6007 lines
519 KiB
Text
6007 lines
519 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
|
|
|
|
- *157660 - MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
|
|
|
|
|
|
- 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=157660"><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">*157660</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="#biochemicalFeatures">Biochemical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneFunction">Gene Function</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#history">History</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/157660">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=ENSG00000277027;t=ENST00000363046" 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=6023" 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=157660" 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=ENSG00000277027;t=ENST00000363046" 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</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NR_003051" 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://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=157660" 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://www.proteinatlas.org/search/RMRP" 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>
|
|
</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=6023" 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=ENSG00000277027;t=ENST00000363046" 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=RMRP" 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=RMRP" 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+6023" 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/RMRP" 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:6023" 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/6023" 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=chr9&hgg_gene=ENST00000797550.1&hgg_start=35657750&hgg_end=35658019&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10031" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10031" 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=157660[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=157660[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/RMRP/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/ENSG00000277027" 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.gwascentral.org/search?q=RMRP" 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=RMRP" 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=RMRP&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/PA34404" 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:10031" 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:97937" 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/RMRP#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:97937" 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/6023/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=6023" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:157660" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6023" 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>
|
|
</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> 7720002<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>
|
|
157660
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LONG NONCODING RNA RMRP<br />
|
|
lncRNA RMRP<br />
|
|
RMRPR
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RMRP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RMRP</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/9/170?start=-3&limit=10&highlight=170">9p13.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:35657750-35658019&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'})">9:35,657,750-35,658,019</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=607095,250250,250460" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/170?start=-3&limit=10&highlight=170">
|
|
9p13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Anauxetic dysplasia 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/607095"> 607095 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cartilage-hair hypoplasia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/250250"> 250250 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Metaphyseal dysplasia without hypotrichosis
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/250460"> 250460 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/157660" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/157660" 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>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</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>Mitochondrial RNA-processing endoribonuclease (RNase MRP) cleaves mitochondrial RNA complementary to the light chain of the displacement loop (D loop) at a unique site (<a href="#2" class="mim-tip-reference" title="Chang, D. D., Clayton, D. A. <strong>A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication.</strong> EMBO J. 6: 409-417, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3582365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3582365</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1987.tb04770.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3582365">Chang and Clayton, 1987</a>). The enzyme is a ribonucleoprotein whose RNA component is a nuclear gene product. The RNA component is the first known RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RMRP gene is untranslated, i.e., it encodes an RNA, not a protein (summary by <a href="#8" class="mim-tip-reference" title="Hsieh, C.-L., Donlon, T. A., Darras, B. T., Chang, D. D., Topper, J. N., Clayton, D. A., Francke, U. <strong>The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4.</strong> Genomics 6: 540-544, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2328993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2328993</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90483-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2328993">Hsieh et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3582365+2328993" 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="#25" class="mim-tip-reference" title="Topper, J. N., Clayton, D. A. <strong>Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP.</strong> Nucleic Acids Res. 18: 793-799, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1690392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1690392</a>] [<a href="https://doi.org/10.1093/nar/18.4.793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1690392">Topper and Clayton (1990)</a> cloned human RMRP from a placenta genomic DNA library. The RMRP transcript contains approximately 265 nucleotides but shows some heterogeneity at the 3-prime end. Mouse and human RMRP share approximately 84% identity within the transcribed region, and they are similar as far as 715 bp upstream. Little to no homology exists between them in the downstream region. Northern blot analysis of fractionated mouse and human cells revealed RMRP expression in nucleus and mitochondria. A processed form of human RMRP, representing 108 nucleotides from the 3-prime region, in addition to the 5-prime fragment, was detected in the mitochondrial fraction of human KB cells. A similar cleavage occurred in mouse Rmrp, but was offset by 17 bases compared with the human cleavage site. In both cases, processing occurred at the sequence ANCCCGC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1690392" 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 sequencing normal human liver RNA, <a href="#21" class="mim-tip-reference" title="Rogler, L. E., Kosmyna, B., Moskowitz, D., Bebawee, R., Rahimzadeh, J., Kutchko, K., Laederach, A., Notarangelo, L. D., Giliani, S., Bouhassira, E., Frenette, P., Roy-Chowdhury, J., Rogler, C. E. <strong>Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.</strong> Hum. Molec. Genet. 23: 368-382, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009312[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/ddt427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24009312">Rogler et al. (2014)</a> identified RNAs of about 20 nucleotides originating from the 5-prime end of the RMRP transcript, which they called RMRPS1, and the middle of the RMRP transcript, which they called RMRPS2. RNA sequencing and Northern blot analysis showed that the ratio of RMRPS1 to RMRPS2 transcripts differed among human cells and tissues, and between normal and disease state. These small RNAs represented only a small fraction of total RMRP. In addition to RMRPS1 and RMRPS2 transcripts, Northern blot analysis revealed numerous larger fragments corresponding to the 5-prime and 3-prime ends of RMRP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24009312" 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="biochemicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimBiochemicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimBiochemicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#21" class="mim-tip-reference" title="Rogler, L. E., Kosmyna, B., Moskowitz, D., Bebawee, R., Rahimzadeh, J., Kutchko, K., Laederach, A., Notarangelo, L. D., Giliani, S., Bouhassira, E., Frenette, P., Roy-Chowdhury, J., Rogler, C. E. <strong>Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.</strong> Hum. Molec. Genet. 23: 368-382, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009312[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/ddt427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24009312">Rogler et al. (2014)</a> determined the secondary structure of RMRP in solution. RMRP could adopt at least 2 alternative structures, and the RMRPS1 and RMRPS2 RNAs originated from distinct stem-loop structures. The authors hypothesized that the 2 conformations of RMRP may differentially promote processing of RMRPS1 and RMRPS2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24009312" 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>By study of interspecific somatic cell hybrids and by in situ hybridization, Hsieh et al. (<a href="#9" class="mim-tip-reference" title="Hsieh, C.-L., Donlon, T. A., Darras, B. T., Chang, D., Topper, J. N., Clayton, D. A., Francke, U. <strong>The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1016 only, 1989."None>1989</a>, <a href="#8" class="mim-tip-reference" title="Hsieh, C.-L., Donlon, T. A., Darras, B. T., Chang, D. D., Topper, J. N., Clayton, D. A., Francke, U. <strong>The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4.</strong> Genomics 6: 540-544, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2328993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2328993</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90483-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2328993">1990</a>) located the RMRP gene to 9p21-p12. By interspecific hybrids, the corresponding gene was assigned to mouse chromosome 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2328993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneFunction" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Using inhibitory complementary oligonucleotides, <a href="#25" class="mim-tip-reference" title="Topper, J. N., Clayton, D. A. <strong>Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP.</strong> Nucleic Acids Res. 18: 793-799, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1690392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1690392</a>] [<a href="https://doi.org/10.1093/nar/18.4.793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1690392">Topper and Clayton (1990)</a> showed that both the 5-prime and 3-prime ends of human RMRP were required for endonuclease activity by ribonucleoproteins from mitochondrial and nuclear extracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1690392" 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="Clayton, D. A. <strong>A big development for a small RNA.</strong> Nature 410: 29-31, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242026</a>] [<a href="https://doi.org/10.1038/35065191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242026">Clayton (2001)</a> discussed the probable function of RMRP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To provide a physiologic demonstration of a function for RNase MRP in mammalian cells, <a href="#23" class="mim-tip-reference" title="Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Ruschendorf, F., Sticht, H., Spranger, J., Muller, D., Zweier, C., Schmitt, M. E., Reis, A., Rauch, A. <strong>Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.</strong> Am. J. Hum. Genet. 77: 795-806, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252239</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252239[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/497708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252239">Thiel et al. (2005)</a> performed functional studies in yeast and humans. They showed that different RMRP gene mutations lead to decreased cell growth by impairing ribosomal assembly and by altering cyclin-dependent cell cycle regulation. Clinical heterogeneity was explained by a correlation between the level and type of functional impairment in vitro and the severity of short stature or predisposition to cancer. Whereas the cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>) founder 70A-G mutation (<a href="#0001">157660.0001</a>) affected both pathways intermediately, mutations resulting in anauxetic dysplasia (<a href="/entry/607095">607095</a>) did not affect B-cyclin (<a href="/entry/123836">123836</a>) mRNA levels but did severely incapacitate ribosomal assembly via defective endonucleolytic cleavage. Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252239" 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="Maida, Y., Yasukawa, M., Furuuchi, M., Lassmann, T., Possemato, R., Okamoto, N., Kasim, V., Hayashizaki, Y., Hahn, W. C., Masutomi, K. <strong>An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.</strong> Nature 461: 230-235, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701182</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701182[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19701182">Maida et al. (2009)</a> demonstrated that TERT (<a href="/entry/187270">187270</a>) interacts with RMRP, which is mutated in cartilage-hair hypoplasia. Human TERT and RMRP form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs (dsRNAs) that can be processed into small interfering RNA (siRNA) in a Dicer (<a href="/entry/606241">606241</a>)-dependent manner. <a href="#13" class="mim-tip-reference" title="Maida, Y., Yasukawa, M., Furuuchi, M., Lassmann, T., Possemato, R., Okamoto, N., Kasim, V., Hayashizaki, Y., Hahn, W. C., Masutomi, K. <strong>An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.</strong> Nature 461: 230-235, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701182</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701182[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19701182">Maida et al. (2009)</a> showed that the human TERT-RMRP RNA-dependent RNA polymerase (RdRP) shows a strong preference for RNA templates that can form 3-prime fold-back structures. Using RMRP as a template, the TERT-RMRP RdRP produces dsRNAs that are processed by Dicer into 22-nucleotide dsRNAs that contain 5-prime monophosphate and 3-prime hydroxyl groups that are loaded into AGO2 (<a href="/entry/606229">606229</a>), confirming that these short RNAs represent endogenous siRNAs. The involvement of human TERT in 2 syndromes characterized by stem cell failure (cartilage-hair hypoplasia and dyskeratosis congenita, <a href="/entry/127550">127550</a>) suggested to <a href="#13" class="mim-tip-reference" title="Maida, Y., Yasukawa, M., Furuuchi, M., Lassmann, T., Possemato, R., Okamoto, N., Kasim, V., Hayashizaki, Y., Hahn, W. C., Masutomi, K. <strong>An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.</strong> Nature 461: 230-235, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701182</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701182[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19701182">Maida et al. (2009)</a> that ribonucleoprotein complexes containing TERT have a critical role in stem cell biology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19701182" 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>Using small interfering RNA, <a href="#21" class="mim-tip-reference" title="Rogler, L. E., Kosmyna, B., Moskowitz, D., Bebawee, R., Rahimzadeh, J., Kutchko, K., Laederach, A., Notarangelo, L. D., Giliani, S., Bouhassira, E., Frenette, P., Roy-Chowdhury, J., Rogler, C. E. <strong>Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.</strong> Hum. Molec. Genet. 23: 368-382, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009312[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/ddt427" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24009312">Rogler et al. (2014)</a> found that knockdown of DICER (DICER1; <a href="/entry/606241">606241</a>) reduced RMRPS1 and RMRPS2 transcript levels in HEK293 cells. Using mimic and oligonucleotide inhibitors, they found that RMRPS1 and RMRPS2 transcripts had widespread effects on gene regulation, with both predominantly repressing gene expression. Analysis of gene pathways suggested that RMRPS1 was predominantly involved in regulation of connective tissue and osteoblast development and maturation, whereas RMRPS2 was predominantly involved in skeletal and muscle development, hematologic system development, and cancer. Both appeared to regulate genes important in cellular proliferation and that produce components of the U11/U12 spliceosome (e.g., RNU4ATAC; <a href="/entry/601428">601428</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24009312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Cartilage-Hair Hypoplasia</em></strong></p><p>
|
|
Using a positional cloning strategy and mutation analysis, <a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a> showed that homozygous or compound heterozygous mutations in the RMRP gene (<a href="#0001">157660.0001</a>-<a href="#0008">157660.0008</a>) are responsible for cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), an autosomal recessive disorder characterized by disproportionate short stature, hypoplastic hair, ligamentous laxity, defective immunity, hypoplastic anemia, and neuronal dysplasia of the intestine. The mutations identified in patients with CHH were of 2 distinct types. The first category consisted of insertions or duplications between 6 and 30 nucleotides long residing in the region between the TATA box and the transcription initiation site. These mutations interfered with the transcription of the RMRP gene. The second category consisted of single-nucleotide substitutions and other changes involving at most 2 nucleotides. These resided in highly conserved residues of the transcribed sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" 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="#18" class="mim-tip-reference" title="Ridanpaa, M., Sistonen, P., Rockas, S., Rimoin, D. L., Makitie, O., Kaitila, I. <strong>Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A-G mutation of the untranslated RMRP.</strong> Europ. J. Hum. Genet. 10: 439-447, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12107819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12107819</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200824" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12107819">Ridanpaa et al. (2002)</a> described 36 different mutations in the RMRP gene in 91 Finnish and 44 non-Finnish CHH families. Based on their nature and localization, these mutations could be classified into 3 categories: mutations affecting the promoter region, small changes of conserved nucleotides in the transcript, and insertions and duplications in the 5-prime end of the transcript. The only region of known function that seemed to avoid mutations was the nucleolar localization signal region between nucleotides 23 and 62. Eight different mutations in the promoter region and 28 mutations in the RNA coding region of 267 nucleotides were reported. The most common mutation in CHH patients was the 70A-G transition (<a href="/entry/157600#0001">157600.0001</a>). This mutation represented 92% of the mutations in Finnish CHH patients. Studies of linkage disequilibrium based on maximum likelihood estimates with close markers, genealogic studies, and haplotype data suggested that the mutation was introduced to Finland some 3,900 to 4,800 years ago and before the expansion of the population. The same major mutation accounted for 48% of the mutations among CHH patients from other parts of Europe, North and South America, the Near East, and Australia. In the non-Finnish CHH families, the 70A-G mutation segregated with the same major haplotype, although shorter, as in most of the Finnish families. In 23 of these 27 chromosomes, the common region extended over 60 kb; therefore, all the chromosomes most likely arose from a solitary event many thousands of years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12107819" 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>Among the sporadic cases of CHH in which <a href="#18" class="mim-tip-reference" title="Ridanpaa, M., Sistonen, P., Rockas, S., Rimoin, D. L., Makitie, O., Kaitila, I. <strong>Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A-G mutation of the untranslated RMRP.