4550 lines
367 KiB
Text
4550 lines
367 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
|
|
|
|
- *605270 - N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
|
|
|
|
|
|
- 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=605270"><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">*605270</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cloning">Cloning and Expression</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneStructure">Gene Structure</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/605270">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=ENSG00000181523;t=ENST00000326317" 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=6448" 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=605270" 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=ENSG00000181523;t=ENST00000326317" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000199,NM_001352921,NM_001352922,NR_148201,XM_011525126,XR_001752585,XR_001752590,XR_007065401,XR_007065402,XR_007065403,XR_007065404,XR_007065405,XR_007065406,XR_007065407,XR_007065408,XR_007065409,XR_007065410,XR_007065411,XR_007065412,XR_007065413,XR_007065414,XR_007065415,XR_007065416,XR_007065417,XR_007065418,XR_007065419,XR_007065420,XR_007065421,XR_007065422,XR_007065423,XR_007065424,XR_934532" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000199" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=605270" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://hprd.org/summary?hprd_id=05590&isoform_id=05590_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.proteinatlas.org/search/SGSH" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/protein/1173543,1655845,1711493,4506919,28703787,62089386,62897339,119609996,119609997,158255950,193788285,221045130,767995604,1209857039,1209857043,1240148477,1240148479,2462556964" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.uniprot.org/uniprotkb/P51688" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Gene Info</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="http://biogps.org/#goto=genereport&id=6448" 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=ENSG00000181523;t=ENST00000326317" 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=SGSH" 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=SGSH" 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+6448" 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/SGSH" 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:6448" 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/6448" 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=chr17&hgg_gene=ENST00000326317.11&hgg_start=80200673&hgg_end=80220333&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:10818" 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:10818" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/gene/sgsh" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605270[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=605270[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/SGSH/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/ENSG00000181523" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ebi.ac.uk/gwas/search?query=SGSH" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.gwascentral.org/search?q=SGSH" 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=SGSH" 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=SGSH&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/PA35726" 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:10818" 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://flybase.org/reports/FBgn0038660.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mousephenotype.org/data/genes/MGI:1350341" 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/SGSH#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:1350341" 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/6448/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://omia.org/OMIA001309/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=6448" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-030131-4958" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="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:605270" 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:6448" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://reactome.org/content/query?q=SGSH&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 41572006<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> E76.22<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>
|
|
605270
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
|
|
|
|
</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">
|
|
HEPARAN SULFATE SULFATASE; HSS<br />
|
|
SULFAMIDASE
|
|
</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=SGSH" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SGSH</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/17/1017?start=-3&limit=10&highlight=1017">17q25.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:80200673-80220333&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'})">17:80,200,673-80,220,333</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/1017?start=-3&limit=10&highlight=1017">
|
|
17q25.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Mucopolysaccharidosis type IIIA (Sanfilippo A)
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/252900"> 252900 </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/605270" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605270" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#19" class="mim-tip-reference" title="Scott, H. S., Blanch, L., Guo, X.-H., Freeman, C., Orsborn, A., Baker, E., Sutherland, G. R., Morris, C. P., Hopwood, J. J. <strong>Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.</strong> Nature Genet. 11: 465-467, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493035</a>] [<a href="https://doi.org/10.1038/ng1295-465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493035">Scott et al. (1995)</a> reported the isolation, sequence, and expression of cDNA clones encoding N-sulfoglucosamine sulfohydrolase, the enzyme deficient in mucopolysaccharidosis IIIA (MPS3A; <a href="/entry/252900">252900</a>), also known as Sanfilippo syndrome A. By micropeptide sequence analysis, followed by screening of a cDNA kidney library, they isolated a cDNA encoding a 502-amino acid sulfamidase protein. Sequence analysis predicted that the 482-amino acid mature protein contains 5 potential N-glycosylation sites. Northern blot analysis revealed expression of 3.1-, 4.3-, and 7.1-kb transcripts that are variably expressed in all tissues except brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493035" 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 SDS-PAGE analysis, <a href="#2" class="mim-tip-reference" title="Bielicki, J., Hopwood, J. J., Melville, E. L., Anson, D. S. <strong>Recombinant human sulphamidase: expression, amplification, purification and characterization.</strong> Biochem. J. 329: 145-150, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9405287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9405287</a>] [<a href="https://doi.org/10.1042/bj3290145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9405287">Bielicki et al. (1998)</a> determined that recombinant and native sulfamidase is expressed in CHO cells as a 115-kD dimer with an approximately 63-kD major subunit and an approximately 57-kD minor subunit with identical N-terminal residues after cleavage of the leader peptide. Kinetic analysis showed that the recombinant enzyme has similar parameters to the native type and is endocytosed by MPS IIIA fibroblasts via the mannose 6-phosphate receptor (see <a href="/entry/154540">154540</a>), suggesting that the recombinant sulfamidase may be a suitable candidate for enzyme replacement therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9405287" 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="Costanzi, E., Beccari, T., Stinchi, S., Bibi, L., Hopwood, J. J., Orlacchio, A. <strong>Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.</strong> Mammalian Genome 11: 436-439, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10818207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10818207</a>] [<a href="https://doi.org/10.1007/s003350010083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10818207">Costanzi et al. (2000)</a> isolated and sequenced the mouse Sgsh gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10818207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneStructure" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#13" class="mim-tip-reference" title="Karageorgos, L. E., Guo, X.-H., Blanch, L., Weber, B., Anson, D. S., Scott, H. S., Hopwood, J. J. <strong>Structure and sequence of the human sulphamidase gene.</strong> DNA Res. 3: 269-271, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946167</a>] [<a href="https://doi.org/10.1093/dnares/3.4.269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8946167">Karageorgos et al. (1996)</a> determined the structure of the SGSH gene and the sequence of the exon/intron boundaries and the 5-prime promoter region. The gene contains 8 exons spanning approximately 11 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8946167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#13" class="mim-tip-reference" title="Karageorgos, L. E., Guo, X.-H., Blanch, L., Weber, B., Anson, D. S., Scott, H. S., Hopwood, J. J. <strong>Structure and sequence of the human sulphamidase gene.</strong> DNA Res. 3: 269-271, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946167</a>] [<a href="https://doi.org/10.1093/dnares/3.4.269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8946167">Karageorgos et al. (1996)</a> isolated a genomic clone containing the entire sulfamidase gene from a chromosome 17-specific gridded cosmid library. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8946167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By fluorescence in situ hybridization, <a href="#19" class="mim-tip-reference" title="Scott, H. S., Blanch, L., Guo, X.