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7842010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7842010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7842010" 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/ng1094-129" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Sawai1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sawai, H., Ida, A., Nakata, Y., Koyama, K.
|
|
<strong>Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.</strong>
|
|
J. Hum. Genet. 43: 259-261, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9852679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9852679</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9852679" 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/s100380050085" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Schmid1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schmid, T. M., Linsenmayer, T. F.
|
|
<strong>Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues.</strong>
|
|
J. Cell Biol. 100: 598-605, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2578471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2578471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2578471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1083/jcb.100.2.598" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Stephens1943" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stephens, F. E.
|
|
<strong>An achondroplastic mutation and the nature of its inheritance.</strong>
|
|
J. Hered. 34: 229-235, 1943.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Stratakis1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stratakis, C. A., Orban, Z., Burns, A. L., Vottero, A., Mitsiades, C. S., Marx, S. J., Abbassi, V., Chrousos, G. P.
|
|
<strong>Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.</strong>
|
|
Biochem. Molec. Med. 59: 112-117, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8986632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8986632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8986632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bmme.1996.0075" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Sweetman1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sweetman, W. A., Rash, B., Sykes, B., Beighton, P., Hecht, J. T., Zabel, B., Thomas, J. T., Boot-Handford, R., Grant, M. E., Wallis, G. A.
|
|
<strong>SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.</strong>
|
|
Am. J. Hum. Genet. 51: 841-849, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1329505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1329505</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1329505" 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="Tan2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tan, J. T., Kremer, F., Freddi, S., Bell, K. M., Baker, N. L., Lamande, S. R., Bateman, J. F.
|
|
<strong>Competency of nonsense-mediated reduction in collagen X mRNA is specified by the 3-prime UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.</strong>
|
|
Am. J. Hum. Genet. 82: 786-793, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18304492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18304492</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18304492[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=18304492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2008.01.006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Thomas1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thomas, J. T., Cresswell, C. J., Rash, B., Hoyland, J., Freemont, A. J., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>The human collagen X gene: complete primary sequence and reexpression in osteoarthritis.</strong>
|
|
Biochem. Soc. Trans. 19: 804-808, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1794562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1794562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1794562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1042/bst0190804" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Thomas1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thomas, J. T., Cresswell, C. J., Rash, B., Nicolai, H., Jones, T., Solomon, E., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>The human collagen X gene: complete primary translated sequence and chromosomal localization.</strong>
|
|
Biochem. J. 280: 617-623, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1764025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1764025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1764025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1042/bj2800617" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Wallis1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wallis, G. A., Rash, B., Sweetman, W. A., Thomas, J. T., Super, M., Evans, G., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha-I(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.</strong>
|
|
Am. J. Hum. Genet. 54: 169-178, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8304336" 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="36" class="mim-anchor"></a>
|
|
<a id="Wallis1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong>
|
|
J. Med. Genet. 33: 450-457, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8782043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8782043</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8782043" 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.33.6.450" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Warman1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A.
|
|
<strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong>
|
|
Nature Genet. 5: 79-82, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8220429" 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/ng0993-79" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Wilson2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wilson, R., Freddi, S., Bateman, J. F.
|
|
<strong>Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.</strong>
|
|
J. Biol. Chem. 277: 12516-12524, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11805116" 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.M112044200" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Young2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Young, A. E., Ryun, J. R., Bannasch, D. L.
|
|
<strong>Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.</strong>
|
|
Mammalian Genome 17: 761-768, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16845471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16845471</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16845471" 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/s00335-005-0163-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Zheng2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zheng, Q., Zhou, G., Chen, Y., Garcia-Rojas, X., Lee, B.
|
|
<strong>Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo.</strong>
|
|
J. Cell Biol. 162: 833-842, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12952936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12952936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12952936[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=12952936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1083/jcb.200211089" 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">