</strong> Europ. J. Hum. Genet. 10: 439-447, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12107819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12107819</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200824" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12107819">Ridanpaa et al. (2002)</a> identified mutations in the RMRP gene were 1 from China, 2 from Israel, and 1 from Turkey. Families with more than 1 affected member affected by CHH and found to have RMRP mutations were from Saudi Arabia and Poland. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12107819" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>RMRP mutations in Japanese patients with cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 123A: 253-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608646</a>] [<a href="https://doi.org/10.1002/ajmg.a.20281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608646">Nakashima et al. (2003)</a> identified novel mutations in the RMRP gene in Japanese patients, but did not find the 70A-G common founder mutation in any of the 12 patients studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608646" 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="Kuijpers, T. W., Ridanpaa, M., Peters, M., de Boer, I., Vossen, J. M. J. J., Pals, S. T., Kaitila, I., Hennekam, R. C. M. <strong>Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR (sic) gene.</strong> J. Med. Genet. 40: 761-766, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569125</a>] [<a href="https://doi.org/10.1136/jmg.40.10.761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14569125">Kuijpers et al. (2003)</a> described a female patient in whom the diagnosis of kyphomelic dysplasia (<a href="/entry/211350">211350</a>) was made in infancy because of her short-limb dwarfism and kyphomelia, especially of the femurs. She developed a combined aplastic anemia and immunodeficiency by the age of 2 years. These responded well to allogeneic bone marrow transplantation from her HLA-identical brother at the age of 3 years. Growth remained extremely retarded, however. Clinical and radiologic features reported up to the age of 8 years gradually changed and became more typical for CHH, as was confirmed by the finding of compound heterozygosity for 2 novel mutations in the RMRP gene: 195insT (<a href="#0016">157660.0016</a>) and 63C-T (<a href="#0017">157660.0017</a>). The 63C-T mutation was said to have previously been found in an Australian CHH patient. Both mutations resided in evolutionarily conserved nucleotides and were not found in healthy controls. Molecular studies in the parents showed the father to have the 195insT and the mother to have the 63C-T mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569125" 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="Hermanns, P., Bertuch, A. A., Bertin, T. K., Dawson, B., Schmitt, M. E., Shaw, C., Zabel, B., Lee, B. <strong>Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.</strong> Hum. Molec. Genet. 14: 3723-3740, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16254002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16254002</a>] [<a href="https://doi.org/10.1093/hmg/ddi403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16254002">Hermanns et al. (2005)</a> studied the effects of mutations in both the promoter and the transcribed region of RMRP. While mutations in the promoter abolished transcription in vitro, RMRP RNA levels in patients with transcribed mutations were also decreased, suggesting an unstable RNA. RMRP mutations introduced into the yeast ortholog nuclear mitochondrial endonuclease-1 (Nme1) exhibited normal mitochondrial function, chromosomal segregation, and cell cycle progression, while a CHH fibroblast cell line exhibited normal mitochondrial content. However, the most commonly found mutation in CHH patients, 70A-G (<a href="#0001">157660.0001</a>), caused an alteration in ribosomal processing by altering the ratio of the short versus the long form of the 5.8S rRNA in yeast. Transcriptional profiling of CHH patient RNAs showed upregulation of several cytokines and cell cycle regulatory genes, 1 of which has been implicated in chondrocyte hypertrophy. <a href="#4" class="mim-tip-reference" title="Hermanns, P., Bertuch, A. A., Bertin, T. K., Dawson, B., Schmitt, M. E., Shaw, C., Zabel, B., Lee, B. <strong>Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.</strong> Hum. Molec. Genet. 14: 3723-3740, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16254002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16254002</a>] [<a href="https://doi.org/10.1093/hmg/ddi403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16254002">Hermanns et al. (2005)</a> suggested that alteration of ribosomal processing in CHH may be associated with altered cytokine signaling and cell cycle progression in terminally differentiating cells in the lymphocytic and chondrocytic cell lineages. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16254002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Hirose, Y., Nakashima, E., Ohashi, H., Mochizuki, H., Bando, Y., Ogata, T., Adachi, M., Toba, E., Nishimura, G., Ikegawa, S. <strong>Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.</strong> J. Hum. Genet. 51: 706-710, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832578</a>] [<a href="https://doi.org/10.1007/s10038-006-0015-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16832578">Hirose et al. (2006)</a> screened 9 Japanese patients for mutations in the RMRP gene and identified homozygous or compound heterozygous mutations in 6 patients. The authors noted that the 70A-G founder mutation prevalent in Western populations had not been found in Japanese patients, whereas 2 mutations common in Japanese patients, 218A-G (<a href="#0013">157660.0013</a>) and a 17-bp duplication at nucleotide 3 (<a href="#0014">157660.0014</a>), had not been reported in other populations. Haplotype analysis revealed that the 2 latter mutations were contained within rare distinct haplotypes, indicating the presence of unique founders among Japanese CHH patients. <a href="#6" class="mim-tip-reference" title="Hirose, Y., Nakashima, E., Ohashi, H., Mochizuki, H., Bando, Y., Ogata, T., Adachi, M., Toba, E., Nishimura, G., Ikegawa, S. <strong>Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.</strong> J. Hum. Genet. 51: 706-710, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832578</a>] [<a href="https://doi.org/10.1007/s10038-006-0015-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16832578">Hirose et al. (2006)</a> observed that none of the Japanese patients they evaluated exhibited all of the skeletal, hair, and immunologic features characteristic of classic CHH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16832578" 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 27 CHH patients referred for molecular evaluation of the clinical diagnosis, <a href="#5" class="mim-tip-reference" title="Hermanns, P., Tran, A., Munivez, E., Carter, S., Zabel, B., Lee, B., Leroy, J. G. <strong>RMRP mutations in cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 140A: 2121-2130, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16838329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16838329</a>] [<a href="https://doi.org/10.1002/ajmg.a.31331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16838329">Hermanns et al. (2006)</a> found RMRP mutations in 22. The phenotype in 1 of the 5 mutation-negative patients was fully congruent with the adopted case definition of CHH. In a second of these patients, the diagnosis of Schmid type metaphyseal chondrodysplasia (<a href="/entry/156500">156500</a>) was made and confirmed by the detection of a mutation in the COL10A1 gene. The remaining patients most likely represented one or more metaphyseal chondrodysplasias not hitherto delineated. The pattern of cumulative growth in infancy and early childhood in the latter 4 patients was the single feature with greatest negative predictive power for CHH. Fourteen of the mutations reported by <a href="#5" class="mim-tip-reference" title="Hermanns, P., Tran, A., Munivez, E., Carter, S., Zabel, B., Lee, B., Leroy, J. G. <strong>RMRP mutations in cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 140A: 2121-2130, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16838329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16838329</a>] [<a href="https://doi.org/10.1002/ajmg.a.31331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16838329">Hermanns et al. (2006)</a> had not been reported previously. Only 4 of 22 CHH patients were homozygous for the 70A-G mutation. <a href="#18" class="mim-tip-reference" title="Ridanpaa, M., Sistonen, P., Rockas, S., Rimoin, D. L., Makitie, O., Kaitila, I. <strong>Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A-G mutation of the untranslated RMRP.</strong> Europ. J. Hum. Genet. 10: 439-447, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12107819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12107819</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200824" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12107819">Ridanpaa et al. (2002)</a> postulated that the 70A-G mutation was of ancient founder origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12107819+16838329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Nakashima, E., Tran, J. R., Welting, T. J. M., Pruijn, G. J. M., Hirose, Y., Nishimura, G., Ohashi, H., Schurman, S. H., Cheng, J., Candotti, F., Nagaraja, R., Ikegawa, S., Schlessinger, D. <strong>Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.</strong> Am. J. Med. Genet. 143A: 2675-2681, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17937437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17937437</a>] [<a href="https://doi.org/10.1002/ajmg.a.32053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17937437">Nakashima et al. (2007)</a> performed RT-PCR analysis of cDNA from CHH patients carrying RMRP mutations, including 2 promoter mutations, a 16-bp duplication at +1 and a 17-bp duplication at +3 (<a href="#0014">157660.0014</a>), and 2 transcribed mutations, 168G-A and 218A-G (<a href="#0013">157660.0013</a>), and confirmed lower expression levels of RMRP for all mutations. By 5-prime RACE analysis, they showed that reduced transcription in the promoter mutants was accompanied by shifting of the transcription initiation sites to nucleotides 5-prime upstream of the authentic site. By RT-PCR analysis of mouse fibroblasts transfected with transcribed mutant RMRP, they confirmed reduced RMRP expression. Reduced transcription correlated with greater instability of mutant RMRP transcripts compared to controls. A comparable reduction of transcription was seen when the major CHH mutation 70A-G was introduced into mouse ES cells, and low expression level of the 70A-G Rmrp RNA was confirmed by expression assays in cultured cells, and again correlated with RNA instability. <a href="#16" class="mim-tip-reference" title="Nakashima, E., Tran, J. R., Welting, T. J. M., Pruijn, G. J. M., Hirose, Y., Nishimura, G., Ohashi, H., Schurman, S. H., Cheng, J., Candotti, F., Nagaraja, R., Ikegawa, S., Schlessinger, D. <strong>Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.</strong> Am. J. Med. Genet. 143A: 2675-2681, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17937437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17937437</a>] [<a href="https://doi.org/10.1002/ajmg.a.32053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17937437">Nakashima et al. (2007)</a> concluded that loss of mutant RNA transcripts is a critical feature of pathogenesis of CHH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17937437" 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 Finnish girl with CHH who had normal height in childhood, <a href="#11" class="mim-tip-reference" title="Klemetti, P., Valta, H., Kostjukovits, S., Taskinen, M., Toiviainen-Salo, S., Makitie, O. <strong>Cartilage-hair hypoplasia with normal height in childhood--4 patients with a unique genotype.</strong> Clin. Genet. 92: 204-207, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28094436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28094436</a>] [<a href="https://doi.org/10.1111/cge.12969" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28094436">Klemetti et al. (2017)</a> identified compound heterozygosity for mutations in the RMRP gene: the 70A-G mutation and a 10-bp duplication (<a href="#0003">157660.0003</a>). Her parents were each heterozygous for one of the mutations. <a href="#11" class="mim-tip-reference" title="Klemetti, P., Valta, H., Kostjukovits, S., Taskinen, M., Toiviainen-Salo, S., Makitie, O. <strong>Cartilage-hair hypoplasia with normal height in childhood--4 patients with a unique genotype.</strong> Clin. Genet. 92: 204-207, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28094436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28094436</a>] [<a href="https://doi.org/10.1111/cge.12969" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28094436">Klemetti et al. (2017)</a> identified 3 additional Finnish patients with this genotype, 2 of whom had unusually mild growth failure. Despite their mild growth retardation, the patients had evidence of significant immunodeficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28094436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Metaphyseal Dysplasia without Hypotrichosis</em></strong></p><p>
|
|
<a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a> identified compound heterozygous mutations in the RMRP gene (<a href="#0001">157660.0001</a>; <a href="#0009">157660.0009</a>-<a href="#0011">157660.0011</a>) in 2 unrelated patients with metaphyseal dysplasia without hypotrichosis (MDWH; <a href="/entry/250460">250460</a>) and concluded that the disorder is a variant of CHH, manifesting only as short stature and metaphyseal dysplasia. Sequencing 120 RMRP alleles from a control group, <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a> found an unusually high density of single-nucleotide polymorphisms (SNPs) in and around the RMRP gene. The biologic significance of this finding was unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" 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="Ridanpaa, M., Ward, L. M., Rockas, S., Sarkioja, M., Makela, H., Susic, M., Glorieux, F. H., Cole, W. G., Makitie, O. <strong>Genetic changes in the RNA components of RNase MRP and RNase in Schmid metaphyseal chondrodysplasia.</strong> J. Med. Genet. 40: 741-746, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569119</a>] [<a href="https://doi.org/10.1136/jmg.40.10.741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14569119">Ridanpaa et al. (2003)</a> studied the RMRP gene and the H1RNA gene (<a href="/entry/608513">608513</a>) in 20 patients with the diagnosis of Schmid-type metaphyseal chondrodysplasia (<a href="/entry/156500">156500</a>) in whom no mutations were detectable in the COL10A1 gene (<a href="/entry/120110">120110</a>). Two patients were found to be homozygous for a 70A-G transition in the RMRP gene, which is the major mutation causing CHH. The description suggests the metaphyseal dysplasia without hypotrichosis described by <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11940090+14569119" 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>Among 10 Finnish patients with MDWH, <a href="#26" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[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/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al. (2020)</a> found that 7 were homozygous for the 71A-G founder mutation (<a href="#0001">157660.0001</a>) and 3 were compound heterozygous for the founder mutation with 263G-T (<a href="#0002">157660.0002</a>). No evidence of genotype-phenotype correlation was seen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" 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 Finnish patient with MDWH, <a href="#26" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[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/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al. (2020)</a> identified compound heterozygosity for variants in the RMRP gene, 155G-T (<a href="#0023">157660.0023</a>) and -5delins21 (<a href="#0024">157660.0024</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Anauxetic Dysplasia</em></strong></p><p>
|
|
<a href="#23" class="mim-tip-reference" title="Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Ruschendorf, F., Sticht, H., Spranger, J., Muller, D., Zweier, C., Schmitt, M. E., Reis, A., Rauch, A. <strong>Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.</strong> Am. J. Hum. Genet. 77: 795-806, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252239</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252239[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/497708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252239">Thiel et al. (2005)</a> performed positional cloning at the locus for anauxetic dysplasia (ANXD; <a href="/entry/607095">607095</a>), a rare autosomal recessive spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Homozygosity mapping led to the identification of novel mutations in the RMRP gene (<a href="#0018">157660.0018</a>-<a href="#0021">157660.0021</a>), indicating that the disorder is allelic to cartilage-hair hypoplasia (<a href="/entry/250250">250250</a>) as well as to metaphyseal dysplasia without hypotrichosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
|
|
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#24" class="mim-tip-reference" title="Thiel, C. T., Mortier, G., Kaitila, I., Reis, A., Rauch, A. <strong>Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.</strong> Am. J. Hum. Genet. 81: 519-529, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701897">Thiel et al. (2007)</a> stated that in addition to the founder mutation 70A-G, which is present in 92% of Finnish and 48% of non-Finnish patients with CHH, a total of 25 insertions or duplications between the TATA box and the transcription start site and more than 62 other mutations within the RMRP gene had been identified in patients with phenotypes in the cartilage hair hypoplasia-anauxetic dysplasia (CHH-ANXD) spectrum. That spectrum, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis (MDWH; <a href="/entry/250460">250460</a>) and CHH to the severe anauxetic dysplasia, includes different degrees of short stature, hair hypoplasia, defective erythrogenesis, and immunodeficiency. To investigate the genotype-phenotype correlation, <a href="#24" class="mim-tip-reference" title="Thiel, C. T., Mortier, G., Kaitila, I., Reis, A., Rauch, A. <strong>Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.</strong> Am. J. Hum. Genet. 81: 519-529, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701897">Thiel et al. (2007)</a> analyzed the position and the functional effect of 13 mutations in patients with variable features of the CHH-ANXD spectrum. Those at the severe end of the spectrum included a patient with anauxetic dysplasia who was compound heterozygous for a null deletion mutation (<a href="#0022">157660.0022</a>) and the 195C-T mutation (see <a href="#0009">157660.0009</a>), which had been described in patients with milder phenotypes. Mapping of nucleotide conservation to the 2-dimensional structure of the RMRP transcript showed that disease-causing mutations either affect evolutionarily conserved nucleotides or are likely to alter secondary structure through mispairing in stem regions. In vitro testing of mitochondrial RNA-processing ribonuclease multiprotein-specific mRNA and rRNA cleavage of different mutations showed a strong correlation between the decrease in rRNA cleavage in ribosomal assembly and the degree of bone dysplasia, whereas reduced mRNA cleavage, and thus cell cycle impairment, predicted the presence of hair hypoplasia, immunodeficiency, and hematologic abnormalities and thus increased cancer risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="history" class="mim-anchor"></a>
|
|
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>The article by <a href="#10" class="mim-tip-reference" title="Huang, W., Thomas, B., Flynn, R. A., Gavzy, S. J., Wu, L., Kim, S. V., Hall, J. A., Miraldi, E. R., Ng, C. P., Rigo, F., Meadows, S., Montoya, N. R., and 9 others. <strong>DDX5 and its associated lncRNA Rmrp modulate T(H)17 cell effector functions.</strong> Nature 528: 517-522, 2015. Note: Erratum: Nature 533: 130 only, 2016. Retraction: Nature 562: 150 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26675721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26675721</a>] [<a href="https://doi.org/10.1038/nature16193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26675721">Huang et al. (2015)</a> identifying Ddx5 as an Ror-gamma-t (see <a href="/entry/602943">602943</a>)-interacting protein in mouse T-helper-17 (Th17) cells (see IL17A, <a href="/entry/603149">603149</a>) and concluding that gly270 in Rmrp was critical for Ddx5-Ror-gamma-t complex assembly and for recruitment of Rmrp to Ror-gamma-t loci to coordinate the Th17 effector program was retracted because key aspects of the original results could not be replicated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26675721" 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>24 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/157660" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=157660[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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 70A-G