-H., Freeman, C., Orsborn, A., Baker, E., Sutherland, G. R., Morris, C. P., Hopwood, J. J. <strong>Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.</strong> Nature Genet. 11: 465-467, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493035</a>] [<a href="https://doi.org/10.1038/ng1295-465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493035">Scott et al. (1995)</a> mapped the sulfamidase gene to 17q25, with 17q25.3 as the most likely localization. They suggested that a (1;21) balanced translocation reported by <a href="#17" class="mim-tip-reference" title="Rodewald, A., Cleve, H., Stengel-Rutkowski, S., Wirtz, A., Murken, J. D., DiValerio, M., Mulivor, R. A., Greene, A. E., Coriell, L. L. <strong>A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA: repository identification No. GM1881.</strong> Cytogenet. Cell Genet. 27: 267, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6777119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6777119</a>] [<a href="https://doi.org/10.1159/000131495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6777119">Rodewald et al. (1980)</a> in a patient with MPS IIIA was an incidental finding. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6777119+7493035" 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="Costanzi, E., Beccari, T., Stinchi, S., Bibi, L., Hopwood, J. J., Orlacchio, A. <strong>Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.</strong> Mammalian Genome 11: 436-439, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10818207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10818207</a>] [<a href="https://doi.org/10.1007/s003350010083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10818207">Costanzi et al. (2000)</a> found that the mouse Sgsh gene maps to the distal end of chromosome 11, in a region that is homologous with a segment of human chromosome 17 containing the orthologous human gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10818207" 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>In 2 unrelated patients with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), also known as Sanfilippo syndrome A, <a href="#19" class="mim-tip-reference" title="Scott, H. S., Blanch, L., Guo, X.-H., Freeman, C., Orsborn, A., Baker, E., Sutherland, G. R., Morris, C. P., Hopwood, J. J. <strong>Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.</strong> Nature Genet. 11: 465-467, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493035</a>] [<a href="https://doi.org/10.1038/ng1295-465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493035">Scott et al. (1995)</a> identified an 11-bp deletion in sulfamidase cDNA (<a href="#0008">605270.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493035" 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="Blanch, L., Weber, B., Guo, X.-H., Scott, H. S., Hopwood, J. J. <strong>Molecular defects in Sanfilippo syndrome type A.</strong> Hum. Molec. Genet. 6: 787-791, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158154</a>] [<a href="https://doi.org/10.1093/hmg/6.5.787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9158154">Blanch et al. (1997)</a> investigated molecular defects in the sulfamidase gene in 10 patients with MPS3A of Australian and American origin. The entire coding region of the gene was RT-PCR amplified and 1 polymorphism, 4 novel mutations (S66W, <a href="#0003">605270.0003</a>; R245H, <a href="#0001">605270.0001</a>; E447K, <a href="#0006">605270.0006</a>; and 1307del9, <a href="#0007">605270.0007</a>), and 1 previously described mutation (1284del11, <a href="#0008">605270.0008</a>) were identified by PCR sequencing. R245H was present in 6 patients, including 1 severely affected homozygote. In 3 of the other patients with R245H, second mutant alleles were identified as S66W, 1284del11, and E447K. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158154" 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 mutation screen of 42 European patients with MPS3, <a href="#4" class="mim-tip-reference" title="Bunge, S., Ince, H., Steglich, C., Kleijer, W. J., Beck, M., Zaremba, J., van Diggelen, O. P., Weber, B., Hopwood, J. J., Gal, A. <strong>Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).</strong> Hum. Mutat. 10: 479-485, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401012</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9401012">Bunge et al. (1997)</a> identified 17 different mutations, of which 16 were novel. A missense mutation (R74C; <a href="#0002">605270.0002</a>) that altered an evolutionarily conserved amino acid in the active site of the sulfamidase enzyme was found on 56% of alleles of 16 Polish patients, whereas it was less frequent (21% of disease alleles) among German patients. R245H, a common mutation reported by <a href="#3" class="mim-tip-reference" title="Blanch, L., Weber, B., Guo, X.-H., Scott, H. S., Hopwood, J. J. <strong>Molecular defects in Sanfilippo syndrome type A.</strong> Hum. Molec. Genet. 6: 787-791, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158154</a>] [<a href="https://doi.org/10.1093/hmg/6.5.787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9158154">Blanch et al. (1997)</a>, represented 35% of disease alleles in German patients, but only 3% in Polish patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9158154+9401012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Di Natale, P., Balzano, N., Esposito, S., Villani, G. R. D. <strong>Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.</strong> Hum. Mutat. 11: 313-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9554748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9554748</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9554748">Di Natale et al. (1998)</a> characterized 38 (79%) pathogenic alleles in 24 Italian MPS IIIA patients. They identified 16 different molecular defects, of which 13 were novel. Most were missense mutations. Two single basepair deletions and a basepair insertion were also identified. The previously identified S66W substitution (<a href="#0003">605270.0003</a>) represented the most common alteration, accounting for 33% of total alleles. All 6 patients from Sardinia had this mutation and 5 of them were homozygous for the change, suggesting that these patients may share a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9554748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Esposito, S., Balzano, N., Daniele, A., Villani, G. R. D., Perkins, K., Weber, B., Hopwood, J. J., Di Natale, P. <strong>Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.</strong> Biochim. Biophys. Acta 1501: 1-11, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10727844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10727844</a>] [<a href="https://doi.org/10.1016/s0925-4439(99)00118-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10727844">Esposito et al. (2000)</a> reported 2 novel mutations and stated that approximately 40 mutations of the heparan N-sulfatase gene leading to MPS IIIA had been described. In expression studies of 15 of the mutations, none yielded active enzyme. Western blot analysis and metabolic labeling experiments revealed, for cells transfected with wildtype enzyme, a precursor 62-kD form and a mature 56-kD form. For 11 of the 15 mutations, Western blot analysis resulted in the demonstration of both forms, indicating a normal maturation of the mutant enzyme. For the other 4 mutations, studies indicated increased degradation of the mutant enzymes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10727844" 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="#23" class="mim-tip-reference" title="Yogalingam, G., Hopwood, J. J. <strong>Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications.</strong> Hum. Mutat. 18: 264-281, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668611</a>] [<a href="https://doi.org/10.1002/humu.1189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11668611">Yogalingam and Hopwood (2001)</a> reported that 62 mutations in the SGSH gene causing MPS IIIA had been defined: 46 missense/nonsense mutations, 15 small insertions/deletions, and 1 splice site mutation. Most of the mutations identified in SGSH, and in NAGLU (<a href="/entry/609701">609701</a>) in MPS IIIB (<a href="/entry/252920">252920</a>), are associated with severe clinical phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Chinese patients with MPS IIIA, <a href="#14" class="mim-tip-reference" title="Lee-Chen, G. J., Lin, S. P., Ko, M. H., Chuang, C. K., Chen, C. P., Lee, H. H., Cheng, S. C., Shen, C. H., Tseng, K. L., Li, C. L. <strong>Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).</strong> Clin. Genet. 61: 192-197, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12000360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12000360</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610304.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12000360">Lee-Chen et al. (2002)</a> identified 4 missense mutations (both were compound heterozygotes) and 5 polymorphisms in the SGSH gene. The polymorphic haplotype of the SGSH gene was analyzed in 52 unrelated subjects. All 5 polymorphisms were in Hardy-Weinberg equilibrium. The strong nonrandom association among the 5 polymorphisms suggested that there is little or no recombination in the SGSH gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12000360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Di Natale, P., Villani, G. R. D., Di Domenico, C., Daniele, A., Dionisi Vici, C., Bartuli, A. <strong>Analysis of Sanfilippo A gene mutations in a large pedigree.</strong> Clin. Genet. 63: 314-318, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12702166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12702166</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00053.