|
|
Bao Lige - updated : 12/07/2021
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 1/20/2011<br>Victor A. McKusick - updated : 4/14/2008<br>Carol A. Bocchini - updated : 3/14/2007<br>Victor A. McKusick - updated : 10/19/2006<br>Marla J. F. O'Neill - updated : 10/3/2005<br>Victor A. McKusick - updated : 6/24/2005<br>Patricia A. Hartz - updated : 1/18/2005<br>George E. Tiller - updated : 11/15/2004<br>Patricia A. Hartz - updated : 11/18/2002<br>Michael J. Wright - updated : 8/8/2001<br>Victor A. McKusick - updated : 12/15/2000<br>Paul J. Converse - updated : 7/28/2000<br>Victor A. McKusick - updated : 2/20/1999<br>Victor A. McKusick - updated : 12/9/1998<br>Victor A. McKusick - updated : 4/16/1998<br>Victor A. McKusick - updated : 11/17/1997<br>Victor A. McKusick - updated : 6/23/1997<br>Victor A. McKusick - updated : 5/5/1997<br>Iosif W. Lurie - updated : 7/4/1996
|
|
</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 : 2/26/1988
|
|
</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 : 05/04/2022
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/02/2022<br>carol : 04/04/2022<br>carol : 12/09/2021<br>carol : 12/08/2021<br>mgross : 12/07/2021<br>carol : 08/06/2021<br>carol : 06/28/2019<br>alopez : 08/04/2016<br>wwang : 02/03/2011<br>terry : 1/20/2011<br>carol : 6/15/2009<br>alopez : 5/5/2008<br>terry : 4/14/2008<br>carol : 10/16/2007<br>carol : 3/14/2007<br>carol : 3/14/2007<br>terry : 10/19/2006<br>wwang : 10/10/2005<br>terry : 10/3/2005<br>alopez : 6/27/2005<br>terry : 6/24/2005<br>mgross : 1/18/2005<br>alopez : 11/15/2004<br>alopez : 11/15/2004<br>mgross : 11/18/2002<br>cwells : 8/16/2001<br>cwells : 8/10/2001<br>terry : 8/8/2001<br>carol : 12/18/2000<br>terry : 12/15/2000<br>mgross : 7/28/2000<br>carol : 5/13/1999<br>mgross : 3/17/1999<br>mgross : 3/16/1999<br>carol : 2/22/1999<br>terry : 2/20/1999<br>carol : 12/14/1998<br>dkim : 12/14/1998<br>terry : 12/9/1998<br>dkim : 9/11/1998<br>dkim : 6/30/1998<br>carol : 5/2/1998<br>terry : 4/16/1998<br>jenny : 11/19/1997<br>terry : 11/17/1997<br>mark : 6/23/1997<br>terry : 6/20/1997<br>mark : 5/5/1997<br>terry : 4/24/1997<br>carol : 7/10/1996<br>carol : 7/9/1996<br>carol : 7/4/1996<br>mark : 3/4/1996<br>terry : 2/23/1996<br>pfoster : 3/2/1995<br>warfield : 4/7/1994<br>carol : 4/1/1994<br>carol : 10/26/1993<br>carol : 9/17/1993<br>carol : 9/9/1993
|
|
</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> 120110
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
COLLAGEN, TYPE X, ALPHA-1; COL10A1
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: COL10A1</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 29248006;
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 6q22.1
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 6:116,118,909-116,217,144 </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="1">
|
|
<span class="mim-font">
|
|
6q22.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Metaphyseal chondrodysplasia, Schmid type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
156500
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Type X is a short-chain minor collagen of cartilage (Schmid and Linsenmayer, 1985). During development and growth of long bones, chondrocytes pass sequentially through a proliferative, a hypertrophic and a degenerative stage, each characterized by a particular set of collagen types. Proliferative (stage I) chondrocytes synthesize type II collagen as the major collagen and types IX and XI as the minor collagens. Hypertrophic (stage II) chondrocytes localized in the columnar, calcifying cartilage are characterized by the synthesis of types X and II collagen. </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>Kirsch and von der Mark (1991) isolated human type X collagen from fetal human growth plate cartilage and purified it to homogeneity. They raised an antiserum against the purified protein and used the antibody to show the distribution of type X collagen in fetal human growth plate cartilage and in the calcifying zone of fetal human sternum. Possible involvement of the COL10A1 gene in chondrodysplasias and other disorders of cartilage such as osteoarthrosis was suggested. </p><p>Thomas et al. (1991) reported the complete primary sequence of type X collagen. Collagen X is a homotrimer containing 3 identical chains with a relative molecular mass of 59,000. The triple helical domain is approximately half the size of that in collagen of types I, II, and III. The localization of collagen X and its transient expression at sites of calcification suggests that it is associated with events in the later stages of endochondral bone formation. Collagen X possesses striking structural similarities to collagen VIII (120251), another short-chain collagen found predominantly in Descemet membrane, the specialized basement membrane synthesized by corneal endothelial cells. Two exons encode the complete primary translation product, which consists of a putative signal-peptide sequence (18 amino acids), an N-terminal noncollagenous domain (38 amino acids), a triple helix (463 amino acids), and a C-terminal noncollagenous domain (161 amino acids). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Zheng et al. (2003) identified multiple functional RUNX2 (600211)-binding sites within the promoter region of the human, mouse, and chicken COL10A1 genes. In transgenic mouse cells, Runx2 contributed to the transactivation of the Col10a1 promoter. Also, decreased Col10a1 expression and altered chondrocyte hypertrophy were observed in Runx2 heterozygous mice, whereas Col10a1 was barely detectable in Runx2 null mice. Zheng et al. (2003) concluded that COL10A1 is a direct transcriptional target of RUNX2 during chondrogenesis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Thomas et al. (1991) determined that collagen X is encoded by 2 exons of 169 bp and 2,940 bp, which are separated by a 3,200-bp intron. </p><p>Ho et al. (2007) noted that the COL10A1 gene contains 3 exons with a noncoding first exon. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>With consensus primers based on the nucleotide sequence of the chicken type X collagen gene, Apte et al. (1991) used PCR with human genomic DNA as a template to isolate a 289-bp fragment for part of the carboxyl non-triple helical domain of the human gene. Using the PCR clone as a probe for in situ hybridization of human metaphase chromosome spreads and for Southern analysis of a panel of human-hamster somatic cell hybrid DNAs, they assigned the COL10A1 locus to 6q21-q22. Thomas et al. (1991) likewise assigned COL10A1 to 6q21-q22.3 by a combination of somatic cell hybrid screening and in situ hybridization. Apte et al. (1992) demonstrated that this gene is located on mouse chromosome 10. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using PCR and SSCP, Sweetman et al. (1992) identified 7 sequence changes in the coding region of the COL10A1 gene. Six of these were shown to be polymorphic in nature and were used to demonstrate discordant segregation between the COL10A1 locus and both achondroplasia (100800) and pseudoachondroplasia (177170). The seventh sequence change resulted in a val-to-met substitution in the C-terminal domain of the molecule and was identified only in 2 persons with hypochondroplasia (146000) from a single family. Segregation analysis in this family was inconclusive; thus the significance of the substitution remained uncertain. </p><p>Warman et al. (1993) proved that mutation in the COL10A1 gene is responsible for Schmid metaphyseal chondrodysplasia (MCDS; 156500). A number of COL10A1 mutations have been identified in patients with MCDS; each is within the C-terminal noncollagenous (NC1) domain and it has been suggested that the phenotype is the result of the inability of the mutant polypeptide to initiate trimer formation (Warman et al., 1993; McIntosh et al. (1994, 1995)). </p><p>Wallis et al. (1996) reviewed the 21 known mutations in the COL10A1 gene that have been associated with the Schmid type of metaphyseal chondrodysplasia and noted that all occur in the region of COL10A1 encoding the C-terminal NC1 domain. They contended that the restricted distribution of COL10A1 mutations causing MCDS argues against haploinsufficiency being the mutation mechanism in this disorder. </p><p>Warman et al. (1993) and Wallis et al. (1996) found no mutations in the COL10A1 gene in patients with other types of metaphyseal chondrodysplasia. Ikegawa et al. (1997) found 2 de novo missense mutations in the N-terminal globular domain of the type X collagen gene. Previously reported mutations had all involved the C-terminal globular domain. The clinical phenotype for MCDS was typical in these Japanese patients. </p><p>Kuivaniemi et al. (1997) tabulated 17 different mutations in the COL10A1 gene that had been identified in patients with MCDS. </p><p>Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. Ikegawa et al. (1998) examined the entire coding region of COL10A1 in a search for mutations in 5 unrelated patients with SMD because Schmid metaphyseal chondrodysplasia shows significant phenotypic overlap with SMD, and because transgenic mice carrying deletions in type X collagen show SMD phenotypes (Jacenko et al., 1993). They found a heterozygous missense mutation (120110.0016) cosegregating with the disease phenotype in 1 SMD family. The 1 patient in whom the COL10A1 mutation was found had been described by Hasegawa et al. (1994) as having a novel type of SMD called the Japanese type. Four other unrelated Japanese patients who were studied were sporadic instances of SMD. Two of them were thought to have the Kozlowski type (184252); one had the corner fracture type (184255), and one had an unspecified form of SMD. No mutation was found in these 4 cases. </p><p>By molecular modeling of the C-terminal NC1 domain of mutated recombinant COL10A1, Marks et al. (1999) determined that many of the mutations that result in MCDS are localized to 2 specific regions of the folded monomeric NC1 domain. By mutation analysis, they showed that NC1 domains containing the tyr598-to-asp (Y598D; 120110.0002) and ser600-to-pro (S600P; 120110.0018) mutations retained the ability to form trimers, although these trimers showed less thermal stability than wildtype molecules. </p><p>Wilson et al. (2002) analyzed the expression and degradation of COL10A1 mutations in patient cartilage tissue and in transfected cells. They found that COL10A1 carrying the Y598D mutation or a frameshift mutation resulted in proteins that were fully degraded, resulting in 50% less functional collagen X within patient growth plates. Wilson et al. (2002) determined that the mutant chains were capable of triple helix formation. When transfected into osteosarcoma cells, however, the mutants were expressed at the mRNA level, but the protein was not secreted. Inhibitor studies indicated that the mutant collagens remained associated with the endoplasmic reticulum and were degraded by both the proteasome and lysosome degradation pathways. </p><p>Chan et al. (2001) determined that COL10A1 harboring mutations in or near the N-terminal signal sequence, such as gly18 to arg (G18R; 120110.0012), result in chains that can associate into trimers, but the signal peptide is not removed and the trimers cannot form a triple helix. The mutant chains remain anchored to the membrane of microsomes and are not secreted. </p><p>In 2 MCDS patients with COL10A1 nonsense mutations, trp611 to ter (120110.0019) and tyr632 to ter (120110.0015), Bateman et al. (2003) showed that the mutated alleles underwent complete nonsense-mediated mRNA decay (NMD) in cartilage, but not in lymphoblasts or bone cells. The authors suggested that novel RNA surveillance mechanisms may exist in cartilage, and that tissue specificity of NMD could be of importance in understanding the molecular pathology of nonsense mutations. </p><p>Makitie et al. (2005) reported 10 patients with MCDS and COL10A1 mutations in whom the most characteristic radiographic findings were found in the proximal femoral metaphysis, which showed metaphyseal irregularity, coxa vara, and a vertical growth plate in all the patients. Makitie et al. (2005) concluded that type X collagen plays a key role in femoral neck development and may be an important determinant of its length, width, and neck-shaft angle. </p><p>Chan et al. (1998) demonstrated lack of mutant RNA in the growth plate cartilage of a patient with MCDS and suggested that haploinsufficiency was the molecular basis of MCDS. Gregory et al. (2000), however, demonstrated the presence of both mutant and normal mRNA in the growth plate of a patient with MCDS and suggested that a dominant-negative effect was more likely to be the molecular basis of MCDS. </p><p>Bateman et al. (2005) stated that 33 unique heterozygous mutations in the COL10A1 gene had been described in 36 cases of Schmid metaphyseal chondrodysplasia and that these were about equally divided between missense mutations and mutations that introduced premature termination signals. These mutations were clustered (33 of 36 patients) in the 3-prime region of exon 3, which codes for the C-terminal NC1 trimerization domain. In the case of COL10A1 missense mutations, a common consequence appeared to be a disruption of collagen X trimerization and secretion, with consequent intracellular degradation. COL10A1 nonsense mutations in cartilage tissue lead to removal of the mutant RNA by nonsense-mediated mRNA decay (NMD). Thus, for both classes of mutations, functional haploinsufficiency is the most probable cause of the clinical phenotype in MCDS. </p><p>In a 13-year-old boy with MCDS, Ho et al. (2007) identified heterozygosity for a nonsense mutation in COL10A1 (Y663X; 120110.0020). Approximately 50% of mutant Y663X mRNA was translated into truncated alpha-1(X) chains that were misfolded, unable to assemble into trimers, and interfered with the assembly of normal alpha-1(X) chains into trimers. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Jacenko et al. (1993) produced a spondylometaphyseal dysplasia in mice by a transgenic dominant-negative mutation in type X collagen. Of interest, Rosati et al. (1994) observed normal long bone growth and development in mice expressing no type X collagen. This finding supports the contention that Schmid metaphyseal chondrodysplasia is the result of a dominant-negative effect of mutant collagen polypeptide and not the deficiency of normal type X collagen as suggested previously (Warman et al., 1993; McIntosh et al. (1994, 1995)) </p><p>Gress and Jacenko (2000) showed that transgenic and knockout mice with inactivated Col10a1 manifest variable phenotypes reflecting certain skeletohematopoietic defects. A subset of the knockout mice (approximately 11%) died 3 weeks after birth, and others continued to exhibit defects with age. Defects included erythrocyte predominance in marrow, reduced spleen and thymus size, altered B and T lymphocyte development, aberrant endochondral ossification, and dwarfism. </p><p>Nielsen et al. (2000) showed that a dominant form of skeletal dysplasia in domestic pigs is due to a gly590-to-arg missense mutation in the COL10A1 gene, and thus is a valid animal model of Schmid metaphyseal chondrodysplasia, which it resembles on radiologic and histologic grounds. </p><p>Similarities between Schmid metaphyseal chondrodysplasia and short stature in various dog breeds suggested COL10A1 as a candidate for canine skeletal dysplasia. Young et al. (2006) reported the sequencing of the exons and promoter region of the COL10A1 gene in dog breeds fixed for a specific type of skeletal dysplasia known as chondrodysplasia, breeds that segregate the skeletal dysplasia phenotype, and control dogs of normal stature. They could find no evidence that the skeletal dysplasia phenotype in these dog breeds is related to COL10A1. </p><p>Ho et al. (2007) studied transgenic mice bearing the equivalent of a human 1859delC frameshift mutation (120110.0005), which displayed typical characteristics of MCDS including disproportionate shortening of limbs and early onset coxa vara. The degree of expansion of the hypertrophic zones was noted to be transgene dosage-dependent, being most severe in mice homozygous for the transgene, and chondrocytes in the lower region of the expanded hypertrophic zone expressed markers uncharacteristic of hypertrophic chondrocytes, indicating that differentiation was disrupted. Misfolded mutant alpha-1(X) chains were retained within the endoplasmic reticulum (ER) of hypertrophic chondrocytes, activating the unfolded protein response. Ho et al. (2007) suggested that a gain-of-function effect, linked to the activation of the ER-stress response and altered chondrocyte differentiation, was a possible molecular pathogenetic mechanism for MCDS. </p><p>Nonsense-mediated decay (NMD) is a eukaryotic cellular RNA surveillance and quality control mechanism that degrades mRNA containing premature stop codons (nonsense mutations) that otherwise might exert a deleterious effect by the production of dysfunctional truncated proteins. Nonsense mutations in type X collagen causing Schmid metaphyseal chondrodysplasia are localized in a region toward the 3-prime end of the last exon (exon 3) and result in mRNA decay, in contrast to most other genes in which terminal-exon nonsense mutations are resistant to NMD. To explore the mechanism of last-exon mRNA decay of COL10A1, Tan et al. (2008) introduced nonsense mutations into the mouse Col10a1 gene and expressed these in a hypertrophic-chondrocyte cell line. They demonstrated that mRNA decay is spatially restricted to mutations occurring in a 3-prime region of the exon 3 coding sequence, and this region corresponds to that in which human mutations have been described. This localization of mRNA decay competency suggested that a downstream region, such as the 3-prime untranslated region (UTR), may play a role in specifying decay of mutant Col10a1 mRNA containing nonsense mutations. Tan et al. (2008) found that deleting any of the 3 conserved sequence regions within the 3-prime UTR prevented mutant mRNA decay. These data suggested that the 3-prime UTR participates in collagen X last-exon mRNA decay and that overall 3-prime UTR configuration, rather than specific linear sequence motifs, may be important in specifying decay of COL10A1 mRNA containing nonsense mutations. </p><p>Forouhan et al. (2018) generated mice homozygous or heterozygous for the Col10a1 mutation Y632X (120110.0015), which causes MCDS in humans. In contrast with the human MCDS patient heterozygous for Y632X, who expressed only the normal allele, Y632X mRNA in mice had the same stability as wildtype mRNA and did not undergo NMD. Regardless, both heterozygous and homozygous mutant mice grew slower than wildtype and had a robust MCDS phenotype. Mutant mice of either genotype had increased ER stress, and the Y632X protein induced a significant unfolded protein response. Histologic characterization revealed disrupted hypertrophic differentiation in growth plates of mice expressing the truncated mutant protein. Treatment of mutant mice with carbamazepine significantly reduced disease severity and ER stress and improved hypertrophic differentiation in growth plates. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>20 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, 13-BP DEL, NT1856
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000019016
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Mormon kindred with autosomal dominant Schmid metaphyseal chondrodysplasia (MCDS; 156500) reported by Stephens (1943) as an example of achondroplasia and studied by Caffey and Christensen (1963), Warman et al. (1993) identified a 13-bp deletion starting with basepair 1856 in heterozygous state in the COL10A1 gene. The mutation produced a frameshift that altered the highly conserved C-terminal domain of the alpha-1(X) chain and reduced the length of the polypeptide by 9 residues. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, TYR598ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033544,
|
|
|
|
|
|
|
|
ClinVar: RCV000019017, RCV001851928
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using PCR and SSCP techniques to analyze the coding and upstream promoter regions of the COL10A1 gene, Wallis et al. (1994) identified heterozygosity for a single basepair transition that led to substitution of the highly conserved amino acid residue tyrosine at position 598 by aspartic acid (Y598D) in 5 affected members of a family with Schmid type metaphyseal chondrodysplasia (MCDS; 156500). The mutation was located within the carboxyl-terminal domain of the type X collagen chains. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, LEU614PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033545,
|
|
|
|
|
|
|
|
ClinVar: RCV000019018
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of Schmid type metaphyseal chondrodysplasia (MCDS; 156500), Wallis et al. (1994) identified a 1-bp transition in the COL10A1 gene, resulting in a substitution of leucine-614 by proline (L614P). The mutation was located within the carboxyl-terminal domain of the type X collagen chains. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, CYS591ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033546,
|
|
|
|
|
|
|
|
ClinVar: RCV000019019, RCV001851929