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs199476103 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs199476103;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs199476103?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs199476103" 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=rs199476103" 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=RCV000015275 OR RCV000015276 OR RCV000313899 OR RCV000555900 OR RCV000763613 OR RCV003944823" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015275, RCV000015276, RCV000313899, RCV000555900, RCV000763613, RCV003944823" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015275...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Cartilage-Hair Hypoplasia</em></strong></p><p>
|
|
<a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a> identified homozygosity for an A-to-G transition at nucleotide 70 (70A-G) of the RMRP gene in 42 Finnish families with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), including 12 with more than 1 affected child and 30 with a single affected child. All of these families carried modifications of the ancestral haplotype of DNA polymorphisms. In additional CHH patients, the authors identified the 70A-G mutation in compound heterozygosity with another RMRP mutation (e.g., <a href="#0002">157660.0002</a>). Another patient, who had been described as patient A by <a href="#22" class="mim-tip-reference" title="Sulisalo, T., Makitie, O., Sistonen, P., Ridanpaa, M., El-Rifai, W., Ruuskanen, O., de la Chapelle, A., Kaitila, I. <strong>Uniparental disomy in cartilage-hair hypoplasia.</strong> Europ. J. Hum. Genet. 5: 35-42, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9156319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9156319</a>]" pmid="9156319">Sulisalo et al. (1997)</a>, had uniparental disomy for chromosome 9 with 2 copies of the maternal, 70A-G mutation-carrying chromosome, and no paternal chromosome 9. The 70A-G mutation was detected in heterozygosity in 1 of 120 Finnish control samples and in 2 of 160 non-Finnish control samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11207361+9156319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Ridanpaa, M., Jain, P., McKusick, V. A., Francomano, C. A., Kaitila, I. <strong>The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.</strong> Am. J. Med. Genet. 121C: 81-83, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12888988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12888988</a>] [<a href="https://doi.org/10.1002/ajmg.c.20006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12888988">Ridanpaa et al. (2003)</a> reported that the most frequent, and perhaps only, mutation causing CHH in the Old Order Amish in the United States (in whom the disorder was first described) is the same 70A-G transition that is the major mutation causing CHH in Finns. They stated that although more than 40 different mutations in the RMRP gene had been characterized in other populations, 70A-G was the most common CHH-causing mutation worldwide. The mutation segregates with the same major haplotype in Finns and Amish and others, suggesting that it is very ancient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888988" 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="Ridanpaa, M., Ward, L. M., Rockas, S., Sarkioja, M., Makela, H., Susic, M., Glorieux, F. H., Cole, W. G., Makitie, O. <strong>Genetic changes in the RNA components of RNase MRP and RNase in Schmid metaphyseal chondrodysplasia.</strong> J. Med. Genet. 40: 741-746, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569119</a>] [<a href="https://doi.org/10.1136/jmg.40.10.741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14569119">Ridanpaa et al. (2003)</a> found homozygosity for the common Finnish mutation in 2 of 20 Canadian patients diagnosed with Schmid-type metaphyseal chondrodysplasia (<a href="/entry/156500">156500</a>) without the usual autosomal dominant mutation in COL10A1 (<a href="/entry/120110">120110</a>). The patients later developed features more typical of CHH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Hermanns, P., Tran, A., Munivez, E., Carter, S., Zabel, B., Lee, B., Leroy, J. G. <strong>RMRP mutations in cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 140A: 2121-2130, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16838329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16838329</a>] [<a href="https://doi.org/10.1002/ajmg.a.31331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16838329">Hermanns et al. (2006)</a> found the 70A-G mutation in patient number 1 of <a href="#27" class="mim-tip-reference" title="Williams, M. S., Ettinger, R. S., Hermanns, P., Lee, B., Carlsson, G., Taskinen, M., Makitie, O. <strong>The natural history of severe anemia in cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 138A: 35-40, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16097009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16097009</a>] [<a href="https://doi.org/10.1002/ajmg.a.30902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16097009">Williams et al. (2005)</a> with CHH complicated by severe macrocytic anemia. Repeated transfusions with irradiated packed red blood cells were required. The patient remained transfusion-dependent but showed no signs of compromised immunity. The usually mild anemia of CHH is most probably self-limited. However, over half of CHH patients with severe anemia may require life-long transfusions and bone marrow transplantation (<a href="#27" class="mim-tip-reference" title="Williams, M. S., Ettinger, R. S., Hermanns, P., Lee, B., Carlsson, G., Taskinen, M., Makitie, O. <strong>The natural history of severe anemia in cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 138A: 35-40, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16097009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16097009</a>] [<a href="https://doi.org/10.1002/ajmg.a.30902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16097009">Williams et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16097009+16838329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The so-called Finnish-Amish common transition 70A-G was observed in 12 alleles among 22 confirmed CHH patients (27%) by <a href="#5" class="mim-tip-reference" title="Hermanns, P., Tran, A., Munivez, E., Carter, S., Zabel, B., Lee, B., Leroy, J. G. <strong>RMRP mutations in cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 140A: 2121-2130, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16838329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16838329</a>] [<a href="https://doi.org/10.1002/ajmg.a.31331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16838329">Hermanns et al. (2006)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16838329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Klemetti, P., Valta, H., Kostjukovits, S., Taskinen, M., Toiviainen-Salo, S., Makitie, O. <strong>Cartilage-hair hypoplasia with normal height in childhood--4 patients with a unique genotype.</strong> Clin. Genet. 92: 204-207, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28094436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28094436</a>] [<a href="https://doi.org/10.1111/cge.12969" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28094436">Klemetti et al. (2017)</a> identified 4 Finnish patients with CHH who were compound heterozygous for the 70A-G mutation and a 10-bp duplication at posistion -13 (TACTCTGTGA) (<a href="#0003">157660.0003</a>) in the RMRP gene. Three of the 4 had unusually mild growth failure, but evidence of significant immunodeficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28094436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Metaphyseal Dysplasia without Hypotrichosis</em></strong></p><p>
|
|
In an Austrian boy with metaphyseal chondrodysplasia without hypotrichosis (MDWH; <a href="/entry/250460">250460</a>), <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a> identified compound heterozygosity for mutations in the RMRP gene: the common Finnish 70A-G mutation and a 238C-T transition (<a href="#0009">157660.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 262G-T
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs727502774 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502774;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs727502774?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs727502774" 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=rs727502774" 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=RCV000015277 OR RCV001207690 OR RCV002496369" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015277, RCV001207690, RCV002496369" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015277...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 Finnish families with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), including 1 family with 2 affected children, <a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a> identified a G-to-T transversion at nucleotide 262 (262G-T) of the RMRP gene in compound heterozygosity with the 70A-G mutation (<a href="#0001">157660.0001</a>). The chromosomes carrying the 262G-T mutation shared a haplotype that differed from that of the main ancestral one. The 262G-T mutation was not detected in any of 120 Finnish and 160 non-Finnish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 10-BP DUP, NT-13
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554651507 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554651507;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=rs1554651507" 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=rs1554651507" 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=RCV000015278 OR RCV000799677 OR RCV002490373" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015278, RCV000799677, RCV002490373" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015278...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a> identified a 10-bp duplication (TACTCTGTGA) at position -13 of the RMRP gene in compound heterozygosity with the 70A-G mutation (<a href="#0001">157660.0001</a>) in 2 Finnish families with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>). The chromosomes carrying this mutation shared a haplotype that differed from the ancestral one. This and all other duplication-insertions found in the RMRP gene were not detected in 120 Finnish and 160 non-Finnish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Klemetti, P., Valta, H., Kostjukovits, S., Taskinen, M., Toiviainen-Salo, S., Makitie, O. <strong>Cartilage-hair hypoplasia with normal height in childhood--4 patients with a unique genotype.</strong> Clin. Genet. 92: 204-207, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28094436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28094436</a>] [<a href="https://doi.org/10.1111/cge.12969" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28094436">Klemetti et al. (2017)</a> identified 4 Finnish patients with CHH who were compound heterozygous for the 10-bp duplication at position -13 and the 70A-G mutation in the RMRP gene. Three of the 4 had unusually mild growth failure but evidence of significant immunodeficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28094436" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 15-BP DUP, NT-10
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs727502776 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502776;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs727502776?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs727502776" 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=rs727502776" 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=RCV000015279 OR RCV000694726 OR RCV002223757 OR RCV002496370" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015279, RCV000694726, RCV002223757, RCV002496370" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015279...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Swiss patient with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), <a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a> identified a 15-bp duplication (ACTACTCTGTGAAGC) that occurred twice at position -10 of the RMRP gene in compound heterozygosity with a 2-bp duplication at nucleotide 98 (<a href="#0005">157660.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 2-BP DUP, 98TG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1340624774 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1340624774;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1340624774?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1340624774" 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=rs1340624774" 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=RCV000015280 OR RCV000529672 OR RCV002263773" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015280, RCV000529672, RCV002263773" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015280...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a> identified a 2-bp duplication (TG) at nucleotide 98 of the RMRP gene in compound heterozygosity with a 15-bp duplication at position -10 (<a href="#0004">157660.0004</a>) in a Swiss patient with cartilage-hair hypoplasia (<a href="/entry/250250">250250</a>) and with the 70A-G mutation (<a href="#0001">157660.0001</a>) in a Canadian patient with CHH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 6-BP INS, NT-6
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554651446 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554651446;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=rs1554651446" 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=rs1554651446" 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=RCV000015281" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015281" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015281</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a> identified a 6-bp insertion (CCTGAG) at position -6 of the RMRP gene in compound heterozygosity with the 70A-G mutation (<a href="#0001">157660.0001</a>) in a German patient with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 18-BP DUP, NT-3
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs727502778 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502778;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs727502778?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs727502778" 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=rs727502778" 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=RCV000015282 OR RCV001248044 OR RCV002482870 OR RCV003156213" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015282, RCV001248044, RCV002482870, RCV003156213" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015282...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), <a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a> identified an 18-bp duplication (TCTGTGAAGCTGAGGAC) at position -3 of the RMRP gene in compound heterozygosity with a G-to-A transition at nucleotide 193 (193G-A; <a href="#0008">157660.0008</a>). The 193G-A mutation was not found in 112 Finnish and 93 non-Finnish controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 193G-A
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs761398394 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs761398394;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs761398394?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs761398394" 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=rs761398394" 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=RCV001193444 OR RCV002491588 OR RCV002559222" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001193444, RCV002491588, RCV002559222" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001193444...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 193G-A transition in the RMRP gene that was found in a patient with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>) by <a href="#19" class="mim-tip-reference" title="Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A. <strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong> Cell 104: 195-203, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00205-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207361">Ridanpaa et al. (2001)</a>, see <a href="#0007">157660.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" 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 DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 238C-T
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs749667892 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs749667892;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs749667892?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs749667892" 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=rs749667892" 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=RCV000015284 OR RCV000699988 OR RCV001797786" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015284, RCV000699988, RCV001797786" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015284...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Austrian boy with short stature and metaphyseal dysplasia similar to CHH, but lacking hair anomalies, immunodeficiency, and other extraskeletal features (MDWH; <a href="/entry/250460">250460</a>), <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a> identified compound heterozygous mutations in the RMRP gene: the common Finnish 70A-G mutation (<a href="#0001">157660.0001</a>) and a 238C-T transition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" 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 DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 195C-T
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs948931144 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs948931144;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs948931144?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs948931144" 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=rs948931144" 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=RCV000015285 OR RCV000781815 OR RCV000814860 OR RCV002223939" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015285, RCV000781815, RCV000814860, RCV002223939" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015285...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy of Swiss-Danish extraction with short stature and metaphyseal dysplasia similar to CHH, but lacking hair anomalies, immunodeficiency, and other extraskeletal features (MDWH; <a href="/entry/250460">250460</a>), <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a> identified compound heterozygous mutations in the RMRP gene: a 195C-T transition and a 12-bp duplication (AAGCTGAGGACG) located 2 nucleotides before the transcription initiation site (<a href="#0011">157660.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" 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 DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 12-BP DUP, NT-2
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554651400 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554651400;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=rs1554651400" 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=rs1554651400" 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=RCV000015286" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015286" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015286</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 12-bp duplication in the RMRP gene that was found in compound heterozygous state in patients with metaphyseal dysplasia without hypotrichosis (MDWH; <a href="/entry/250460">250460</a>) by <a href="#1" class="mim-tip-reference" title="Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A. <strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong> Clin. Genet. 61: 146-151, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940090">Bonafe et al. (2002)</a>, see <a href="#0010">157660.0010</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" 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 DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 17-BP INS, NT-20