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12702166">Di Natale et al. (2003)</a> described a large pedigree in which 2 second cousins had Sanfilippo syndrome A caused by mutations in the SGSH gene: 1 cousin, with severe disease, was a compound heterozygote for the mutations glu369 to lys (E369K; <a href="#0009">605270.0009</a>) and arg433 to gln (R433Q; <a href="#0010">605270.0010</a>); the other, with a mild form of the disorder, was a compound heterozygote for the mutations E369K and pro128 to leu (P128L; <a href="#0011">605270.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12702166" 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="Gabrielli, O., Coppa, G. V., Bruni, S., Villani, G. R. D., Pontarelli, G., Di Natale, P. <strong>An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.</strong> Am. J. Med. Genet. 133A: 85-89, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637719</a>] [<a href="https://doi.org/10.1002/ajmg.a.30552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15637719">Gabrielli et al. (2005)</a> reported an Italian woman with a mild form of Sanfilippo syndrome A caused by a homozygous mutation in the SGSH gene (R206P; <a href="#0012">605270.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637719" 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="#21" class="mim-tip-reference" title="Valstar, M. J., Neijs, S., Bruggenwirth, H. T., Olmer, R., Ruijter, G. J. G., Wevers, R. A., van Diggelen, O. P., Poorthuis, B. J., Halley, D. J., Wijburg, F. A. <strong>Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.</strong> Ann. Neurol. 68: 876-887, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21061399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21061399</a>] [<a href="https://doi.org/10.1002/ana.22092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21061399">Valstar et al. (2010)</a> retrospectively reviewed the clinical features of 92 patients with MPS IIIA, including 32 living and 60 deceased individuals. There was wide phenotypic variability that correlated with genotype. In particular, those with 1 or more S298P (<a href="#0013">605270.0013</a>) mutant alleles had an attenuated phenotype, with a significantly longer preservation of psychomotor functions and a longer survival. The most frequent pathogenic mutations were R245H (<a href="#0001">605270.0001</a>), Q380R, S66W (<a href="#0003">605270.0003</a>), and 1080delC, all of which were associated with the classic severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21061399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#1" class="mim-tip-reference" title="Bhattacharyya, R., Gliddon, B., Beccari, T., Hopwood, J. J., Stanley, P. <strong>A novel missense mutation in lysosomal sulfamidase is the basis of MPS IIIA in a spontaneous mouse mutant.</strong> Glycobiology 11: 99-103, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181566</a>] [<a href="https://doi.org/10.1093/glycob/11.1.99" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11181566">Bhattacharyya et al. (2001)</a> described a spontaneous mouse mutant of MPS IIIa resulting from a homozygous asp31-to-asn (D31N) mutation in the murine sulfatase gene. Affected mice died at about 10 months of age exhibiting a distended bladder and hepatosplenomegaly. Brain sections show distended lysosomes, some with typical zebra body morphology, and many containing periodic acid-Schiff-positive storage material. Urinalysis revealed an accumulation of heparan sulfate. Assays of a variety of lysosomal hydrolases in brain, liver, and kidney extracts uncovered a specific defect in sulfamidase activity, which was reduced by about 97%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11181566" 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="Saville, J. T., Fuller, M. <strong>Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.</strong> Molec. Genet. Metab. 129: 111-116, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31494022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31494022</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.08.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31494022">Saville and Fuller (2020)</a> studied lipid content in the brains of a naturally occurring mouse model of MPS IIIA at 1 and 6 months of age. Heparin sulfate (HS) disaccharide levels were increased in the mutant mice compared to controls across all 4 brain regions that were evaluated (brainstem, cortex, cerebellum and subcortex) at 1 month of age. At 6 months of age, HS disaccharide levels were increased in the cortex and subcortex regions compared to mutant mice at 1 month of age, but levels in the cerebellum were unchanged. There was a significantly higher level of GM2 gangliosides in the mutant mice compared to controls at 1 month of age in all brain regions except the cortex, and the level was highest in the brainstem. At 6 months of age, GM2 levels were increased in all brain regions compared to controls and 1-month-old mutant mice. GM3 levels were elevated in the brainstem and subcortex of 1-month-old mutant mice compared to controls. At 6 months of age, GM3 levels were significantly elevated in all brain regions compared to both 1-month-old mutant mice and controls. <a href="#18" class="mim-tip-reference" title="Saville, J. T., Fuller, M. <strong>Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.</strong> Molec. Genet. Metab. 129: 111-116, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31494022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31494022</a>] [<a href="https://doi.org/10.1016/j.ymgme.2019.08.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31494022">Saville and Fuller (2020)</a> concluded that alterations in ganglioside metabolism and sphingolipid metabolism differed by age and brain region in the naturally occurring mouse model of MPS IIIA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31494022" 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 mouse model of MPS IIIA, <a href="#12" class="mim-tip-reference" title="Intartaglia, D., Giamundo, G., Marrocco, E., Maffia, V., Salierno, F. G., Nusco, E., Fraldi, A., Conte, I., Sorrentino, N. C. <strong>Retinal degeneration in MPS-IIIA mouse model.</strong> Front. Cell Dev. Biol. 8: 132, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32195255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32195255</a>] [<a href="https://doi.org/10.3389/fcell.2020.00132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32195255">Intartaglia et al. (2020)</a> demonstrated progressive decrease of retinal function with a gradual loss of cones starting at 3 months of age and culminating in severe retinal dysfunction at 9 months of age. This was accompanied by an inflammatory microglial cell response and increased apoptotic cell death in the retinal outer nerve layer by 9 months of age. <a href="#12" class="mim-tip-reference" title="Intartaglia, D., Giamundo, G., Marrocco, E., Maffia, V., Salierno, F. G., Nusco, E., Fraldi, A., Conte, I., Sorrentino, N. C. <strong>Retinal degeneration in MPS-IIIA mouse model.</strong> Front. Cell Dev. Biol. 8: 132, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32195255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32195255</a>] [<a href="https://doi.org/10.3389/fcell.2020.00132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32195255">Intartaglia et al. (2020)</a> also found increased heparan sulfate in the retinal cells correlating to a block in lysosomal-autophagosomal fusion and consistent with defective autophagy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32195255" 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="Tillo, M., Lamanna, W. C., Dwyer, C. A., Sandoval, D. R., Pessentheiner, A. R., Al-Azzam, N., Sarrazin, S., Gonzales, J. C., Kan, S. H., Andreyev, A. Y., Schultheis, N., Thacker, B. E., Glass, C. A., Dickson, P. I., Wang, R. Y., Selleck, S. B., Esko, J. D., Gordts, P. L. S. M. <strong>Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation.</strong> J. Biol. Chem. 298: 102159, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35750212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35750212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35750212[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.jbc.2022.102159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35750212">Tillo et al. (2022)</a> investigated the etiology of cachexia in a mouse model of MPS IIIA. The mutant mice had increased intestinal uptake of dietary triglyceride (triolein) and fasting and postprandial hypertriglyceridemia compared to wildtype mice. This correlated to increased uptake of triolein into brown adipose tissue, followed by hyperthermia, increased eating and drinking, and increased energy expenditure. Mutant mice who were treated with a lipolytic inhibitor were cold intolerant, suggesting that they were unable to generate energy from endogenous stored lipids and were instead reliant on exogenous lipids for fuel. The brown adipose tissue in the mutant mice also had increased mitochondrial content resulting from abnormal lysosomal-autophagosome fusion, and <a href="#20" class="mim-tip-reference" title="Tillo, M., Lamanna, W. C., Dwyer, C. A., Sandoval, D. R., Pessentheiner, A. R., Al-Azzam, N., Sarrazin, S., Gonzales, J. C., Kan, S. H., Andreyev, A. Y., Schultheis, N., Thacker, B. E., Glass, C. A., Dickson, P. I., Wang, R. Y., Selleck, S. B., Esko, J. D., Gordts, P. L. S. M. <strong>Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation.</strong> J. Biol. Chem. 298: 102159, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35750212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35750212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35750212[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.jbc.2022.102159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35750212">Tillo et al. (2022)</a> hypothesized that this impaired autophagy led to increased energy expenditure in brown adipose tissue. Postprandial hypertriglyceridemia was ameliorated by enzyme replacement therapy with sulfamidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35750212" 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>13 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/605270" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605270[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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, ARG245HIS