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using PCR and SSCP analyses to examine the coding region of the COL10A1 gene, McIntosh et al. (1994) identified a single bp T-to-C transition that led to the substitution of the cysteine residue at position 591 by arginine (C591R) in a single, sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; 156500). This residue is conserved across species and may be essential for intermolecular disulfide bridge formation prior to triple helix formation. The proband's unaffected mother proved to be somatic mosaic for the C591R mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, 1-BP DEL, 1856C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1562122372,
|
|
|
|
|
|
|
|
ClinVar: RCV000019020
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; 156500), McIntosh et al. (1994) identified a single base deletion of a cytosine residue (1856delC) in a span of 4 cytosines in exon 3 of the COL10A1 gene by PCR and SSCP analysis, which was predicted to result in frameshift and a premature termination codon after amino acid 620. Ho et al. (2007) referred to this mutation as 1859delC. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, 2-BP DEL, FS665TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1779064401,
|
|
|
|
|
|
|
|
ClinVar: RCV001352554, RCV002259553
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>McIntosh et al. (1994) identified a 2-bp deletion in a sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; 156500) which would be predicted to introduce a premature stop codon after amino acid 664 in COL10A1. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, 10-BP DEL, NT1867
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2114277685,
|
|
|
|
|
|
|
|
ClinVar: RCV001933655, RCV002259555
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Heteroduplex analysis of PCR-amplified genomic DNA identified a 10-bp deletion in COL10A1 starting from nucleotide 1867 that segregated with Schmid metaphyseal chondrodysplasia (MCDS; 156500) in a 5-generation pedigree (Dharmavaram et al., 1994). The deletion overlaps that identified by Warman et al. (1993) (120110.0001) and gives rise to the same downstream protein sequence. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, 2-BP DEL, NT1856
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1562122372,
|
|
|
|
|
|
|
|
ClinVar: RCV000019023
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Another 2-bp deletion was identified in a sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; 156500) by McIntosh et al. (1995), coincidentally at the same position in COL10A1 as the deletion of the single base at 1856 in 120110.0005 and the start of the 13-bp deletion described previously (120110.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, TYR628TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033543,
|
|
|
|
|
|
|
|
ClinVar: RCV000019024
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>A tyr628-to-ter (Y628X) mutation of COL10A1 was identified in a sporadic case of Schmid metaphyseal chondrodysplasia (MCDAS; 156500) by McIntosh et al. (1995). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, TRP651TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033547,
|
|
|
|
|
|
|
|
ClinVar: RCV000019025
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using PCR and SSCP, McIntosh et al. (1995) identified a trp651-to-ter mutation (W651X) of the COL10A1 gene in a sporadic case of Schmid metaphyseal chondrodysplasia (MCDS; 156500). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, TRP651ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033549,
|
|
|
|
|
|
|
|
ClinVar: RCV000019026, RCV002513115
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese family with Schmid metaphyseal chondrodysplasia (MCDS; 156500), Pokharel et al. (1995) found that affected members had a T-to-C transition at nucleotide 1951 of COL10A1 that resulted in replacement of tryptophan by arginine at residue 651 (W651R). This novel mutation seemed to have the same impact on bone development as the W651X mutation (120110.0010). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, GLY18ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033550,
|
|
|
|
|
|
|
|
ClinVar: RCV000019027
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with typical Schmid metaphyseal chondrodysplasia (MCDS; 156500), Ikegawa et al. (1997) found a heterozygous 52G-A transition of COL10A1 that caused replacement of a glycine residue by arginine at codon 18 (G18R). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, GLY18GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033551,
|
|
|
|
|
|
|
|
ClinVar: RCV000019028, RCV001378530
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with typical Schmid metaphyseal chondrodysplasia (MCDS; 156500), Ikegawa et al. (1997) found a heterozygous 53G-A transition of COL10A1 that caused replacement of a glycine residue by glutamic acid at codon 18 (G18E). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, SER671PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033552,
|
|
|
|
|
|
|
|
ClinVar: RCV000019029, RCV001385329
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 members of a family affected by Schmid metaphyseal chondrodysplasia (MCDS; 156500), Stratakis et al. (1996) identified a T-to-C transition at nucleotide 2011 of the COL10A1 gene, resulting in a ser671-to-pro (S671P) substitution. The mother in this family, a 36-year-old woman with a height of 140 cm, had mild bilateral coxa vara. Her 2 sons, who had been delivered vaginally, had normal birth length and weight. Both had normal early development but developed leg bowing when they started walking. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, TYR632TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033548,
|
|
|
|
|
|
|
|
ClinVar: RCV000019030, RCV001851930
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Chan et al. (1998) obtained growth plate cartilage from a patient with Schmid metaphyseal chondrodysplasia (MCDS; 156500), determined the type of collagen X mutation, and analyzed the expression of mutant and normal type X collagen mRNA and protein. The mutation was found to be a single nucleotide substitution that changed the tyr632 codon (TAC) to a stop codon (TAA). However, analysis of the expression of the normal and mutant allele transcripts in growth plate cartilage by reverse transcription PCR, restriction enzyme mapping, and a single nucleotide primer extension assay demonstrated that only normal mRNA was present. The lack of mutant mRNA is most likely the result of nonsense-mediated mRNA decay, a common fate of transcripts carrying premature termination mutations. Furthermore, no mutant protein was detected by immunoblotting cartilage extracts. The data indicated that a functionally null allele leading to type X collagen haploinsufficiency is the molecular basis of MCDS in this patient. </p><p>Bateman et al. (2003) demonstrated that Y632X mutant mRNA underwent nonsense-mediated decay in cartilage tissue but not in noncartilage cells. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, GLY595GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033553,
|
|
|
|
|
|
|
|
ClinVar: RCV000019031, RCV001851931
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with the Schmid type of metaphyseal chondrodysplasia (MCDS; 156500), Bonaventure et al. (1995) identified heterozygosity for a 1784G-A transition in the COL10A1 gene, resulting in a gly595-to-glu (G595E) substitution. </p><p>Hasegawa et al. (1994) described a Japanese family with a form of autosomal dominant spondylometaphyseal dysplasia that they termed the Japanese type (see 156500). In affected members of this family, Ikegawa et al. (1998) identified the G595E mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, TYR597CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033554,