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554651469 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554651469;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=rs1554651469" 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=rs1554651469" 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=RCV000015287 OR RCV000666776 OR RCV001851869" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015287, RCV000666776, RCV001851869" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015287...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#15" class="mim-tip-reference" title="Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>RMRP mutations in Japanese patients with cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 123A: 253-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608646</a>] [<a href="https://doi.org/10.1002/ajmg.a.20281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608646">Nakashima et al. (2003)</a> described a 7-year-old Japanese girl who had skeletal changes consistent with cartilage-hair hypoplasia but who showed neither hypoplastic hair nor immunodeficiency (MDWH; <a href="/entry/250460">250460</a>). Radiography showed brachydactyly with cone-shaped epiphyses in the phalanges of the hands and metaphyseal dysplasia in the long and short tubular bones, especially in the distal femur. Mutation analysis showed compound heterozygosity for mutations in the RMRP gene: a 17-bp insertion (TCTGTGAAGCTGGGGAC) at -20 and a 218A-G transition (<a href="#0013">157660.0013</a>). The insertion was found on the paternal allele and the nucleotide substitution on the maternal allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608646" 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 DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 218A-G
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs936059863 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs936059863;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs936059863?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs936059863" 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=rs936059863" 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=RCV000015288 OR RCV000703896 OR RCV000781820 OR RCV002493235" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015288, RCV000703896, RCV000781820, RCV002493235" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015288...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 218A-G transition in the RMRP gene that was found in compound heterozygous state in a patient with metaphyseal dysplasia without hypotrichosis (MDWH; <a href="/entry/250460">250460</a>) by <a href="#15" class="mim-tip-reference" title="Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>RMRP mutations in Japanese patients with cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 123A: 253-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608646</a>] [<a href="https://doi.org/10.1002/ajmg.a.20281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608646">Nakashima et al. (2003)</a>, see <a href="#0012">157660.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608646" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 17-BP DUP, NT3
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs878853178 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs878853178;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=rs878853178" 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=rs878853178" 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=RCV000015289 OR RCV001384494" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015289, RCV001384494" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015289...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>), <a href="#15" class="mim-tip-reference" title="Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>RMRP mutations in Japanese patients with cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 123A: 253-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608646</a>] [<a href="https://doi.org/10.1002/ajmg.a.20281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608646">Nakashima et al. (2003)</a> identified compound heterozygosity for 2 mutations in the RMRP gene: a 17-bp duplication (GAAGCTGAGGACGTGGT) at +3 inherited from the mother and a de novo 182G-A mutation (<a href="#0015">157660.0015</a>). Parenthood was confirmed by testing for polymorphic markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608646" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 182G-A
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1554651153 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1554651153;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=rs1554651153" 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=rs1554651153" 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=RCV000668988 OR RCV003488792" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000668988, RCV003488792" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000668988...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the de novo 182G-A mutation in the RMRP gene that was found in compound heterozygous state in a patient with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>) by <a href="#15" class="mim-tip-reference" title="Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>RMRP mutations in Japanese patients with cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 123A: 253-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608646</a>] [<a href="https://doi.org/10.1002/ajmg.a.20281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608646">Nakashima et al. (2003)</a>, see <a href="#0014">157660.0014</a>. <a href="#15" class="mim-tip-reference" title="Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S. <strong>RMRP mutations in Japanese patients with cartilage-hair hypoplasia.</strong> Am. J. Med. Genet. 123A: 253-256, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608646</a>] [<a href="https://doi.org/10.1002/ajmg.a.20281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14608646">Nakashima et al. (2003)</a> stated that the 182G-A mutation was the first de novo mutation in the RMRP gene to be reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608646" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 1-BP INS, 195T
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs796065036 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs796065036;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=rs796065036" 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=rs796065036" 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=RCV000015291 OR RCV000548629" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015291, RCV000548629" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015291...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#12" class="mim-tip-reference" title="Kuijpers, T. W., Ridanpaa, M., Peters, M., de Boer, I., Vossen, J. M. J. J., Pals, S. T., Kaitila, I., Hennekam, R. C. M. <strong>Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR (sic) gene.</strong> J. Med. Genet. 40: 761-766, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569125</a>] [<a href="https://doi.org/10.1136/jmg.40.10.761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14569125">Kuijpers et al. (2003)</a> described a girl who in the first 2 years of life was thought to have kyphomelic dysplasia (<a href="/entry/211350">211350</a>) because of her short-limb dwarfism and bowed extremities affecting especially the femurs. At the age of 2 years she developed a combined immunodeficiency and aplastic anemia that responded well to allogeneic bone marrow transplantation, although growth remained extremely retarded. Over 8 years of observation, clinical and radiologic symptoms gradually changed and became more typical for CHH (<a href="/entry/250250">250250</a>). Compound heterozygosity for 2 novel mutations in the RMRP gene were found: 195insT and 63C-T (<a href="#0013">157660.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569125" 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 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 63C-T
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs786204684 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786204684;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs786204684?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs786204684" 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=rs786204684" 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=RCV000169492 OR RCV000763614 OR RCV000794299 OR RCV001725132" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000169492, RCV000763614, RCV000794299, RCV001725132" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000169492...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 63C-T transition in the RMRP gene that was found in compound heterozygous state in a patient with cartilage-hair hypoplasia (CHH; <a href="/entry/250250">250250</a>) by <a href="#12" class="mim-tip-reference" title="Kuijpers, T. W., Ridanpaa, M., Peters, M., de Boer, I., Vossen, J. M. J. J., Pals, S. T., Kaitila, I., Hennekam, R. C. M. <strong>Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR (sic) gene.</strong> J. Med. Genet. 40: 761-766, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569125</a>] [<a href="https://doi.org/10.1136/jmg.40.10.761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14569125">Kuijpers et al. (2003)</a>, see <a href="#0016">157660.0016</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569125" 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 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 14-BP INS, NT111
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1823615821 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1823615821;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=rs1823615821" 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=rs1823615821" 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=RCV000015293" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015293" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015293</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members of a Jordanian family with anauxetic dysplasia (ANXD1; <a href="/entry/607095">607095</a>) reported by <a href="#14" class="mim-tip-reference" title="Menger, H., Mundlos, S., Becker, K., Spranger, J., Zabel, B. <strong>An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.</strong> Am. J. Med. Genet. 63: 80-83, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723091</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723091">Menger et al. (1996)</a>, <a href="#23" class="mim-tip-reference" title="Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Ruschendorf, F., Sticht, H., Spranger, J., Muller, D., Zweier, C., Schmitt, M. E., Reis, A., Rauch, A. <strong>Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.</strong> Am. J. Hum. Genet. 77: 795-806, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252239</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252239[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/497708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252239">Thiel et al. (2005)</a> found homozygosity for an insertion of 14 nucleotides between nucleotides 111 and 112 of the RMRP cDNA. The parents were consanguineous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8723091+16252239" 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 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 14G-A
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs902313238 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs902313238;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs902313238?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs902313238" 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=rs902313238" 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=RCV000015294 OR RCV002514102" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015294, RCV002514102" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015294...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the German family with anauxetic dysplasia (ANXD1; <a href="/entry/607095">607095</a>) reported by <a href="#7" class="mim-tip-reference" title="Horn, D., Rupprecht, E., Kunze, J., Spranger, J. <strong>Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. (Letter)</strong> J. Med. Genet. 38: 262-265, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11370632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11370632</a>] [<a href="https://doi.org/10.1136/jmg.38.4.262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11370632">Horn et al. (2001)</a>, <a href="#23" class="mim-tip-reference" title="Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Ruschendorf, F., Sticht, H., Spranger, J., Muller, D., Zweier, C., Schmitt, M. E., Reis, A., Rauch, A. <strong>Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.</strong> Am. J. Hum. Genet. 77: 795-806, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252239</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252239[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/497708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252239">Thiel et al. (2005)</a> found that both affected members were compound heterozygous for 2 mutations of the RMRP gene: 14G-A and 90_91AG-GC (<a href="#0020">157660.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16252239+11370632" 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 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, AG-GC, NT90
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906533 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906533;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=rs387906533" 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=rs387906533" 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=RCV000015295 OR RCV003593859 OR RCV004700239" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015295, RCV003593859, RCV004700239" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015295...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with 2 affected children with anauxetic dysplasia (ANXD1; <a href="/entry/607095">607095</a>) reported by <a href="#7" class="mim-tip-reference" title="Horn, D., Rupprecht, E., Kunze, J., Spranger, J. <strong>Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. (Letter)</strong> J. Med. Genet. 38: 262-265, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11370632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11370632</a>] [<a href="https://doi.org/10.1136/jmg.38.4.262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11370632">Horn et al. (2001)</a> and in a single patient (patient 3), <a href="#23" class="mim-tip-reference" title="Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Ruschendorf, F., Sticht, H., Spranger, J., Muller, D., Zweier, C., Schmitt, M. E., Reis, A., Rauch, A. <strong>Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.</strong> Am. J. Hum. Genet. 77: 795-806, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252239</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252239[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/497708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252239">Thiel et al. (2005)</a> found the same mutation in the RMRP gene, 90_91AG-GC. The family and the single patient were from the same region of Germany and carried the 90_91AG-GC mutation on the same ancestral haplotype, confirming a founder effect. The mutation occurred in compound heterozygosity in all 3 individuals, with a 14G-A mutation in the family (<a href="#0019">157660.0019</a>) and with a 254C-G mutation in the single patient (<a href="#0021">157660.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16252239+11370632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0021" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 254C-G
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1170858087 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1170858087;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1170858087?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1170858087" 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=rs1170858087" 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=RCV000015296 OR RCV000667620" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015296, RCV000667620" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015296...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#23" class="mim-tip-reference" title="Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Ruschendorf, F., Sticht, H., Spranger, J., Muller, D., Zweier, C., Schmitt, M. E., Reis, A., Rauch, A. <strong>Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.</strong> Am. J. Hum. Genet. 77: 795-806, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252239</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252239[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/497708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16252239">Thiel et al. (2005)</a> found an individual (patient 3) with anauxetic dysplasia (ANXD1; <a href="/entry/607095">607095</a>), the offspring of nonconsanguineous parents, to be compound heterozygous for 90_91AG-GC (<a href="#0020">157660.0020</a>) and 254C-G mutations in the RMRP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16252239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0022" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 10-BP DEL, NT254
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1383432106 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1383432106;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=rs1383432106" 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=rs1383432106" 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=RCV000015297 OR RCV000527817 OR RCV001273824 OR RCV002497125 OR RCV003905394" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015297, RCV000527817, RCV001273824, RCV002497125, RCV003905394" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015297...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with anauxetic dysplasia (ANXD1; <a href="/entry/607095">607095</a>), <a href="#24" class="mim-tip-reference" title="Thiel, C. T., Mortier, G., Kaitila, I., Reis, A., Rauch, A. <strong>Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.</strong> Am. J. Hum. Genet. 81: 519-529, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701897[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/521034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17701897">Thiel et al. (2007)</a> found compound heterozygosity for a 10-bp null mutation of the RMRP gene (254_263delCTCAGCGCGG) and the transcribed mutation 195C-T (<a href="#0009">157660.0009</a>), which had previously been described in patients with milder phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17701897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0023" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 155G-T
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs752709977 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752709977;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs752709977?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs752709977" 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=rs752709977" 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=RCV000665758 OR RCV002285169" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000665758, RCV002285169" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000665758...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Finnish patient with metaphyseal dysplasia without hypotrichosis (MDWH; <a href="/entry/250460">250460</a>), <a href="#26" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[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/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al. (2020)</a> identified compound heterozygosity for mutations in the RMRP gene, a 155G-T transversion (n.155G-T, NR_003051.3) and a deletion/insertion in the promoter (n.-5delins21, <a href="#0024">157660.0024</a>). This patient developed severe agranulocytosis at age 18 years and underwent hematopoietic stem cell transplantation (HSCT). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0024" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
RMRP, 1-BP DEL/21-BP INS, PROMOTER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV002285035" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002285035" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002285035</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the deletion/insertion mutation (n.-5delins21, NR_003051.3) in the RMRP gene that was found in compound heterozygous state in a patient with metaphyseal dysplasia without hypotrichosis (MDWH; <a href="/entry/250460">250460</a>) by <a href="#26" class="mim-tip-reference" title="Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O. <strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong> J. Med. Genet 57: 18-22, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[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/10.1136/jmedgenet-2019-106131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31413121">Vakkilainen et al. (2020)</a>, see <a href="#0023">157660.0023</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31413121" 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="Bonafe2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A.