|
|
</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> rs104894635 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894635;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/rs104894635?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=rs104894635" 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=rs104894635" 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=RCV000005414 OR RCV000078356 OR RCV000348775 OR RCV000623663 OR RCV001030817 OR RCV001837434 OR RCV003415657" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005414, RCV000078356, RCV000348775, RCV000623663, RCV001030817, RCV001837434, RCV003415657" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005414...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 of 10 Australian and American patients with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), also known as Sanfilippo syndrome A, <a href="#3" class="mim-tip-reference" title="Blanch, L., Weber, B., Guo, X.-H., Scott, H. S., Hopwood, J. J. <strong>Molecular defects in Sanfilippo syndrome type A.</strong> Hum. Molec. Genet. 6: 787-791, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158154</a>] [<a href="https://doi.org/10.1093/hmg/6.5.787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9158154">Blanch et al. (1997)</a> demonstrated that at least 1 allele of the sulfamidase gene carried a G-to-A transition at nucleotide position 746, changing arginine-245 to a histidine (R245H). This missense mutation was present in 7 of 20 alleles from the 6 patients, including 1 patient homozygous for R245H. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158154" 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 the Netherlands, <a href="#22" class="mim-tip-reference" title="Weber, B., van de Kamp, J. J. P., Kleijer, W. J., Guo, X.-H., Blanch, L., van Diggelen, O. P., Wevers, R., Poorthuis, B. J. H. M., Hopwood, J. J. <strong>Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands.</strong> J. Inherit. Metab. Dis. 21: 416-422, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700599</a>] [<a href="https://doi.org/10.1023/a:1005362826552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9700599">Weber et al. (1998)</a> found that the R245H mutation accounted for 56.7% of the Sanfilippo A alleles. The R245H allele had a higher prevalence in western than in eastern regions of the Netherlands. Of 39 MPS III patients, for whom they had uniform clinical data, 13 patients who were homozygous for this common mutation had a more uniform but severe clinical phenotype than the remaining 21 or 5 patients, with, respectively, 1 or no R245H alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700599" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, ARG74CYS
|
|
</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> rs104894636 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894636;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/rs104894636?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=rs104894636" 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=rs104894636" 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=RCV000005415 OR RCV000078354 OR RCV000626628 OR RCV001030813" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005415, RCV000078354, RCV000626628, RCV001030813" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005415...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#4" class="mim-tip-reference" title="Bunge, S., Ince, H., Steglich, C., Kleijer, W. J., Beck, M., Zaremba, J., van Diggelen, O. P., Weber, B., Hopwood, J. J., Gal, A. <strong>Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).</strong> Hum. Mutat. 10: 479-485, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401012</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9401012">Bunge et al. (1997)</a> found that the missense mutation arg74-to-cys (R74C), which alters an evolutionarily conserved amino acid in the active site of the sulfamidase enzyme, was present in 56% of SGSH alleles of 16 Polish patients with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), whereas it was less frequent (21% of disease alleles) among German patients. The R245H mutation (<a href="#0001">605270.0001</a>) represented 35% of disease alleles in German patients, but only 3% in Polish patients. Because the combined frequency of the common mutations R74C and R245H in German and Polish populations exceeded 55%, <a href="#4" class="mim-tip-reference" title="Bunge, S., Ince, H., Steglich, C., Kleijer, W. J., Beck, M., Zaremba, J., van Diggelen, O. P., Weber, B., Hopwood, J. J., Gal, A. <strong>Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).</strong> Hum. Mutat. 10: 479-485, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401012</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9401012">Bunge et al. (1997)</a> suggested that screenings for these 2 mutations would assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9401012" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, SER66TRP
|
|
</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> rs104894637 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894637;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/rs104894637?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=rs104894637" 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=rs104894637" 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=RCV000005418 OR RCV000255782 OR RCV000586103 OR RCV001030815 OR RCV002512807 OR RCV003934800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005418, RCV000255782, RCV000586103, RCV001030815, RCV002512807, RCV003934800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005418...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Among 24 Italian mucopolysaccharidosis IIIA (MPS3A; <a href="/entry/252900">252900</a>) patients, <a href="#7" class="mim-tip-reference" title="Di Natale, P., Balzano, N., Esposito, S., Villani, G. R. D. <strong>Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.</strong> Hum. Mutat. 11: 313-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9554748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9554748</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9554748">Di Natale et al. (1998)</a> identified a ser66-to-trp (S66W) missense mutation in the SGSH gene, accounting for 33% of all mutant alleles. All 6 patients from Sardinia had this mutation and 5 of them were homozygous for the change, suggesting that they may share a common ancestor. <a href="#16" class="mim-tip-reference" title="Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M. J., Chabas, A., Grinberg, D. <strong>Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.</strong> Hum. Mutat. 12: 274-279, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9744479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9744479</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9744479">Montfort et al. (1998)</a> found the S66W mutation in exon 2 in compound heterozygous state in a Spanish patient with Sanfilippo syndrome A. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9744479+9554748" 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="#9" class="mim-tip-reference" title="Di Natale, P., Villani, G. R. D., Esposito, S., Balzano, N., Filocamo, M., Gatti, R. <strong>Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele. (Letter)</strong> Prenatal Diag. 19: 993-994, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521831</a>] [<a href="https://doi.org/10.1002/(sici)1097-0223(199910)19:10<993::aid-pd661>3.0.co;2-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521831">Di Natale et al. (1999)</a> reported the prenatal diagnosis of Sanfilippo syndrome A by study of chorionic villi in the 11-week-old fetus of a woman who was homozygous for the S66W mutation. Because of the findings, the pregnancy was terminated at 12 weeks' gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521831" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, 1-BP DEL, 1091C
|
|
</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> rs770947426 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770947426;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/rs770947426?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=rs770947426" 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=rs770947426" 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=RCV000606285 OR RCV000986195 OR RCV001030816" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000606285, RCV000986195, RCV001030816" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000606285...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#16" class="mim-tip-reference" title="Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M. J., Chabas, A., Grinberg, D. <strong>Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.</strong> Hum. Mutat. 12: 274-279, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9744479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9744479</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9744479">Montfort et al. (1998)</a> presented mutation analysis and clinical findings in 11 Spanish patients with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>) in whom 19 of the 22 mutant alleles had been identified. Seven different mutations were found, of which 4 had not previously been described. The most frequent mutation was a 1-bp deletion (C) at nucleotide 1091 which accounted for nearly one-half of the mutated alleles. It was present in homozygous state in 3 patients and in compound heterozygous state in 3 patients. Mutations R74C (<a href="#0002">605270.0002</a>) and R245H (<a href="#0001">605270.0001</a>) were not found in this study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9744479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study in Barcelona, <a href="#5" class="mim-tip-reference" title="Chabas, A., Montfort, M., Martinez-Campos, M., Diaz, A., Coll, M. J., Grinberg, D., Vilageliu, L. <strong>Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.</strong> Am. J. Med. Genet. 100: 223-228, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343308</a>] [<a href="https://doi.org/10.1002/ajmg.1248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343308">Chabas et al. (2001)</a> found that chromosomes bearing the 1091delC mutation showed a conserved haplotype, suggesting a common origin for this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343308" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, ARG150GLN