|
|
|
|
|
|
|
|
ClinVar: RCV000019032
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese girl with the clinical diagnosis of sporadic Schmid metaphyseal chondrodysplasia (MCDS; 156500), Sawai et al. (1998) demonstrated a tyr597-to-cys (Y597C) mutation in the COL10A1 gene. Both parents lacked the mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, SER600PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033555,
|
|
|
|
|
|
|
|
ClinVar: RCV000019033, RCV001851932
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with Schmid metaphyseal chondrodysplasia (MCDS; 156500), Gregory et al. (2000) identified a T-to-C transition at nucleotide 1894, which was predicted to cause a ser600-to-pro (S600P) substitution in the NC1 domain of type X collagen. Gregory et al. (2000) further demonstrated that mRNA transcribed from both the wildtype and mutant COL10A1 alleles was available for translation in growth plate cartilage from the patient. Gregory et al. (2000) concluded that the molecular mechanism in MCDS was likely to be dominant interference of normal type X collagen by MCDS mutant chains rather than haploinsufficiency, as was suggested by Chan et al. (1998) (120100.0015). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, TRP611TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111033556,
|
|
|
|
|
|
|
|
ClinVar: RCV000019034, RCV003556046
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a proband with Schmid metaphyseal chondrodysplasia (MCDS; 156500), Bateman et al. (2003) identified a G-to-A transition at position 1832 of the COL10A1 DNA that resulted in a trp611-to-ter (W611X) amino acid change. The authors demonstrated that while mutant mRNA underwent nonsense-mediated decay in cartilage tissue, it was not subjected to nonsense-mediated decay in noncartilage cells. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
COL10A1, TYR663TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2114276588,
|
|
|
|
|
|
|
|
ClinVar: RCV000022472
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 13-year-old boy with Schmid metaphyseal chondrodysplasia (MCDS; 156500), Ho et al. (2007) identified heterozygosity for a 1989C-G transversion in exon 3 of the COL10A1 gene, resulting in a tyr663-to-ter (Y663X) substitution and a truncated protein lacking the last 18 amino acids of the NC1 domain. Comparison of normal to mutant mRNA and genomic DNA showed that approximately 50% of mutant mRNA was degraded and the rest was translated into truncated alpha-1(X) chains. In vitro studies demonstrated that the truncated collagen X chains were misfolded, unable to assemble into trimers, and interfered with the assembly of normal alpha-1(X) chains into trimers. An iliac crest cartilage biopsy from the proband showed that the hypertrophic zone of the iliac growth plate was expanded and that the cellular architecture of the hypertrophic zone was disorganized. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Apte, S., Mattei, M.-G., Olsen, B. R.
|
|
<strong>Cloning of human alpha-1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6.</strong>
|
|
FEBS Lett. 282: 393-396, 1991.
|
|
|
|
|
|
[PubMed: 2037056]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-5793(91)80521-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Apte, S. S., Seldin, M. F., Hayashi, M., Olsen, B. R.
|
|
<strong>Cloning of the human and mouse type X collagen genes and mapping of the mouse type X collagen gene to chromosome 10.</strong>
|
|
Europ. J. Biochem. 206: 217-224, 1992.
|
|
|
|
|
|
[PubMed: 1587271]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1432-1033.1992.tb16919.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bateman, J. F., Freddi, S., Nattrass, G., Savarirayan, R.
|
|
<strong>Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.</strong>
|
|
Hum. Molec. Genet. 12: 217-225, 2003.
|
|
|
|
|
|
[PubMed: 12554676]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddg054]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bateman, J. F., Wilson, R., Freddi, S., Lamande, S. R., Savarirayan, R.
|
|
<strong>Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.</strong>
|
|
Hum. Mutat. 25: 525-534, 2005.
|
|
|
|
|
|
[PubMed: 15880705]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20183]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bonaventure, J., Chaminade, F., Maroteaux, P.
|
|
<strong>Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias.</strong>
|
|
Hum. Genet. 96: 58-64, 1995.
|
|
|
|
|
|
[PubMed: 7607655]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00214187]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Caffey, J. P., Christensen, W. R.
|
|
<strong>Personal Communication.</strong>
|
|
Pittsburgh, Pa. and Salt Lake City, Utah 1963.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chan, D., Ho, M. S. P., Cheah, K. S. E.
|
|
<strong>Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia: implications for the molecular basis of the disease.</strong>
|
|
J. Biol. Chem. 276: 7992-7997, 2001.
|
|
|
|
|
|
[PubMed: 11115494]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M003361200]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chan, D., Weng, Y. M., Graham, H. K., Sillence, D. O., Bateman, J. F.
|
|
<strong>A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in Schmid metaphyseal chondrodysplasia.</strong>
|
|
J. Clin. Invest. 101: 1490-1499, 1998.
|
|
|
|
|
|
[PubMed: 9525992]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI1976]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dharmavaram, R. M., Elberson, M. A., Peng, M., Kirson, L. A., Kelley, T. E., Jimenez, S. A.
|
|
<strong>Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia.</strong>
|
|
Hum. Molec. Genet. 3: 507-509, 1994.
|
|
|
|
|
|
[PubMed: 8012364]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.3.507]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Forouhan, M., Sonntag, S., Boot-Handford, R. P.
|
|
<strong>Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.</strong>
|
|
Hum. Molec. Genet. 27: 3840-3853, 2018.
|
|
|
|
|
|
[PubMed: 30010889]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddy253]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gregory, C. A., Zabel, B., Grant, M. E., Boot-Handford, R. P., Wallis, G. A.
|
|
<strong>Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid. (Letter)</strong>
|
|
J. Med. Genet. 37: 627-629, 2000.
|
|
|
|
|
|
[PubMed: 10991694]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.37.8.627]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gress, C. J., Jacenko, O.
|
|
<strong>Growth plate compressions and altered hematopoiesis in collagen X null mice.</strong>
|
|
J. Cell Biol. 149: 983-993, 2000.
|
|
|
|
|
|
[PubMed: 10811836]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1083/jcb.149.4.983]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hasegawa, T., Kozlowski, K., Nishimura, G., Hara, H., Hasegawa, Y., Aso, T., Koto, S., Nagai, T., Tsuchiya, Y.