|
|
<strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong>
|
|
Clin. Genet. 61: 146-151, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2002.610210.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Chang1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chang, D. D., Clayton, D. A.
|
|
<strong>A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication.</strong>
|
|
EMBO J. 6: 409-417, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3582365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3582365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3582365" 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/j.1460-2075.1987.tb04770.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Clayton2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Clayton, D. A.
|
|
<strong>A big development for a small RNA.</strong>
|
|
Nature 410: 29-31, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/35065191" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Hermanns2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hermanns, P., Bertuch, A. A., Bertin, T. K., Dawson, B., Schmitt, M. E., Shaw, C., Zabel, B., Lee, B.
|
|
<strong>Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.</strong>
|
|
Hum. Molec. Genet. 14: 3723-3740, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16254002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16254002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16254002" 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/ddi403" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Hermanns2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hermanns, P., Tran, A., Munivez, E., Carter, S., Zabel, B., Lee, B., Leroy, J. G.
|
|
<strong>RMRP mutations in cartilage-hair hypoplasia.</strong>
|
|
Am. J. Med. Genet. 140A: 2121-2130, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16838329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16838329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16838329" 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.31331" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Hirose2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hirose, Y., Nakashima, E., Ohashi, H., Mochizuki, H., Bando, Y., Ogata, T., Adachi, M., Toba, E., Nishimura, G., Ikegawa, S.
|
|
<strong>Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.</strong>
|
|
J. Hum. Genet. 51: 706-710, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16832578" 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/s10038-006-0015-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Horn2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Horn, D., Rupprecht, E., Kunze, J., Spranger, J.
|
|
<strong>Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. (Letter)</strong>
|
|
J. Med. Genet. 38: 262-265, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11370632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11370632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11370632" 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.38.4.262" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Hsieh1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hsieh, C.-L., Donlon, T. A., Darras, B. T., Chang, D. D., Topper, J. N., Clayton, D. A., Francke, U.
|
|
<strong>The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4.</strong>
|
|
Genomics 6: 540-544, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2328993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2328993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2328993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(90)90483-b" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Hsieh1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hsieh, C.-L., Donlon, T. A., Darras, B. T., Chang, D., Topper, J. N., Clayton, D. A., Francke, U.
|
|
<strong>The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1016 only, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Huang2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, W., Thomas, B., Flynn, R. A., Gavzy, S. J., Wu, L., Kim, S. V., Hall, J. A., Miraldi, E. R., Ng, C. P., Rigo, F., Meadows, S., Montoya, N. R., and 9 others.
|
|
<strong>DDX5 and its associated lncRNA Rmrp modulate T(H)17 cell effector functions.</strong>
|
|
Nature 528: 517-522, 2015. Note: Erratum: Nature 533: 130 only, 2016. Retraction: Nature 562: 150 only, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26675721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26675721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26675721" 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/nature16193" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Klemetti2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Klemetti, P., Valta, H., Kostjukovits, S., Taskinen, M., Toiviainen-Salo, S., Makitie, O.
|
|
<strong>Cartilage-hair hypoplasia with normal height in childhood--4 patients with a unique genotype.</strong>
|
|
Clin. Genet. 92: 204-207, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28094436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28094436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28094436" 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/cge.12969" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Kuijpers2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kuijpers, T. W., Ridanpaa, M., Peters, M., de Boer, I., Vossen, J. M. J. J., Pals, S. T., Kaitila, I., Hennekam, R. C. M.
|
|
<strong>Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR (sic) gene.</strong>
|
|
J. Med. Genet. 40: 761-766, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569125" 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.40.10.761" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Maida2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Maida, Y., Yasukawa, M., Furuuchi, M., Lassmann, T., Possemato, R., Okamoto, N., Kasim, V., Hayashizaki, Y., Hahn, W. C., Masutomi, K.
|
|
<strong>An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.</strong>
|
|
Nature 461: 230-235, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19701182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19701182</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19701182[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=19701182" 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/nature08283" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Menger1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Menger, H., Mundlos, S., Becker, K., Spranger, J., Zabel, B.
|
|
<strong>An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.</strong>
|
|
Am. J. Med. Genet. 63: 80-83, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723091" 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)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Nakashima2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S.
|
|
<strong>RMRP mutations in Japanese patients with cartilage-hair hypoplasia.</strong>
|
|
Am. J. Med. Genet. 123A: 253-256, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14608646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14608646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14608646" 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.20281" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Nakashima2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nakashima, E., Tran, J. R., Welting, T. J. M., Pruijn, G. J. M., Hirose, Y., Nishimura, G., Ohashi, H., Schurman, S. H., Cheng, J., Candotti, F., Nagaraja, R., Ikegawa, S., Schlessinger, D.
|
|
<strong>Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.</strong>
|
|
Am. J. Med. Genet. 143A: 2675-2681, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17937437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17937437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17937437" 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.32053" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Ridanpaa2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ridanpaa, M., Jain, P., McKusick, V. A., Francomano, C. A., Kaitila, I.
|
|
<strong>The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.</strong>
|
|
Am. J. Med. Genet. 121C: 81-83, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12888988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12888988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12888988" 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.c.20006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Ridanpaa2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ridanpaa, M., Sistonen, P., Rockas, S., Rimoin, D. L., Makitie, O., Kaitila, I.
|
|
<strong>Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A-G mutation of the untranslated RMRP.</strong>
|
|
Europ. J. Hum. Genet. 10: 439-447, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12107819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12107819</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12107819" 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/sj.ejhg.5200824" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Ridanpaa2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A.
|
|
<strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong>
|
|
Cell 104: 195-203, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207361" 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/s0092-8674(01)00205-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Ridanpaa2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ridanpaa, M., Ward, L. M., Rockas, S., Sarkioja, M., Makela, H., Susic, M., Glorieux, F. H., Cole, W. G., Makitie, O.
|
|
<strong>Genetic changes in the RNA components of RNase MRP and RNase in Schmid metaphyseal chondrodysplasia.</strong>
|
|
J. Med. Genet. 40: 741-746, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14569119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14569119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14569119" 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.40.10.741" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Rogler2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rogler, L. E., Kosmyna, B., Moskowitz, D., Bebawee, R., Rahimzadeh, J., Kutchko, K., Laederach, A., Notarangelo, L. D., Giliani, S., Bouhassira, E., Frenette, P., Roy-Chowdhury, J., Rogler, C. E.
|
|
<strong>Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.</strong>
|
|
Hum. Molec. Genet. 23: 368-382, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24009312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24009312</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24009312[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=24009312" 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/ddt427" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Sulisalo1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sulisalo, T., Makitie, O., Sistonen, P., Ridanpaa, M., El-Rifai, W., Ruuskanen, O., de la Chapelle, A., Kaitila, I.
|
|
<strong>Uniparental disomy in cartilage-hair hypoplasia.</strong>
|
|
Europ. J. Hum. Genet. 5: 35-42, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9156319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9156319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9156319" 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="23" class="mim-anchor"></a>
|
|
<a id="Thiel2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Ruschendorf, F., Sticht, H., Spranger, J., Muller, D., Zweier, C., Schmitt, M. E., Reis, A., Rauch, A.
|
|
<strong>Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.</strong>
|
|
Am. J. Hum. Genet. 77: 795-806, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16252239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16252239</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16252239[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=16252239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/497708" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Thiel2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thiel, C. T., Mortier, G., Kaitila, I., Reis, A., Rauch, A.
|
|
<strong>Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.</strong>
|
|
Am. J. Hum. Genet. 81: 519-529, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17701897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17701897</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17701897[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=17701897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/521034" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Topper1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Topper, J. N., Clayton, D. A.
|
|
<strong>Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP.</strong>
|
|
Nucleic Acids Res. 18: 793-799, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1690392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1690392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1690392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/18.4.793" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Vakkilainen2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O.
|
|
<strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong>
|
|
J. Med. Genet 57: 18-22, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31413121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31413121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31413121[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=31413121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmedgenet-2019-106131" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Williams2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Williams, M. S., Ettinger, R. S., Hermanns, P., Lee, B., Carlsson, G., Taskinen, M., Makitie, O.
|
|
<strong>The natural history of severe anemia in cartilage-hair hypoplasia.</strong>
|
|
Am. J. Med. Genet. 138A: 35-40, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16097009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16097009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16097009" 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.30902" 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">
|
|
Sonja A. Rasmussen - updated : 09/21/2022
|
|
</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">
|
|
Sonja A. Rasmussen - updated : 07/27/2022<br>Sonja A. Rasmussen - updated : 06/17/2019<br>Patricia A. Hartz - updated : 10/28/2016<br>Paul J. Converse - updated : 08/19/2016<br>Ada Hamosh - updated : 10/13/2009<br>Marla J. F. O'Neill - updated : 8/5/2009<br>George E. Tiller - updated : 4/23/2009<br>Victor A. McKusick - updated : 8/16/2007<br>Victor A. McKusick - updated : 6/18/2007<br>Marla J. F. O'Neill - updated : 10/24/2006<br>Victor A. McKusick - updated : 10/12/2005<br>Victor A. McKusick - updated : 2/12/2004<br>Victor A. McKusick - updated : 1/5/2004<br>Victor A. McKusick - updated : 8/21/2003<br>Victor A. McKusick - updated : 9/3/2002<br>Victor A. McKusick - updated : 5/10/2002<br>Victor A. McKusick - updated : 3/2/2001<br>Stylianos E. Antonarakis - updated : 1/29/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/1/1989
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 09/21/2022
|
|
</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">
|
|
alopez : 07/27/2022<br>carol : 06/18/2019<br>carol : 06/17/2019<br>carol : 06/17/2019<br>carol : 04/22/2019<br>carol : 08/25/2017<br>alopez : 03/21/2017<br>carol : 03/09/2017<br>carol : 03/09/2017<br>mgross : 10/28/2016<br>mgross : 08/19/2016<br>mgross : 08/19/2016<br>carol : 03/20/2015<br>mcolton : 3/20/2015<br>alopez : 1/22/2015<br>carol : 4/16/2014<br>alopez : 10/21/2009<br>terry : 10/13/2009<br>wwang : 9/1/2009<br>terry : 8/5/2009<br>wwang : 6/30/2009<br>terry : 4/23/2009<br>alopez : 8/23/2007<br>terry : 8/16/2007<br>alopez : 6/19/2007<br>terry : 6/18/2007<br>carol : 6/13/2007<br>carol : 6/13/2007<br>wwang : 10/25/2006<br>terry : 10/24/2006<br>alopez : 10/13/2005<br>terry : 10/12/2005<br>tkritzer : 12/9/2004<br>mgross : 3/8/2004<br>carol : 2/12/2004<br>carol : 2/12/2004<br>carol : 1/20/2004<br>carol : 1/14/2004<br>cwells : 1/5/2004<br>tkritzer : 8/25/2003<br>terry : 8/21/2003<br>tkritzer : 3/31/2003<br>tkritzer : 3/28/2003<br>terry : 3/26/2003<br>cwells : 9/4/2002<br>terry : 9/3/2002<br>alopez : 5/28/2002<br>terry : 5/10/2002<br>cwells : 3/7/2001<br>terry : 3/2/2001<br>mgross : 1/29/2001<br>mgross : 1/29/2001<br>dkim : 12/15/1998<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 3/1/1990<br>carol : 12/12/1989<br>ddp : 10/27/1989<br>root : 9/23/1989
|
|
</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> 157660
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
LONG NONCODING RNA RMRP<br />
|
|
lncRNA RMRP<br />
|
|
RMRPR
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: RMRP</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 7720002;
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 9p13.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 9:35,657,750-35,658,019 </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="3">
|
|
<span class="mim-font">
|
|
9p13.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Anauxetic dysplasia 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
607095
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cartilage-hair hypoplasia
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
250250
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Metaphyseal dysplasia without hypotrichosis
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
250460