|
|
</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> rs104894638 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894638;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/rs104894638?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=rs104894638" 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=rs104894638" 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=RCV000005420 OR RCV004755712" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005420, RCV004755712" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005420...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Spanish patient with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), <a href="#16" class="mim-tip-reference" title="Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M. J., Chabas, A., Grinberg, D. <strong>Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.</strong> Hum. Mutat. 12: 274-279, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9744479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9744479</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9744479">Montfort et al. (1998)</a> found an arg150-to-glu (R150Q) mutation in exon 4 of the SGSH gene. The same mutation had previously been identified by <a href="#7" class="mim-tip-reference" title="Di Natale, P., Balzano, N., Esposito, S., Villani, G. R. D. <strong>Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.</strong> Hum. Mutat. 11: 313-320, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9554748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9554748</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9554748">Di Natale et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9744479+9554748" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, GLU447LYS
|
|
</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> rs104894639 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894639;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/rs104894639?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=rs104894639" 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=rs104894639" 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=RCV000005421 OR RCV000413635 OR RCV000624626" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005421, RCV000413635, RCV000624626" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005421...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), <a href="#3" class="mim-tip-reference" title="Blanch, L., Weber, B., Guo, X.-H., Scott, H. S., Hopwood, J. J. <strong>Molecular defects in Sanfilippo syndrome type A.</strong> Hum. Molec. Genet. 6: 787-791, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158154</a>] [<a href="https://doi.org/10.1093/hmg/6.5.787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9158154">Blanch et al. (1997)</a> found a G-to-A transition at nucleotide 1351 of the SGSH gene, which resulted in a glu447-to-lys (E447K) amino acid substitution. They found this mutation in compound heterozygosity with the R245H mutation (<a href="#0001">605270.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158154" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, 9-BP DEL, NT1307
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1567914835 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1567914835;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=rs1567914835" 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=rs1567914835" 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=RCV001931104 OR RCV004762253" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001931104, RCV004762253" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001931104...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), <a href="#3" class="mim-tip-reference" title="Blanch, L., Weber, B., Guo, X.-H., Scott, H. S., Hopwood, J. J. <strong>Molecular defects in Sanfilippo syndrome type A.</strong> Hum. Molec. Genet. 6: 787-791, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158154</a>] [<a href="https://doi.org/10.1093/hmg/6.5.787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9158154">Blanch et al. (1997)</a> found a 9-bp deletion of the SGSH gene, beginning at nucleotide 1307. This deletion resulted in the last 2 bases of codon 432 being changed from AC to GC, leading to a tyrosine-to-tryptophan substitution (Y432W). Additionally, the next 3 amino acids (arg433, ala434, and arg435) were deleted before restoration of the normal reading frame at trp436. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158154" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, 11-BP DEL, NT1284
|
|
</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> rs752914124 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752914124;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/rs752914124?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=rs752914124" 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=rs752914124" 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=RCV000295921 OR RCV000484018 OR RCV001003994 OR RCV004955382" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000295921, RCV000484018, RCV001003994, RCV004955382" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000295921...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), <a href="#3" class="mim-tip-reference" title="Blanch, L., Weber, B., Guo, X.-H., Scott, H. S., Hopwood, J. J. <strong>Molecular defects in Sanfilippo syndrome type A.</strong> Hum. Molec. Genet. 6: 787-791, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158154</a>] [<a href="https://doi.org/10.1093/hmg/6.5.787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9158154">Blanch et al. (1997)</a> found an 11-bp deletion of the SGSH gene, beginning at nucleotide 1284. This deletion resulted in a change of the last base of codon 424 from C to G, altering the original tyrosine to a stop codon and leading to a 78-amino acid shortened sulfamidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Scott, H. S., Blanch, L., Guo, X.-H., Freeman, C., Orsborn, A., Baker, E., Sutherland, G. R., Morris, C. P., Hopwood, J. J. <strong>Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.</strong> Nature Genet. 11: 465-467, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493035</a>] [<a href="https://doi.org/10.1038/ng1295-465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493035">Scott et al. (1995)</a> identified this mutation in sulfamidase cDNA from 2 unrelated patients with Sanfilippo syndrome A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493035" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, GLU369LYS
|
|
</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> rs104894640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894640;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/rs104894640?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=rs104894640" 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=rs104894640" 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=RCV000005424 OR RCV000078349 OR RCV003894791" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005424, RCV000078349, RCV003894791" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005424...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 second cousins from a large family, <a href="#8" class="mim-tip-reference" title="Di Natale, P., Villani, G. R. D., Di Domenico, C., Daniele, A., Dionisi Vici, C., Bartuli, A. <strong>Analysis of Sanfilippo A gene mutations in a large pedigree.</strong> Clin. Genet. 63: 314-318, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12702166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12702166</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00053.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12702166">Di Natale et al. (2003)</a> showed that mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>) was caused by compound heterozygosity for 2 mutations in the SGSH gene: in 1 cousin, with severe disease, the mutations were glu369 to lys (E369K) and arg433 to gln (R433Q; <a href="#0010">605270.0010</a>); in the other, with the attenuated form of the disease, the mutations were E369K and pro128 to leu (P128L; <a href="#0011">605270.0011</a>). <a href="#8" class="mim-tip-reference" title="Di Natale, P., Villani, G. R. D., Di Domenico, C., Daniele, A., Dionisi Vici, C., Bartuli, A. <strong>Analysis of Sanfilippo A gene mutations in a large pedigree.</strong> Clin. Genet. 63: 314-318, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12702166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12702166</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00053.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12702166">Di Natale et al. (2003)</a> identified R433Q as a severe mutation underlying Sanfilippo syndrome A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12702166" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, ARG433GLN
|
|