|
|
<strong>Japanese type of spondylo-metaphyseal dysplasia.</strong>
|
|
Pediat. Radiol. 24: 194-197, 1994.
|
|
|
|
|
|
[PubMed: 7936797]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02012189]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ho, M. S. P., Tsang, K. Y., Lo, R. L. K., Susic, M., Makitie, O., Chan, T. W. Y., Ng, V. C. W., Sillence, D. O., Boot-Handford, R. P., Gibson, G., Cheung, K. M. C., Cole, W. G., Cheah, K. S. E., Chan, D.
|
|
<strong>COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.</strong>
|
|
Hum. Molec. Genet. 16: 1201-1215, 2007.
|
|
|
|
|
|
[PubMed: 17403716]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddm067]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ikegawa, S., Nakamura, K., Nagano, A., Haga, N., Nakamura, Y.
|
|
<strong>Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.</strong>
|
|
Hum. Mutat. 9: 131-135, 1997.
|
|
|
|
|
|
[PubMed: 9067753]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ikegawa, S., Nishimura, G., Nagai, T., Hasegawa, T., Ohashi, H., Nakamura, Y.
|
|
<strong>Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.</strong>
|
|
Am. J. Hum. Genet. 63: 1659-1662, 1998.
|
|
|
|
|
|
[PubMed: 9837818]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302158]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jacenko, O., LuValle, P. A., Olsen, B. R.
|
|
<strong>Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition.</strong>
|
|
Nature 365: 56-61, 1993.
|
|
|
|
|
|
[PubMed: 8361538]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/365056a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kirsch, T., von der Mark, K.
|
|
<strong>Isolation of human type X collagen and immunolocalization in fetal human cartilage.</strong>
|
|
Europ. J. Biochem. 196: 575-580, 1991.
|
|
|
|
|
|
[PubMed: 2013280]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1432-1033.1991.tb15852.x]
|
|
|
|
|
|
</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">
|
|
Makitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F. H., Cole, W. G.
|
|
<strong>Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.</strong>
|
|
Am. J. Med. Genet. 137A: 241-248, 2005.
|
|
|
|
|
|
[PubMed: 16088909]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30855]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marks, D. S., Gregory, C. A., Wallis, G. A., Brass, A., Kadler, K. E., Boot-Handford, R. P.
|
|
<strong>Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.</strong>
|
|
J. Biol. Chem. 274: 3632-3641, 1999.
|
|
|
|
|
|
[PubMed: 9920912]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.274.6.3632]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McIntosh, I., Abbott, M. H., Francomano, C. A.
|
|
<strong>Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.</strong>
|
|
Hum. Mutat. 5: 121-125, 1995.
|
|
|
|
|
|
[PubMed: 7749409]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380050204]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McIntosh, I., Abbott, M. H., Warman, M. L., Olsen, B. R., Francomano, C. A.
|
|
<strong>Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.</strong>
|
|
Hum. Molec. Genet. 3: 303-307, 1994.
|
|
|
|
|
|
[PubMed: 8004099]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/3.2.303]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nielsen, V. H., Bendixen, C., Arnbjerg, J., Sorensen, C. M., Jensen, H. E., Shukri, N. M., Thomsen, B.
|
|
<strong>Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen.</strong>
|
|
Mammalian Genome 11: 1087-1092, 2000.
|
|
|
|
|
|
[PubMed: 11130976]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s003350010212]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pokharel, R. K., Alimsardjono, H., Uno, K., Fujii, S., Shiba, R., Matsuo, M.
|
|
<strong>A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, noncollagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia.</strong>
|
|
Biochem. Biophys. Res. Commun. 217: 1157-1162, 1995.
|
|
|
|
|
|
[PubMed: 8554571]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1995.2890]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rosati, R., Horan, G. S. B., Pinero, G. J., Garofalo, S., Keene, D. R., Horton, W. A., Vuorio, E., de Crombrugghe, B., Behringer, R. R.
|
|
<strong>Normal long bone growth and development in type X collagen-null mice.</strong>
|
|
Nature Genet. 8: 129-135, 1994.
|
|
|
|
|
|
[PubMed: 7842010]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1094-129]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sawai, H., Ida, A., Nakata, Y., Koyama, K.
|
|
<strong>Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.</strong>
|
|
J. Hum. Genet. 43: 259-261, 1998.
|
|
|
|
|
|
[PubMed: 9852679]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s100380050085]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schmid, T. M., Linsenmayer, T. F.
|
|
<strong>Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues.</strong>
|
|
J. Cell Biol. 100: 598-605, 1985.
|
|
|
|
|
|
[PubMed: 2578471]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1083/jcb.100.2.598]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stephens, F. E.
|
|
<strong>An achondroplastic mutation and the nature of its inheritance.</strong>
|
|
J. Hered. 34: 229-235, 1943.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stratakis, C. A., Orban, Z., Burns, A. L., Vottero, A., Mitsiades, C. S., Marx, S. J., Abbassi, V., Chrousos, G. P.
|
|
<strong>Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.</strong>
|
|
Biochem. Molec. Med. 59: 112-117, 1996.
|
|
|
|
|
|
[PubMed: 8986632]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bmme.1996.0075]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sweetman, W. A., Rash, B., Sykes, B., Beighton, P., Hecht, J. T., Zabel, B., Thomas, J. T., Boot-Handford, R., Grant, M. E., Wallis, G. A.
|
|
<strong>SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.</strong>
|
|
Am. J. Hum. Genet. 51: 841-849, 1992.
|
|
|
|
|
|
[PubMed: 1329505]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tan, J. T., Kremer, F., Freddi, S., Bell, K. M., Baker, N. L., Lamande, S. R., Bateman, J. F.
|
|
<strong>Competency of nonsense-mediated reduction in collagen X mRNA is specified by the 3-prime UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.</strong>
|
|
Am. J. Hum. Genet. 82: 786-793, 2008.