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Mitochondrial RNA-processing endoribonuclease (RNase MRP) cleaves mitochondrial RNA complementary to the light chain of the displacement loop (D loop) at a unique site (Chang and Clayton, 1987). The enzyme is a ribonucleoprotein whose RNA component is a nuclear gene product. The RNA component is the first known RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RMRP gene is untranslated, i.e., it encodes an RNA, not a protein (summary by Hsieh et al., 1990). </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>Topper and Clayton (1990) cloned human RMRP from a placenta genomic DNA library. The RMRP transcript contains approximately 265 nucleotides but shows some heterogeneity at the 3-prime end. Mouse and human RMRP share approximately 84% identity within the transcribed region, and they are similar as far as 715 bp upstream. Little to no homology exists between them in the downstream region. Northern blot analysis of fractionated mouse and human cells revealed RMRP expression in nucleus and mitochondria. A processed form of human RMRP, representing 108 nucleotides from the 3-prime region, in addition to the 5-prime fragment, was detected in the mitochondrial fraction of human KB cells. A similar cleavage occurred in mouse Rmrp, but was offset by 17 bases compared with the human cleavage site. In both cases, processing occurred at the sequence ANCCCGC. </p><p>By sequencing normal human liver RNA, Rogler et al. (2014) identified RNAs of about 20 nucleotides originating from the 5-prime end of the RMRP transcript, which they called RMRPS1, and the middle of the RMRP transcript, which they called RMRPS2. RNA sequencing and Northern blot analysis showed that the ratio of RMRPS1 to RMRPS2 transcripts differed among human cells and tissues, and between normal and disease state. These small RNAs represented only a small fraction of total RMRP. In addition to RMRPS1 and RMRPS2 transcripts, Northern blot analysis revealed numerous larger fragments corresponding to the 5-prime and 3-prime ends of RMRP. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Rogler et al. (2014) determined the secondary structure of RMRP in solution. RMRP could adopt at least 2 alternative structures, and the RMRPS1 and RMRPS2 RNAs originated from distinct stem-loop structures. The authors hypothesized that the 2 conformations of RMRP may differentially promote processing of RMRPS1 and RMRPS2. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By study of interspecific somatic cell hybrids and by in situ hybridization, Hsieh et al. (1989, 1990) located the RMRP gene to 9p21-p12. By interspecific hybrids, the corresponding gene was assigned to mouse chromosome 4. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using inhibitory complementary oligonucleotides, Topper and Clayton (1990) showed that both the 5-prime and 3-prime ends of human RMRP were required for endonuclease activity by ribonucleoproteins from mitochondrial and nuclear extracts. </p><p>Clayton (2001) discussed the probable function of RMRP. </p><p>To provide a physiologic demonstration of a function for RNase MRP in mammalian cells, Thiel et al. (2005) performed functional studies in yeast and humans. They showed that different RMRP gene mutations lead to decreased cell growth by impairing ribosomal assembly and by altering cyclin-dependent cell cycle regulation. Clinical heterogeneity was explained by a correlation between the level and type of functional impairment in vitro and the severity of short stature or predisposition to cancer. Whereas the cartilage-hair hypoplasia (CHH; 250250) founder 70A-G mutation (157660.0001) affected both pathways intermediately, mutations resulting in anauxetic dysplasia (607095) did not affect B-cyclin (123836) mRNA levels but did severely incapacitate ribosomal assembly via defective endonucleolytic cleavage. Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP. </p><p>Maida et al. (2009) demonstrated that TERT (187270) interacts with RMRP, which is mutated in cartilage-hair hypoplasia. Human TERT and RMRP form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs (dsRNAs) that can be processed into small interfering RNA (siRNA) in a Dicer (606241)-dependent manner. Maida et al. (2009) showed that the human TERT-RMRP RNA-dependent RNA polymerase (RdRP) shows a strong preference for RNA templates that can form 3-prime fold-back structures. Using RMRP as a template, the TERT-RMRP RdRP produces dsRNAs that are processed by Dicer into 22-nucleotide dsRNAs that contain 5-prime monophosphate and 3-prime hydroxyl groups that are loaded into AGO2 (606229), confirming that these short RNAs represent endogenous siRNAs. The involvement of human TERT in 2 syndromes characterized by stem cell failure (cartilage-hair hypoplasia and dyskeratosis congenita, 127550) suggested to Maida et al. (2009) that ribonucleoprotein complexes containing TERT have a critical role in stem cell biology. </p><p>Using small interfering RNA, Rogler et al. (2014) found that knockdown of DICER (DICER1; 606241) reduced RMRPS1 and RMRPS2 transcript levels in HEK293 cells. Using mimic and oligonucleotide inhibitors, they found that RMRPS1 and RMRPS2 transcripts had widespread effects on gene regulation, with both predominantly repressing gene expression. Analysis of gene pathways suggested that RMRPS1 was predominantly involved in regulation of connective tissue and osteoblast development and maturation, whereas RMRPS2 was predominantly involved in skeletal and muscle development, hematologic system development, and cancer. Both appeared to regulate genes important in cellular proliferation and that produce components of the U11/U12 spliceosome (e.g., RNU4ATAC; 601428). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Cartilage-Hair Hypoplasia</em></strong></p><p>
|
|
Using a positional cloning strategy and mutation analysis, Ridanpaa et al. (2001) showed that homozygous or compound heterozygous mutations in the RMRP gene (157660.0001-157660.0008) are responsible for cartilage-hair hypoplasia (CHH; 250250), an autosomal recessive disorder characterized by disproportionate short stature, hypoplastic hair, ligamentous laxity, defective immunity, hypoplastic anemia, and neuronal dysplasia of the intestine. The mutations identified in patients with CHH were of 2 distinct types. The first category consisted of insertions or duplications between 6 and 30 nucleotides long residing in the region between the TATA box and the transcription initiation site. These mutations interfered with the transcription of the RMRP gene. The second category consisted of single-nucleotide substitutions and other changes involving at most 2 nucleotides. These resided in highly conserved residues of the transcribed sequence. </p><p>Ridanpaa et al. (2002) described 36 different mutations in the RMRP gene in 91 Finnish and 44 non-Finnish CHH families. Based on their nature and localization, these mutations could be classified into 3 categories: mutations affecting the promoter region, small changes of conserved nucleotides in the transcript, and insertions and duplications in the 5-prime end of the transcript. The only region of known function that seemed to avoid mutations was the nucleolar localization signal region between nucleotides 23 and 62. Eight different mutations in the promoter region and 28 mutations in the RNA coding region of 267 nucleotides were reported. The most common mutation in CHH patients was the 70A-G transition (157600.0001). This mutation represented 92% of the mutations in Finnish CHH patients. Studies of linkage disequilibrium based on maximum likelihood estimates with close markers, genealogic studies, and haplotype data suggested that the mutation was introduced to Finland some 3,900 to 4,800 years ago and before the expansion of the population. The same major mutation accounted for 48% of the mutations among CHH patients from other parts of Europe, North and South America, the Near East, and Australia. In the non-Finnish CHH families, the 70A-G mutation segregated with the same major haplotype, although shorter, as in most of the Finnish families. In 23 of these 27 chromosomes, the common region extended over 60 kb; therefore, all the chromosomes most likely arose from a solitary event many thousands of years ago. </p><p>Among the sporadic cases of CHH in which Ridanpaa et al. (2002) identified mutations in the RMRP gene were 1 from China, 2 from Israel, and 1 from Turkey. Families with more than 1 affected member affected by CHH and found to have RMRP mutations were from Saudi Arabia and Poland. </p><p>Nakashima et al. (2003) identified novel mutations in the RMRP gene in Japanese patients, but did not find the 70A-G common founder mutation in any of the 12 patients studied. </p><p>Kuijpers et al. (2003) described a female patient in whom the diagnosis of kyphomelic dysplasia (211350) was made in infancy because of her short-limb dwarfism and kyphomelia, especially of the femurs. She developed a combined aplastic anemia and immunodeficiency by the age of 2 years. These responded well to allogeneic bone marrow transplantation from her HLA-identical brother at the age of 3 years. Growth remained extremely retarded, however. Clinical and radiologic features reported up to the age of 8 years gradually changed and became more typical for CHH, as was confirmed by the finding of compound heterozygosity for 2 novel mutations in the RMRP gene: 195insT (157660.0016) and 63C-T (157660.0017). The 63C-T mutation was said to have previously been found in an Australian CHH patient. Both mutations resided in evolutionarily conserved nucleotides and were not found in healthy controls. Molecular studies in the parents showed the father to have the 195insT and the mother to have the 63C-T mutation. </p><p>Hermanns et al. (2005) studied the effects of mutations in both the promoter and the transcribed region of RMRP. While mutations in the promoter abolished transcription in vitro, RMRP RNA levels in patients with transcribed mutations were also decreased, suggesting an unstable RNA. RMRP mutations introduced into the yeast ortholog nuclear mitochondrial endonuclease-1 (Nme1) exhibited normal mitochondrial function, chromosomal segregation, and cell cycle progression, while a CHH fibroblast cell line exhibited normal mitochondrial content. However, the most commonly found mutation in CHH patients, 70A-G (157660.0001), caused an alteration in ribosomal processing by altering the ratio of the short versus the long form of the 5.8S rRNA in yeast. Transcriptional profiling of CHH patient RNAs showed upregulation of several cytokines and cell cycle regulatory genes, 1 of which has been implicated in chondrocyte hypertrophy. Hermanns et al. (2005) suggested that alteration of ribosomal processing in CHH may be associated with altered cytokine signaling and cell cycle progression in terminally differentiating cells in the lymphocytic and chondrocytic cell lineages. </p><p>Hirose et al. (2006) screened 9 Japanese patients for mutations in the RMRP gene and identified homozygous or compound heterozygous mutations in 6 patients. The authors noted that the 70A-G founder mutation prevalent in Western populations had not been found in Japanese patients, whereas 2 mutations common in Japanese patients, 218A-G (157660.0013) and a 17-bp duplication at nucleotide 3 (157660.0014), had not been reported in other populations. Haplotype analysis revealed that the 2 latter mutations were contained within rare distinct haplotypes, indicating the presence of unique founders among Japanese CHH patients. Hirose et al. (2006) observed that none of the Japanese patients they evaluated exhibited all of the skeletal, hair, and immunologic features characteristic of classic CHH. </p><p>In 27 CHH patients referred for molecular evaluation of the clinical diagnosis, Hermanns et al. (2006) found RMRP mutations in 22. The phenotype in 1 of the 5 mutation-negative patients was fully congruent with the adopted case definition of CHH. In a second of these patients, the diagnosis of Schmid type metaphyseal chondrodysplasia (156500) was made and confirmed by the detection of a mutation in the COL10A1 gene. The remaining patients most likely represented one or more metaphyseal chondrodysplasias not hitherto delineated. The pattern of cumulative growth in infancy and early childhood in the latter 4 patients was the single feature with greatest negative predictive power for CHH. Fourteen of the mutations reported by Hermanns et al. (2006) had not been reported previously. Only 4 of 22 CHH patients were homozygous for the 70A-G mutation. Ridanpaa et al. (2002) postulated that the 70A-G mutation was of ancient founder origin. </p><p>Nakashima et al. (2007) performed RT-PCR analysis of cDNA from CHH patients carrying RMRP mutations, including 2 promoter mutations, a 16-bp duplication at +1 and a 17-bp duplication at +3 (157660.0014), and 2 transcribed mutations, 168G-A and 218A-G (157660.0013), and confirmed lower expression levels of RMRP for all mutations. By 5-prime RACE analysis, they showed that reduced transcription in the promoter mutants was accompanied by shifting of the transcription initiation sites to nucleotides 5-prime upstream of the authentic site. By RT-PCR analysis of mouse fibroblasts transfected with transcribed mutant RMRP, they confirmed reduced RMRP expression. Reduced transcription correlated with greater instability of mutant RMRP transcripts compared to controls. A comparable reduction of transcription was seen when the major CHH mutation 70A-G was introduced into mouse ES cells, and low expression level of the 70A-G Rmrp RNA was confirmed by expression assays in cultured cells, and again correlated with RNA instability. Nakashima et al. (2007) concluded that loss of mutant RNA transcripts is a critical feature of pathogenesis of CHH. </p><p>In a Finnish girl with CHH who had normal height in childhood, Klemetti et al. (2017) identified compound heterozygosity for mutations in the RMRP gene: the 70A-G mutation and a 10-bp duplication (157660.0003). Her parents were each heterozygous for one of the mutations. Klemetti et al. (2017) identified 3 additional Finnish patients with this genotype, 2 of whom had unusually mild growth failure. Despite their mild growth retardation, the patients had evidence of significant immunodeficiency. </p><p><strong><em>Metaphyseal Dysplasia without Hypotrichosis</em></strong></p><p>
|
|
Bonafe et al. (2002) identified compound heterozygous mutations in the RMRP gene (157660.0001; 157660.0009-157660.0011) in 2 unrelated patients with metaphyseal dysplasia without hypotrichosis (MDWH; 250460) and concluded that the disorder is a variant of CHH, manifesting only as short stature and metaphyseal dysplasia. Sequencing 120 RMRP alleles from a control group, Bonafe et al. (2002) found an unusually high density of single-nucleotide polymorphisms (SNPs) in and around the RMRP gene. The biologic significance of this finding was unclear. </p><p>Ridanpaa et al. (2003) studied the RMRP gene and the H1RNA gene (608513) in 20 patients with the diagnosis of Schmid-type metaphyseal chondrodysplasia (156500) in whom no mutations were detectable in the COL10A1 gene (120110). Two patients were found to be homozygous for a 70A-G transition in the RMRP gene, which is the major mutation causing CHH. The description suggests the metaphyseal dysplasia without hypotrichosis described by Bonafe et al. (2002). </p><p>Among 10 Finnish patients with MDWH, Vakkilainen et al. (2020) found that 7 were homozygous for the 71A-G founder mutation (157660.0001) and 3 were compound heterozygous for the founder mutation with 263G-T (157660.0002). No evidence of genotype-phenotype correlation was seen. </p><p>In a Finnish patient with MDWH, Vakkilainen et al. (2020) identified compound heterozygosity for variants in the RMRP gene, 155G-T (157660.0023) and -5delins21 (157660.0024). </p><p><strong><em>Anauxetic Dysplasia</em></strong></p><p>
|
|
Thiel et al. (2005) performed positional cloning at the locus for anauxetic dysplasia (ANXD; 607095), a rare autosomal recessive spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Homozygosity mapping led to the identification of novel mutations in the RMRP gene (157660.0018-157660.0021), indicating that the disorder is allelic to cartilage-hair hypoplasia (250250) as well as to metaphyseal dysplasia without hypotrichosis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Thiel et al. (2007) stated that in addition to the founder mutation 70A-G, which is present in 92% of Finnish and 48% of non-Finnish patients with CHH, a total of 25 insertions or duplications between the TATA box and the transcription start site and more than 62 other mutations within the RMRP gene had been identified in patients with phenotypes in the cartilage hair hypoplasia-anauxetic dysplasia (CHH-ANXD) spectrum. That spectrum, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis (MDWH; 250460) and CHH to the severe anauxetic dysplasia, includes different degrees of short stature, hair hypoplasia, defective erythrogenesis, and immunodeficiency. To investigate the genotype-phenotype correlation, Thiel et al. (2007) analyzed the position and the functional effect of 13 mutations in patients with variable features of the CHH-ANXD spectrum. Those at the severe end of the spectrum included a patient with anauxetic dysplasia who was compound heterozygous for a null deletion mutation (157660.0022) and the 195C-T mutation (see 157660.0009), which had been described in patients with milder phenotypes. Mapping of nucleotide conservation to the 2-dimensional structure of the RMRP transcript showed that disease-causing mutations either affect evolutionarily conserved nucleotides or are likely to alter secondary structure through mispairing in stem regions. In vitro testing of mitochondrial RNA-processing ribonuclease multiprotein-specific mRNA and rRNA cleavage of different mutations showed a strong correlation between the decrease in rRNA cleavage in ribosomal assembly and the degree of bone dysplasia, whereas reduced mRNA cleavage, and thus cell cycle impairment, predicted the presence of hair hypoplasia, immunodeficiency, and hematologic abnormalities and thus increased cancer risk. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The article by Huang et al. (2015) identifying Ddx5 as an Ror-gamma-t (see 602943)-interacting protein in mouse T-helper-17 (Th17) cells (see IL17A, 603149) and concluding that gly270 in Rmrp was critical for Ddx5-Ror-gamma-t complex assembly and for recruitment of Rmrp to Ror-gamma-t loci to coordinate the Th17 effector program was retracted because key aspects of the original results could not be replicated. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>24 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 70A-G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs199476103,