</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> rs104894641 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894641;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/rs104894641?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=rs104894641" 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=rs104894641" 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=RCV000005416 OR RCV000790770 OR RCV002512806" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005416, RCV000790770, RCV002512806" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005416...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg433-to-gln (R433Q) mutation in the SGSH gene that was found in compound heterozygous state in a patient with Sanfilippo syndrome A (<a href="/entry/252900">252900</a>) by <a href="#8" class="mim-tip-reference" title="Di Natale, P., Villani, G. R. D., Di Domenico, C., Daniele, A., Dionisi Vici, C., Bartuli, A. <strong>Analysis of Sanfilippo A gene mutations in a large pedigree.</strong> Clin. Genet. 63: 314-318, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12702166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12702166</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00053.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12702166">Di Natale et al. (2003)</a>, see <a href="#0009">605270.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12702166" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, PRO128LEU
|
|
</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> rs104894642 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894642;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/rs104894642?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=rs104894642" 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=rs104894642" 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=RCV000005417 OR RCV004766982" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005417, RCV004766982" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005417...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the pro128-to-leu (P128L) mutation in the SGSH gene that was found in compound heterozygous state in a patient with the attenuated form of mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>) by <a href="#8" class="mim-tip-reference" title="Di Natale, P., Villani, G. R. D., Di Domenico, C., Daniele, A., Dionisi Vici, C., Bartuli, A. <strong>Analysis of Sanfilippo A gene mutations in a large pedigree.</strong> Clin. Genet. 63: 314-318, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12702166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12702166</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2003.00053.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12702166">Di Natale et al. (2003)</a>, see <a href="#0009">605270.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12702166" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, ARG206PRO
|
|
</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> rs104894643 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894643;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/rs104894643?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=rs104894643" 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=rs104894643" 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=RCV000005425" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005425" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005425</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the attenuated form of mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), <a href="#11" class="mim-tip-reference" title="Gabrielli, O., Coppa, G. V., Bruni, S., Villani, G. R. D., Pontarelli, G., Di Natale, P. <strong>An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.</strong> Am. J. Med. Genet. 133A: 85-89, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637719</a>] [<a href="https://doi.org/10.1002/ajmg.a.30552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15637719">Gabrielli et al. (2005)</a> identified a homozygous mutation in exon 5 of the SGSH gene, resulting in an arg206-to-pro (R206P) substitution. Biochemical studies showed that the mutant enzyme retained 8% residual activity. The patient had moderate mental retardation without behavioral abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637719" 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 MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SGSH, SER298PRO
|
|
</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> rs138504221 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs138504221;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/rs138504221?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=rs138504221" 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=rs138504221" 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=RCV000023412 OR RCV000078357 OR RCV000326423 OR RCV001003995 OR RCV001030818 OR RCV001837443 OR RCV004965262" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023412, RCV000078357, RCV000326423, RCV001003995, RCV001030818, RCV001837443, RCV004965262" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023412...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIIA (MPS3A; <a href="/entry/252900">252900</a>), <a href="#4" class="mim-tip-reference" title="Bunge, S., Ince, H., Steglich, C., Kleijer, W. J., Beck, M., Zaremba, J., van Diggelen, O. P., Weber, B., Hopwood, J. J., Gal, A. <strong>Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).</strong> Hum. Mutat. 10: 479-485, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401012</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9401012">Bunge et al. (1997)</a> identified an 892T-C transition in the SGSH gene, resulting in a ser298-to-pro (S298P) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9401012" 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="Meyer, A., Kossow, K., Gal, A., Steglich, C., Muhlhausen, C., Ullrich, K., Braulke, T., Muschol, N. <strong>The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).</strong> Hum. Mutat. 29: 770 only, 2008. Note: Full Article Online.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18407553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18407553</a>] [<a href="https://doi.org/10.1002/humu.20738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18407553">Meyer et al. (2008)</a> identified the S298P mutation in 10 patients with the attenuated form of MPS IIIA. These patients showed a lower frequency and later onset of the typical symptoms of the disease. The onset of regression in speech abilities and cognitive functions was delayed by 0.7 and 0.8 years, respectively, and the onset of regression of motor functions occurred 6.1 years later than in all other MPS IIIA patients. Severe regression in speech, cognitive and motor functions were delayed by 5, 5.9, and 11.2 years, respectively. The findings suggested that the S298P allele is associated with a slowly progressive phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18407553" 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="#21" class="mim-tip-reference" title="Valstar, M. J., Neijs, S., Bruggenwirth, H. T., Olmer, R., Ruijter, G. J. G., Wevers, R. A., van Diggelen, O. P., Poorthuis, B. J., Halley, D. J., Wijburg, F. A. <strong>Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.</strong> Ann. Neurol. 68: 876-887, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21061399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21061399</a>] [<a href="https://doi.org/10.1002/ana.22092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21061399">Valstar et al. (2010)</a> also provided evidence that the S298P mutation is associated with an attenuated form of MPS IIIA in several patients from the Netherlands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21061399" 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="Bhattacharyya2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bhattacharyya, R., Gliddon, B., Beccari, T., Hopwood, J. J., Stanley, P.
|
|
<strong>A novel missense mutation in lysosomal sulfamidase is the basis of MPS IIIA in a spontaneous mouse mutant.</strong>
|
|
Glycobiology 11: 99-103, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11181566" 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/glycob/11.1.99" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bielicki1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bielicki, J., Hopwood, J. J., Melville, E. L., Anson, D. S.
|
|
<strong>Recombinant human sulphamidase: expression, amplification, purification and characterization.</strong>
|
|
Biochem. J. 329: 145-150, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9405287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9405287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9405287" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1042/bj3290145" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Blanch1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Blanch, L., Weber, B., Guo, X.-H., Scott, H. S., Hopwood, J. J.
|
|
<strong>Molecular defects in Sanfilippo syndrome type A.</strong>
|
|
Hum. Molec. Genet. 6: 787-791, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158154" 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/6.5.787" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bunge1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bunge, S., Ince, H., Steglich, C., Kleijer, W. J., Beck, M., Zaremba, J., van Diggelen, O. P., Weber, B., Hopwood, J. J., Gal, A.
|
|
<strong>Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).</strong>
|
|
Hum. Mutat. 10: 479-485, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9401012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9401012</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9401012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Chabas2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chabas, A., Montfort, M., Martinez-Campos, M., Diaz, A., Coll, M. J., Grinberg, D., Vilageliu, L.