|
|
|
|
|
|
[PubMed: 18304492]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2008.01.006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thomas, J. T., Cresswell, C. J., Rash, B., Hoyland, J., Freemont, A. J., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>The human collagen X gene: complete primary sequence and reexpression in osteoarthritis.</strong>
|
|
Biochem. Soc. Trans. 19: 804-808, 1991.
|
|
|
|
|
|
[PubMed: 1794562]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/bst0190804]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thomas, J. T., Cresswell, C. J., Rash, B., Nicolai, H., Jones, T., Solomon, E., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>The human collagen X gene: complete primary translated sequence and chromosomal localization.</strong>
|
|
Biochem. J. 280: 617-623, 1991.
|
|
|
|
|
|
[PubMed: 1764025]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/bj2800617]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wallis, G. A., Rash, B., Sweetman, W. A., Thomas, J. T., Super, M., Evans, G., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha-I(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.</strong>
|
|
Am. J. Hum. Genet. 54: 169-178, 1994.
|
|
|
|
|
|
[PubMed: 8304336]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wallis, G. A., Rash, B., Sykes, B., Bonaventure, J., Maroteaux, P., Zabel, B., Wynne-Davies, R., Grant, M. E., Boot-Handford, R. P.
|
|
<strong>Mutations within the gene encoding the alpha-1(X) chain of type X collagen (COL1A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.</strong>
|
|
J. Med. Genet. 33: 450-457, 1996.
|
|
|
|
|
|
[PubMed: 8782043]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.33.6.450]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Warman, M. L., Abbott, M., Apte, S. S., Hefferon, T., McIntosh, I., Cohn, D. H., Hecht, J. T., Olsen, B. R., Francomano, C. A.
|
|
<strong>A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.</strong>
|
|
Nature Genet. 5: 79-82, 1993.
|
|
|
|
|
|
[PubMed: 8220429]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0993-79]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wilson, R., Freddi, S., Bateman, J. F.
|
|
<strong>Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.</strong>
|
|
J. Biol. Chem. 277: 12516-12524, 2002.
|
|
|
|
|
|
[PubMed: 11805116]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M112044200]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Young, A. E., Ryun, J. R., Bannasch, D. L.
|
|
<strong>Deletions in the COL10A1 gene are not associated with skeletal changes in dogs.</strong>
|
|
Mammalian Genome 17: 761-768, 2006.
|
|
|
|
|
|
[PubMed: 16845471]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00335-005-0163-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zheng, Q., Zhou, G., Chen, Y., Garcia-Rojas, X., Lee, B.
|
|
<strong>Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo.</strong>
|
|
J. Cell Biol. 162: 833-842, 2003.
|
|
|
|
|
|
[PubMed: 12952936]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1083/jcb.200211089]
|
|
|
|
|
|
</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">
|
|
Bao Lige - updated : 12/07/2021<br>Marla J. F. O'Neill - updated : 1/20/2011<br>Victor A. McKusick - updated : 4/14/2008<br>Carol A. Bocchini - updated : 3/14/2007<br>Victor A. McKusick - updated : 10/19/2006<br>Marla J. F. O'Neill - updated : 10/3/2005<br>Victor A. McKusick - updated : 6/24/2005<br>Patricia A. Hartz - updated : 1/18/2005<br>George E. Tiller - updated : 11/15/2004<br>Patricia A. Hartz - updated : 11/18/2002<br>Michael J. Wright - updated : 8/8/2001<br>Victor A. McKusick - updated : 12/15/2000<br>Paul J. Converse - updated : 7/28/2000<br>Victor A. McKusick - updated : 2/20/1999<br>Victor A. McKusick - updated : 12/9/1998<br>Victor A. McKusick - updated : 4/16/1998<br>Victor A. McKusick - updated : 11/17/1997<br>Victor A. McKusick - updated : 6/23/1997<br>Victor A. McKusick - updated : 5/5/1997<br>Iosif W. Lurie - updated : 7/4/1996
|
|
</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 : 2/26/1988
|
|
</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 : 05/04/2022<br>carol : 05/02/2022<br>carol : 04/04/2022<br>carol : 12/09/2021<br>carol : 12/08/2021<br>mgross : 12/07/2021<br>carol : 08/06/2021<br>carol : 06/28/2019<br>alopez : 08/04/2016<br>wwang : 02/03/2011<br>terry : 1/20/2011<br>carol : 6/15/2009<br>alopez : 5/5/2008<br>terry : 4/14/2008<br>carol : 10/16/2007<br>carol : 3/14/2007<br>carol : 3/14/2007<br>terry : 10/19/2006<br>wwang : 10/10/2005<br>terry : 10/3/2005<br>alopez : 6/27/2005<br>terry : 6/24/2005<br>mgross : 1/18/2005<br>alopez : 11/15/2004<br>alopez : 11/15/2004<br>mgross : 11/18/2002<br>cwells : 8/16/2001<br>cwells : 8/10/2001<br>terry : 8/8/2001<br>carol : 12/18/2000<br>terry : 12/15/2000<br>mgross : 7/28/2000<br>carol : 5/13/1999<br>mgross : 3/17/1999<br>mgross : 3/16/1999<br>carol : 2/22/1999<br>terry : 2/20/1999<br>carol : 12/14/1998<br>dkim : 12/14/1998<br>terry : 12/9/1998<br>dkim : 9/11/1998<br>dkim : 6/30/1998<br>carol : 5/2/1998<br>terry : 4/16/1998<br>jenny : 11/19/1997<br>terry : 11/17/1997<br>mark : 6/23/1997<br>terry : 6/20/1997<br>mark : 5/5/1997<br>terry : 4/24/1997<br>carol : 7/10/1996<br>carol : 7/9/1996<br>carol : 7/4/1996<br>mark : 3/4/1996<br>terry : 2/23/1996<br>pfoster : 3/2/1995<br>warfield : 4/7/1994<br>carol : 4/1/1994<br>carol : 10/26/1993<br>carol : 9/17/1993<br>carol : 9/9/1993
|
|
</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>
|
|
|
|
|