|
|
|
|
|
|
gnomAD: rs199476103,
|
|
|
|
|
|
ClinVar: RCV000015275, RCV000015276, RCV000313899, RCV000555900, RCV000763613, RCV003944823
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Cartilage-Hair Hypoplasia</em></strong></p><p>
|
|
Ridanpaa et al. (2001) identified homozygosity for an A-to-G transition at nucleotide 70 (70A-G) of the RMRP gene in 42 Finnish families with cartilage-hair hypoplasia (CHH; 250250), including 12 with more than 1 affected child and 30 with a single affected child. All of these families carried modifications of the ancestral haplotype of DNA polymorphisms. In additional CHH patients, the authors identified the 70A-G mutation in compound heterozygosity with another RMRP mutation (e.g., 157660.0002). Another patient, who had been described as patient A by Sulisalo et al. (1997), had uniparental disomy for chromosome 9 with 2 copies of the maternal, 70A-G mutation-carrying chromosome, and no paternal chromosome 9. The 70A-G mutation was detected in heterozygosity in 1 of 120 Finnish control samples and in 2 of 160 non-Finnish control samples. </p><p>Ridanpaa et al. (2003) reported that the most frequent, and perhaps only, mutation causing CHH in the Old Order Amish in the United States (in whom the disorder was first described) is the same 70A-G transition that is the major mutation causing CHH in Finns. They stated that although more than 40 different mutations in the RMRP gene had been characterized in other populations, 70A-G was the most common CHH-causing mutation worldwide. The mutation segregates with the same major haplotype in Finns and Amish and others, suggesting that it is very ancient. </p><p>Ridanpaa et al. (2003) found homozygosity for the common Finnish mutation in 2 of 20 Canadian patients diagnosed with Schmid-type metaphyseal chondrodysplasia (156500) without the usual autosomal dominant mutation in COL10A1 (120110). The patients later developed features more typical of CHH. </p><p>Hermanns et al. (2006) found the 70A-G mutation in patient number 1 of Williams et al. (2005) with CHH complicated by severe macrocytic anemia. Repeated transfusions with irradiated packed red blood cells were required. The patient remained transfusion-dependent but showed no signs of compromised immunity. The usually mild anemia of CHH is most probably self-limited. However, over half of CHH patients with severe anemia may require life-long transfusions and bone marrow transplantation (Williams et al., 2005). </p><p>The so-called Finnish-Amish common transition 70A-G was observed in 12 alleles among 22 confirmed CHH patients (27%) by Hermanns et al. (2006). </p><p>Klemetti et al. (2017) identified 4 Finnish patients with CHH who were compound heterozygous for the 70A-G mutation and a 10-bp duplication at posistion -13 (TACTCTGTGA) (157660.0003) in the RMRP gene. Three of the 4 had unusually mild growth failure, but evidence of significant immunodeficiency. </p><p><strong><em>Metaphyseal Dysplasia without Hypotrichosis</em></strong></p><p>
|
|
In an Austrian boy with metaphyseal chondrodysplasia without hypotrichosis (MDWH; 250460), Bonafe et al. (2002) identified compound heterozygosity for mutations in the RMRP gene: the common Finnish 70A-G mutation and a 238C-T transition (157660.0009). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 262G-T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs727502774,
|
|
|
|
|
|
gnomAD: rs727502774,
|
|
|
|
|
|
ClinVar: RCV000015277, RCV001207690, RCV002496369
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 Finnish families with cartilage-hair hypoplasia (CHH; 250250), including 1 family with 2 affected children, Ridanpaa et al. (2001) identified a G-to-T transversion at nucleotide 262 (262G-T) of the RMRP gene in compound heterozygosity with the 70A-G mutation (157660.0001). The chromosomes carrying the 262G-T mutation shared a haplotype that differed from that of the main ancestral one. The 262G-T mutation was not detected in any of 120 Finnish and 160 non-Finnish controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 10-BP DUP, NT-13
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554651507,
|
|
|
|
|
|
|
|
ClinVar: RCV000015278, RCV000799677, RCV002490373
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ridanpaa et al. (2001) identified a 10-bp duplication (TACTCTGTGA) at position -13 of the RMRP gene in compound heterozygosity with the 70A-G mutation (157660.0001) in 2 Finnish families with cartilage-hair hypoplasia (CHH; 250250). The chromosomes carrying this mutation shared a haplotype that differed from the ancestral one. This and all other duplication-insertions found in the RMRP gene were not detected in 120 Finnish and 160 non-Finnish controls. </p><p>Klemetti et al. (2017) identified 4 Finnish patients with CHH who were compound heterozygous for the 10-bp duplication at position -13 and the 70A-G mutation in the RMRP gene. Three of the 4 had unusually mild growth failure but evidence of significant immunodeficiency. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 15-BP DUP, NT-10
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs727502776,
|
|
|
|
|
|
gnomAD: rs727502776,
|
|
|
|
|
|
ClinVar: RCV000015279, RCV000694726, RCV002223757, RCV002496370
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Swiss patient with cartilage-hair hypoplasia (CHH; 250250), Ridanpaa et al. (2001) identified a 15-bp duplication (ACTACTCTGTGAAGC) that occurred twice at position -10 of the RMRP gene in compound heterozygosity with a 2-bp duplication at nucleotide 98 (157660.0005). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 2-BP DUP, 98TG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1340624774,
|
|
|
|
|
|
gnomAD: rs1340624774,
|
|
|
|
|
|
ClinVar: RCV000015280, RCV000529672, RCV002263773
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ridanpaa et al. (2001) identified a 2-bp duplication (TG) at nucleotide 98 of the RMRP gene in compound heterozygosity with a 15-bp duplication at position -10 (157660.0004) in a Swiss patient with cartilage-hair hypoplasia (250250) and with the 70A-G mutation (157660.0001) in a Canadian patient with CHH. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 6-BP INS, NT-6
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554651446,
|
|
|
|
|
|
|
|
ClinVar: RCV000015281
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ridanpaa et al. (2001) identified a 6-bp insertion (CCTGAG) at position -6 of the RMRP gene in compound heterozygosity with the 70A-G mutation (157660.0001) in a German patient with cartilage-hair hypoplasia (CHH; 250250). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 18-BP DUP, NT-3
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs727502778,
|
|
|
|
|
|
gnomAD: rs727502778,
|
|
|
|
|
|
ClinVar: RCV000015282, RCV001248044, RCV002482870, RCV003156213
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an English patient with cartilage-hair hypoplasia (CHH; 250250), Ridanpaa et al. (2001) identified an 18-bp duplication (TCTGTGAAGCTGAGGAC) at position -3 of the RMRP gene in compound heterozygosity with a G-to-A transition at nucleotide 193 (193G-A; 157660.0008). The 193G-A mutation was not found in 112 Finnish and 93 non-Finnish controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 193G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs761398394,
|
|
|
|
|
|
gnomAD: rs761398394,
|
|
|
|
|
|
ClinVar: RCV001193444, RCV002491588, RCV002559222
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 193G-A transition in the RMRP gene that was found in a patient with cartilage-hair hypoplasia (CHH; 250250) by Ridanpaa et al. (2001), see 157660.0007. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 238C-T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs749667892,
|
|
|
|
|
|
gnomAD: rs749667892,
|
|
|
|
|
|
ClinVar: RCV000015284, RCV000699988, RCV001797786
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Austrian boy with short stature and metaphyseal dysplasia similar to CHH, but lacking hair anomalies, immunodeficiency, and other extraskeletal features (MDWH; 250460), Bonafe et al. (2002) identified compound heterozygous mutations in the RMRP gene: the common Finnish 70A-G mutation (157660.0001) and a 238C-T transition. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 195C-T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs948931144,
|
|
|
|
|
|
gnomAD: rs948931144,
|
|
|
|
|
|
ClinVar: RCV000015285, RCV000781815, RCV000814860, RCV002223939
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy of Swiss-Danish extraction with short stature and metaphyseal dysplasia similar to CHH, but lacking hair anomalies, immunodeficiency, and other extraskeletal features (MDWH; 250460), Bonafe et al. (2002) identified compound heterozygous mutations in the RMRP gene: a 195C-T transition and a 12-bp duplication (AAGCTGAGGACG) located 2 nucleotides before the transcription initiation site (157660.0011). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 12-BP DUP, NT-2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554651400,
|
|
|
|
|
|
|
|
ClinVar: RCV000015286
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 12-bp duplication in the RMRP gene that was found in compound heterozygous state in patients with metaphyseal dysplasia without hypotrichosis (MDWH; 250460) by Bonafe et al. (2002), see 157660.0010. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 17-BP INS, NT-20
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554651469,
|
|
|
|
|
|
|
|
ClinVar: RCV000015287, RCV000666776, RCV001851869
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Nakashima et al. (2003) described a 7-year-old Japanese girl who had skeletal changes consistent with cartilage-hair hypoplasia but who showed neither hypoplastic hair nor immunodeficiency (MDWH; 250460). Radiography showed brachydactyly with cone-shaped epiphyses in the phalanges of the hands and metaphyseal dysplasia in the long and short tubular bones, especially in the distal femur. Mutation analysis showed compound heterozygosity for mutations in the RMRP gene: a 17-bp insertion (TCTGTGAAGCTGGGGAC) at -20 and a 218A-G transition (157660.0013). The insertion was found on the paternal allele and the nucleotide substitution on the maternal allele. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 218A-G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs936059863,
|
|
|
|
|
|
gnomAD: rs936059863,
|
|
|
|
|
|
ClinVar: RCV000015288, RCV000703896, RCV000781820, RCV002493235
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 218A-G transition in the RMRP gene that was found in compound heterozygous state in a patient with metaphyseal dysplasia without hypotrichosis (MDWH; 250460) by Nakashima et al. (2003), see 157660.0012. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 17-BP DUP, NT3
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs878853178,
|
|
|
|
|
|
|
|
ClinVar: RCV000015289, RCV001384494
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with cartilage-hair hypoplasia (CHH; 250250), Nakashima et al. (2003) identified compound heterozygosity for 2 mutations in the RMRP gene: a 17-bp duplication (GAAGCTGAGGACGTGGT) at +3 inherited from the mother and a de novo 182G-A mutation (157660.0015). Parenthood was confirmed by testing for polymorphic markers. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 182G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1554651153,
|
|
|
|
|
|
|
|
ClinVar: RCV000668988, RCV003488792
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the de novo 182G-A mutation in the RMRP gene that was found in compound heterozygous state in a patient with cartilage-hair hypoplasia (CHH; 250250) by Nakashima et al. (2003), see 157660.0014. Nakashima et al. (2003) stated that the 182G-A mutation was the first de novo mutation in the RMRP gene to be reported. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 1-BP INS, 195T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs796065036,
|
|
|
|
|
|
|
|
ClinVar: RCV000015291, RCV000548629
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kuijpers et al. (2003) described a girl who in the first 2 years of life was thought to have kyphomelic dysplasia (211350) because of her short-limb dwarfism and bowed extremities affecting especially the femurs. At the age of 2 years she developed a combined immunodeficiency and aplastic anemia that responded well to allogeneic bone marrow transplantation, although growth remained extremely retarded. Over 8 years of observation, clinical and radiologic symptoms gradually changed and became more typical for CHH (250250). Compound heterozygosity for 2 novel mutations in the RMRP gene were found: 195insT and 63C-T (157660.0013). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 CARTILAGE-HAIR HYPOPLASIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 63C-T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786204684,
|
|
|
|
|
|
gnomAD: rs786204684,
|
|
|
|
|
|
ClinVar: RCV000169492, RCV000763614, RCV000794299, RCV001725132
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 63C-T transition in the RMRP gene that was found in compound heterozygous state in a patient with cartilage-hair hypoplasia (CHH; 250250) by Kuijpers et al. (2003), see 157660.0016. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 14-BP INS, NT111
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1823615821,
|
|
|
|
|
|
|
|
ClinVar: RCV000015293
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected members of a Jordanian family with anauxetic dysplasia (ANXD1; 607095) reported by Menger et al. (1996), Thiel et al. (2005) found homozygosity for an insertion of 14 nucleotides between nucleotides 111 and 112 of the RMRP cDNA. The parents were consanguineous. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 14G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs902313238,
|
|
|
|
|
|
gnomAD: rs902313238,
|
|
|
|
|
|
ClinVar: RCV000015294, RCV002514102
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the German family with anauxetic dysplasia (ANXD1; 607095) reported by Horn et al. (2001), Thiel et al. (2005) found that both affected members were compound heterozygous for 2 mutations of the RMRP gene: 14G-A and 90_91AG-GC (157660.0020). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, AG-GC, NT90
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906533,
|
|
|
|
|
|
|
|
ClinVar: RCV000015295, RCV003593859, RCV004700239
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with 2 affected children with anauxetic dysplasia (ANXD1; 607095) reported by Horn et al. (2001) and in a single patient (patient 3), Thiel et al. (2005) found the same mutation in the RMRP gene, 90_91AG-GC. The family and the single patient were from the same region of Germany and carried the 90_91AG-GC mutation on the same ancestral haplotype, confirming a founder effect. The mutation occurred in compound heterozygosity in all 3 individuals, with a 14G-A mutation in the family (157660.0019) and with a 254C-G mutation in the single patient (157660.0021). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 254C-G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1170858087,
|
|
|
|
|
|
gnomAD: rs1170858087,
|
|
|
|
|
|
ClinVar: RCV000015296, RCV000667620
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Thiel et al. (2005) found an individual (patient 3) with anauxetic dysplasia (ANXD1; 607095), the offspring of nonconsanguineous parents, to be compound heterozygous for 90_91AG-GC (157660.0020) and 254C-G mutations in the RMRP gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 ANAUXETIC DYSPLASIA 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 10-BP DEL, NT254
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1383432106,
|
|
|
|
|
|
|
|
ClinVar: RCV000015297, RCV000527817, RCV001273824, RCV002497125, RCV003905394
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with anauxetic dysplasia (ANXD1; 607095), Thiel et al. (2007) found compound heterozygosity for a 10-bp null mutation of the RMRP gene (254_263delCTCAGCGCGG) and the transcribed mutation 195C-T (157660.0009), which had previously been described in patients with milder phenotypes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 155G-T
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs752709977,
|
|
|
|
|
|
gnomAD: rs752709977,
|
|
|
|
|
|
ClinVar: RCV000665758, RCV002285169
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Finnish patient with metaphyseal dysplasia without hypotrichosis (MDWH; 250460), Vakkilainen et al. (2020) identified compound heterozygosity for mutations in the RMRP gene, a 155G-T transversion (n.155G-T, NR_003051.3) and a deletion/insertion in the promoter (n.-5delins21, 157660.0024). This patient developed severe agranulocytosis at age 18 years and underwent hematopoietic stem cell transplantation (HSCT). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0024 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
RMRP, 1-BP DEL/21-BP INS, PROMOTER
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV002285035
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the deletion/insertion mutation (n.-5delins21, NR_003051.3) in the RMRP gene that was found in compound heterozygous state in a patient with metaphyseal dysplasia without hypotrichosis (MDWH; 250460) by Vakkilainen et al. (2020), see 157660.0023. </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">
|
|
Bonafe, L., Schmitt, K., Eich, G., Giedion, A., Superti-Furga, A.