|
|
<strong>Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.</strong>
|
|
Am. J. Med. Genet. 100: 223-228, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343308" 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.1248" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Costanzi2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Costanzi, E., Beccari, T., Stinchi, S., Bibi, L., Hopwood, J. J., Orlacchio, A.
|
|
<strong>Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.</strong>
|
|
Mammalian Genome 11: 436-439, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10818207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10818207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10818207" 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/s003350010083" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Di Natale1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Di Natale, P., Balzano, N., Esposito, S., Villani, G. R. D.
|
|
<strong>Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.</strong>
|
|
Hum. Mutat. 11: 313-320, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9554748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9554748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9554748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Di Natale2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Di Natale, P., Villani, G. R. D., Di Domenico, C., Daniele, A., Dionisi Vici, C., Bartuli, A.
|
|
<strong>Analysis of Sanfilippo A gene mutations in a large pedigree.</strong>
|
|
Clin. Genet. 63: 314-318, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12702166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12702166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12702166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2003.00053.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Di Natale1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Di Natale, P., Villani, G. R. D., Esposito, S., Balzano, N., Filocamo, M., Gatti, R.
|
|
<strong>Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele. (Letter)</strong>
|
|
Prenatal Diag. 19: 993-994, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521831" 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)1097-0223(199910)19:10<993::aid-pd661>3.0.co;2-l" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Esposito2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Esposito, S., Balzano, N., Daniele, A., Villani, G. R. D., Perkins, K., Weber, B., Hopwood, J. J., Di Natale, P.
|
|
<strong>Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.</strong>
|
|
Biochim. Biophys. Acta 1501: 1-11, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10727844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10727844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10727844" 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/s0925-4439(99)00118-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Gabrielli2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gabrielli, O., Coppa, G. V., Bruni, S., Villani, G. R. D., Pontarelli, G., Di Natale, P.
|
|
<strong>An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.</strong>
|
|
Am. J. Med. Genet. 133A: 85-89, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637719/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637719</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637719" 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.30552" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Intartaglia2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Intartaglia, D., Giamundo, G., Marrocco, E., Maffia, V., Salierno, F. G., Nusco, E., Fraldi, A., Conte, I., Sorrentino, N. C.
|
|
<strong>Retinal degeneration in MPS-IIIA mouse model.</strong>
|
|
Front. Cell Dev. Biol. 8: 132, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32195255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32195255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32195255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3389/fcell.2020.00132" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Karageorgos1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karageorgos, L. E., Guo, X.-H., Blanch, L., Weber, B., Anson, D. S., Scott, H. S., Hopwood, J. J.
|
|
<strong>Structure and sequence of the human sulphamidase gene.</strong>
|
|
DNA Res. 3: 269-271, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8946167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8946167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8946167" 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/dnares/3.4.269" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Lee-Chen2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee-Chen, G. J., Lin, S. P., Ko, M. H., Chuang, C. K., Chen, C. P., Lee, H. H., Cheng, S. C., Shen, C. H., Tseng, K. L., Li, C. L.
|
|
<strong>Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).</strong>
|
|
Clin. Genet. 61: 192-197, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12000360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12000360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12000360" 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.1399-0004.2002.610304.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Meyer2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meyer, A., Kossow, K., Gal, A., Steglich, C., Muhlhausen, C., Ullrich, K., Braulke, T., Muschol, N.
|
|
<strong>The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).</strong>
|
|
Hum. Mutat. 29: 770 only, 2008. Note: Full Article Online.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18407553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18407553</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18407553" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.20738" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Montfort1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M. J., Chabas, A., Grinberg, D.
|
|
<strong>Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.</strong>
|
|
Hum. Mutat. 12: 274-279, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9744479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9744479</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9744479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Rodewald1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rodewald, A., Cleve, H., Stengel-Rutkowski, S., Wirtz, A., Murken, J. D., DiValerio, M., Mulivor, R. A., Greene, A. E., Coriell, L. L.
|
|
<strong>A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA: repository identification No. GM1881.</strong>
|
|
Cytogenet. Cell Genet. 27: 267, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6777119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6777119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6777119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000131495" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Saville2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saville, J. T., Fuller, M.
|
|
<strong>Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.</strong>
|
|
Molec. Genet. Metab. 129: 111-116, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31494022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31494022</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31494022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2019.08.008" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Scott1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scott, H. S., Blanch, L., Guo, X.-H., Freeman, C., Orsborn, A., Baker, E., Sutherland, G. R., Morris, C. P., Hopwood, J. J.
|
|
<strong>Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.</strong>
|
|
Nature Genet. 11: 465-467, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493035</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493035" 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/ng1295-465" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Tillo2022" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tillo, M., Lamanna, W. C., Dwyer, C. A., Sandoval, D. R., Pessentheiner, A. R., Al-Azzam, N., Sarrazin, S., Gonzales, J. C., Kan, S. H., Andreyev, A. Y., Schultheis, N., Thacker, B. E., Glass, C. A., Dickson, P. I., Wang, R. Y., Selleck, S. B., Esko, J. D., Gordts, P. L. S. M.
|
|
<strong>Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation.</strong>
|
|
J. Biol. Chem. 298: 102159, 2022.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35750212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35750212</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35750212[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=35750212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.jbc.2022.102159" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Valstar2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Valstar, M. J., Neijs, S., Bruggenwirth, H. T., Olmer, R., Ruijter, G. J. G., Wevers, R. A., van Diggelen, O. P., Poorthuis, B. J., Halley, D. J., Wijburg, F. A.
|
|
<strong>Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.</strong>
|
|
Ann. Neurol. 68: 876-887, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21061399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21061399</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21061399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.22092" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Weber1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weber, B., van de Kamp, J. J. P., Kleijer, W. J., Guo, X.-H., Blanch, L., van Diggelen, O. P., Wevers, R., Poorthuis, B. J. H. M., Hopwood, J. J.
|
|
<strong>Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands.</strong>
|
|
J. Inherit. Metab. Dis. 21: 416-422, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1023/a:1005362826552" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Yogalingam2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yogalingam, G., Hopwood, J. J.