|
|
<strong>RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.</strong>
|
|
Clin. Genet. 61: 146-151, 2002.
|
|
|
|
|
|
[PubMed: 11940090]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2002.610210.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chang, D. D., Clayton, D. A.
|
|
<strong>A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication.</strong>
|
|
EMBO J. 6: 409-417, 1987.
|
|
|
|
|
|
[PubMed: 3582365]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/j.1460-2075.1987.tb04770.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clayton, D. A.
|
|
<strong>A big development for a small RNA.</strong>
|
|
Nature 410: 29-31, 2001.
|
|
|
|
|
|
[PubMed: 11242026]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/35065191]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hermanns, P., Bertuch, A. A., Bertin, T. K., Dawson, B., Schmitt, M. E., Shaw, C., Zabel, B., Lee, B.
|
|
<strong>Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.</strong>
|
|
Hum. Molec. Genet. 14: 3723-3740, 2005.
|
|
|
|
|
|
[PubMed: 16254002]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddi403]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hermanns, P., Tran, A., Munivez, E., Carter, S., Zabel, B., Lee, B., Leroy, J. G.
|
|
<strong>RMRP mutations in cartilage-hair hypoplasia.</strong>
|
|
Am. J. Med. Genet. 140A: 2121-2130, 2006.
|
|
|
|
|
|
[PubMed: 16838329]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.31331]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hirose, Y., Nakashima, E., Ohashi, H., Mochizuki, H., Bando, Y., Ogata, T., Adachi, M., Toba, E., Nishimura, G., Ikegawa, S.
|
|
<strong>Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.</strong>
|
|
J. Hum. Genet. 51: 706-710, 2006.
|
|
|
|
|
|
[PubMed: 16832578]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10038-006-0015-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Horn, D., Rupprecht, E., Kunze, J., Spranger, J.
|
|
<strong>Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. (Letter)</strong>
|
|
J. Med. Genet. 38: 262-265, 2001.
|
|
|
|
|
|
[PubMed: 11370632]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.38.4.262]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hsieh, C.-L., Donlon, T. A., Darras, B. T., Chang, D. D., Topper, J. N., Clayton, D. A., Francke, U.
|
|
<strong>The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4.</strong>
|
|
Genomics 6: 540-544, 1990.
|
|
|
|
|
|
[PubMed: 2328993]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(90)90483-b]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hsieh, C.-L., Donlon, T. A., Darras, B. T., Chang, D., Topper, J. N., Clayton, D. A., Francke, U.
|
|
<strong>The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1016 only, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huang, W., Thomas, B., Flynn, R. A., Gavzy, S. J., Wu, L., Kim, S. V., Hall, J. A., Miraldi, E. R., Ng, C. P., Rigo, F., Meadows, S., Montoya, N. R., and 9 others.
|
|
<strong>DDX5 and its associated lncRNA Rmrp modulate T(H)17 cell effector functions.</strong>
|
|
Nature 528: 517-522, 2015. Note: Erratum: Nature 533: 130 only, 2016. Retraction: Nature 562: 150 only, 2018.
|
|
|
|
|
|
[PubMed: 26675721]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature16193]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Klemetti, P., Valta, H., Kostjukovits, S., Taskinen, M., Toiviainen-Salo, S., Makitie, O.
|
|
<strong>Cartilage-hair hypoplasia with normal height in childhood--4 patients with a unique genotype.</strong>
|
|
Clin. Genet. 92: 204-207, 2017.
|
|
|
|
|
|
[PubMed: 28094436]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.12969]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kuijpers, T. W., Ridanpaa, M., Peters, M., de Boer, I., Vossen, J. M. J. J., Pals, S. T., Kaitila, I., Hennekam, R. C. M.
|
|
<strong>Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR (sic) gene.</strong>
|
|
J. Med. Genet. 40: 761-766, 2003.
|
|
|
|
|
|
[PubMed: 14569125]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.40.10.761]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maida, Y., Yasukawa, M., Furuuchi, M., Lassmann, T., Possemato, R., Okamoto, N., Kasim, V., Hayashizaki, Y., Hahn, W. C., Masutomi, K.
|
|
<strong>An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.</strong>
|
|
Nature 461: 230-235, 2009.
|
|
|
|
|
|
[PubMed: 19701182]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature08283]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Menger, H., Mundlos, S., Becker, K., Spranger, J., Zabel, B.
|
|
<strong>An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.</strong>
|
|
Am. J. Med. Genet. 63: 80-83, 1996.
|
|
|
|
|
|
[PubMed: 8723091]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakashima, E., Mabuchi, A., Kashimada, K., Onishi, T., Zhang, J., Ohashi, H., Nishimura, G., Ikegawa, S.
|
|
<strong>RMRP mutations in Japanese patients with cartilage-hair hypoplasia.</strong>
|
|
Am. J. Med. Genet. 123A: 253-256, 2003.
|
|
|
|
|
|
[PubMed: 14608646]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20281]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakashima, E., Tran, J. R., Welting, T. J. M., Pruijn, G. J. M., Hirose, Y., Nishimura, G., Ohashi, H., Schurman, S. H., Cheng, J., Candotti, F., Nagaraja, R., Ikegawa, S., Schlessinger, D.
|
|
<strong>Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.</strong>
|
|
Am. J. Med. Genet. 143A: 2675-2681, 2007.
|
|
|
|
|
|
[PubMed: 17937437]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32053]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ridanpaa, M., Jain, P., McKusick, V. A., Francomano, C. A., Kaitila, I.
|
|
<strong>The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.</strong>
|
|
Am. J. Med. Genet. 121C: 81-83, 2003.
|
|
|
|
|
|
[PubMed: 12888988]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.c.20006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ridanpaa, M., Sistonen, P., Rockas, S., Rimoin, D. L., Makitie, O., Kaitila, I.
|
|
<strong>Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A-G mutation of the untranslated RMRP.</strong>
|
|
Europ. J. Hum. Genet. 10: 439-447, 2002.
|
|
|
|
|
|
[PubMed: 12107819]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200824]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenroojj, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I., de la Chapelle, A.
|
|
<strong>Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.</strong>
|
|
Cell 104: 195-203, 2001.
|
|
|
|
|
|
[PubMed: 11207361]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(01)00205-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ridanpaa, M., Ward, L. M., Rockas, S., Sarkioja, M., Makela, H., Susic, M., Glorieux, F. H., Cole, W. G., Makitie, O.
|
|
<strong>Genetic changes in the RNA components of RNase MRP and RNase in Schmid metaphyseal chondrodysplasia.</strong>
|
|
J. Med. Genet. 40: 741-746, 2003.
|
|
|
|
|
|
[PubMed: 14569119]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.40.10.741]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rogler, L. E., Kosmyna, B., Moskowitz, D., Bebawee, R., Rahimzadeh, J., Kutchko, K., Laederach, A., Notarangelo, L. D., Giliani, S., Bouhassira, E., Frenette, P., Roy-Chowdhury, J., Rogler, C. E.
|
|
<strong>Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.</strong>
|
|
Hum. Molec. Genet. 23: 368-382, 2014.
|
|
|
|
|
|
[PubMed: 24009312]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddt427]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sulisalo, T., Makitie, O., Sistonen, P., Ridanpaa, M., El-Rifai, W., Ruuskanen, O., de la Chapelle, A., Kaitila, I.
|
|
<strong>Uniparental disomy in cartilage-hair hypoplasia.</strong>
|
|
Europ. J. Hum. Genet. 5: 35-42, 1997.
|
|
|
|
|
|
[PubMed: 9156319]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thiel, C. T., Horn, D., Zabel, B., Ekici, A. B., Salinas, K., Gebhart, E., Ruschendorf, F., Sticht, H., Spranger, J., Muller, D., Zweier, C., Schmitt, M. E., Reis, A., Rauch, A.
|
|
<strong>Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.</strong>
|
|
Am. J. Hum. Genet. 77: 795-806, 2005.
|
|
|
|
|
|
[PubMed: 16252239]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/497708]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thiel, C. T., Mortier, G., Kaitila, I., Reis, A., Rauch, A.
|
|
<strong>Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.</strong>
|
|
Am. J. Hum. Genet. 81: 519-529, 2007.
|
|
|
|
|
|
[PubMed: 17701897]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/521034]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Topper, J. N., Clayton, D. A.
|
|
<strong>Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP.</strong>
|
|
Nucleic Acids Res. 18: 793-799, 1990.
|
|
|
|
|
|
[PubMed: 1690392]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/18.4.793]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vakkilainen, S., Costantini, A., Taskinen, M., Wartiovaara-Kautto, U., Makitie, O.
|
|
<strong>'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.</strong>
|
|
J. Med. Genet 57: 18-22, 2020.
|
|
|
|
|
|
[PubMed: 31413121]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2019-106131]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Williams, M. S., Ettinger, R. S., Hermanns, P., Lee, B., Carlsson, G., Taskinen, M., Makitie, O.
|
|
<strong>The natural history of severe anemia in cartilage-hair hypoplasia.</strong>
|
|
Am. J. Med. Genet. 138A: 35-40, 2005.
|
|
|
|
|
|
[PubMed: 16097009]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30902]
|
|
|
|
|
|
</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">
|
|
Sonja A. Rasmussen - updated : 09/21/2022<br>Sonja A. Rasmussen - updated : 07/27/2022<br>Sonja A. Rasmussen - updated : 06/17/2019<br>Patricia A. Hartz - updated : 10/28/2016<br>Paul J. Converse - updated : 08/19/2016<br>Ada Hamosh - updated : 10/13/2009<br>Marla J. F. O'Neill - updated : 8/5/2009<br>George E. Tiller - updated : 4/23/2009<br>Victor A. McKusick - updated : 8/16/2007<br>Victor A. McKusick - updated : 6/18/2007<br>Marla J. F. O'Neill - updated : 10/24/2006<br>Victor A. McKusick - updated : 10/12/2005<br>Victor A. McKusick - updated : 2/12/2004<br>Victor A. McKusick - updated : 1/5/2004<br>Victor A. McKusick - updated : 8/21/2003<br>Victor A. McKusick - updated : 9/3/2002<br>Victor A. McKusick - updated : 5/10/2002<br>Victor A. McKusick - updated : 3/2/2001<br>Stylianos E. Antonarakis - updated : 1/29/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/1/1989
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 09/21/2022<br>alopez : 07/27/2022<br>carol : 06/18/2019<br>carol : 06/17/2019<br>carol : 06/17/2019<br>carol : 04/22/2019<br>carol : 08/25/2017<br>alopez : 03/21/2017<br>carol : 03/09/2017<br>carol : 03/09/2017<br>mgross : 10/28/2016<br>mgross : 08/19/2016<br>mgross : 08/19/2016<br>carol : 03/20/2015<br>mcolton : 3/20/2015<br>alopez : 1/22/2015<br>carol : 4/16/2014<br>alopez : 10/21/2009<br>terry : 10/13/2009<br>wwang : 9/1/2009<br>terry : 8/5/2009<br>wwang : 6/30/2009<br>terry : 4/23/2009<br>alopez : 8/23/2007<br>terry : 8/16/2007<br>alopez : 6/19/2007<br>terry : 6/18/2007<br>carol : 6/13/2007<br>carol : 6/13/2007<br>wwang : 10/25/2006<br>terry : 10/24/2006<br>alopez : 10/13/2005<br>terry : 10/12/2005<br>tkritzer : 12/9/2004<br>mgross : 3/8/2004<br>carol : 2/12/2004<br>carol : 2/12/2004<br>carol : 1/20/2004<br>carol : 1/14/2004<br>cwells : 1/5/2004<br>tkritzer : 8/25/2003<br>terry : 8/21/2003<br>tkritzer : 3/31/2003<br>tkritzer : 3/28/2003<br>terry : 3/26/2003<br>cwells : 9/4/2002<br>terry : 9/3/2002<br>alopez : 5/28/2002<br>terry : 5/10/2002<br>cwells : 3/7/2001<br>terry : 3/2/2001<br>mgross : 1/29/2001<br>mgross : 1/29/2001<br>dkim : 12/15/1998<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 3/1/1990<br>carol : 12/12/1989<br>ddp : 10/27/1989<br>root : 9/23/1989
|
|
</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>
|
|
|
|
|