|
|
<strong>Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications.</strong>
|
|
Hum. Mutat. 18: 264-281, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11668611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11668611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11668611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.1189" 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">
|
|
Hilary J. Vernon - updated : 05/03/2023
|
|
</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">
|
|
Hilary J. Vernon - updated : 10/20/2022<br>Cassandra L. Kniffin - updated : 3/21/2011<br>Cassandra L. Kniffin - updated : 9/14/2009<br>Cassandra L. Kniffin - updated : 10/12/2005<br>Victor A. McKusick - updated : 5/12/2003<br>Victor A. McKusick - updated : 8/12/2002<br>Victor A. McKusick - updated : 2/15/2002<br>Victor A. McKusick - updated : 5/15/2001<br>Anne M. Stumpf - updated : 9/15/2000
|
|
</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 : 9/14/2000
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/03/2023
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 10/20/2022<br>carol : 01/19/2017<br>carol : 07/13/2015<br>mcolton : 7/10/2015<br>carol : 12/9/2014<br>carol : 2/12/2014<br>mcolton : 2/12/2014<br>carol : 7/6/2011<br>terry : 4/26/2011<br>terry : 4/13/2011<br>wwang : 3/28/2011<br>ckniffin : 3/21/2011<br>wwang : 10/6/2009<br>ckniffin : 9/14/2009<br>ckniffin : 11/16/2005<br>wwang : 10/24/2005<br>ckniffin : 10/12/2005<br>carol : 5/15/2003<br>tkritzer : 5/14/2003<br>terry : 5/12/2003<br>terry : 12/31/2002<br>tkritzer : 8/15/2002<br>tkritzer : 8/13/2002<br>terry : 8/12/2002<br>cwells : 2/25/2002<br>cwells : 2/20/2002<br>terry : 2/15/2002<br>mcapotos : 5/22/2001<br>terry : 5/15/2001<br>carol : 9/15/2000<br>alopez : 9/15/2000<br>alopez : 9/15/2000
|
|
</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> 605270
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
|
|
|
|
</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">
|
|
HEPARAN SULFATE SULFATASE; HSS<br />
|
|
SULFAMIDASE
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SGSH</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 41572006;
|
|
|
|
|
|
<strong>ICD10CM:</strong> E76.22;
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 17q25.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 17:80,200,673-80,220,333 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
17q25.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Mucopolysaccharidosis type IIIA (Sanfilippo A)
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
252900
|
|
</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>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Scott et al. (1995) reported the isolation, sequence, and expression of cDNA clones encoding N-sulfoglucosamine sulfohydrolase, the enzyme deficient in mucopolysaccharidosis IIIA (MPS3A; 252900), also known as Sanfilippo syndrome A. By micropeptide sequence analysis, followed by screening of a cDNA kidney library, they isolated a cDNA encoding a 502-amino acid sulfamidase protein. Sequence analysis predicted that the 482-amino acid mature protein contains 5 potential N-glycosylation sites. Northern blot analysis revealed expression of 3.1-, 4.3-, and 7.1-kb transcripts that are variably expressed in all tissues except brain. </p><p>By SDS-PAGE analysis, Bielicki et al. (1998) determined that recombinant and native sulfamidase is expressed in CHO cells as a 115-kD dimer with an approximately 63-kD major subunit and an approximately 57-kD minor subunit with identical N-terminal residues after cleavage of the leader peptide. Kinetic analysis showed that the recombinant enzyme has similar parameters to the native type and is endocytosed by MPS IIIA fibroblasts via the mannose 6-phosphate receptor (see 154540), suggesting that the recombinant sulfamidase may be a suitable candidate for enzyme replacement therapy. </p><p>Costanzi et al. (2000) isolated and sequenced the mouse Sgsh gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Karageorgos et al. (1996) determined the structure of the SGSH gene and the sequence of the exon/intron boundaries and the 5-prime promoter region. The gene contains 8 exons spanning approximately 11 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Karageorgos et al. (1996) isolated a genomic clone containing the entire sulfamidase gene from a chromosome 17-specific gridded cosmid library. </p><p>By fluorescence in situ hybridization, Scott et al. (1995) mapped the sulfamidase gene to 17q25, with 17q25.3 as the most likely localization. They suggested that a (1;21) balanced translocation reported by Rodewald et al. (1980) in a patient with MPS IIIA was an incidental finding. </p><p>Costanzi et al. (2000) found that the mouse Sgsh gene maps to the distal end of chromosome 11, in a region that is homologous with a segment of human chromosome 17 containing the orthologous human gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated patients with mucopolysaccharidosis type IIIA (MPS3A; 252900), also known as Sanfilippo syndrome A, Scott et al. (1995) identified an 11-bp deletion in sulfamidase cDNA (605270.0008). </p><p>Blanch et al. (1997) investigated molecular defects in the sulfamidase gene in 10 patients with MPS3A of Australian and American origin. The entire coding region of the gene was RT-PCR amplified and 1 polymorphism, 4 novel mutations (S66W, 605270.0003; R245H, 605270.0001; E447K, 605270.0006; and 1307del9, 605270.0007), and 1 previously described mutation (1284del11, 605270.0008) were identified by PCR sequencing. R245H was present in 6 patients, including 1 severely affected homozygote. In 3 of the other patients with R245H, second mutant alleles were identified as S66W, 1284del11, and E447K. </p><p>In a mutation screen of 42 European patients with MPS3, Bunge et al. (1997) identified 17 different mutations, of which 16 were novel. A missense mutation (R74C; 605270.0002) that altered an evolutionarily conserved amino acid in the active site of the sulfamidase enzyme was found on 56% of alleles of 16 Polish patients, whereas it was less frequent (21% of disease alleles) among German patients. R245H, a common mutation reported by Blanch et al. (1997), represented 35% of disease alleles in German patients, but only 3% in Polish patients. </p><p>Di Natale et al. (1998) characterized 38 (79%) pathogenic alleles in 24 Italian MPS IIIA patients. They identified 16 different molecular defects, of which 13 were novel. Most were missense mutations. Two single basepair deletions and a basepair insertion were also identified. The previously identified S66W substitution (605270.0003) represented the most common alteration, accounting for 33% of total alleles. All 6 patients from Sardinia had this mutation and 5 of them were homozygous for the change, suggesting that these patients may share a common ancestor. </p><p>Esposito et al. (2000) reported 2 novel mutations and stated that approximately 40 mutations of the heparan N-sulfatase gene leading to MPS IIIA had been described. In expression studies of 15 of the mutations, none yielded active enzyme. Western blot analysis and metabolic labeling experiments revealed, for cells transfected with wildtype enzyme, a precursor 62-kD form and a mature 56-kD form. For 11 of the 15 mutations, Western blot analysis resulted in the demonstration of both forms, indicating a normal maturation of the mutant enzyme. For the other 4 mutations, studies indicated increased degradation of the mutant enzymes. </p><p>Yogalingam and Hopwood (2001) reported that 62 mutations in the SGSH gene causing MPS IIIA had been defined: 46 missense/nonsense mutations, 15 small insertions/deletions, and 1 splice site mutation. Most of the mutations identified in SGSH, and in NAGLU (609701) in MPS IIIB (252920), are associated with severe clinical phenotypes. </p><p>In 2 Chinese patients with MPS IIIA, Lee-Chen et al. (2002) identified 4 missense mutations (both were compound heterozygotes) and 5 polymorphisms in the SGSH gene. The polymorphic haplotype of the SGSH gene was analyzed in 52 unrelated subjects. All 5 polymorphisms were in Hardy-Weinberg equilibrium. The strong nonrandom association among the 5 polymorphisms suggested that there is little or no recombination in the SGSH gene. </p><p>Di Natale et al. (2003) described a large pedigree in which 2 second cousins had Sanfilippo syndrome A caused by mutations in the SGSH gene: 1 cousin, with severe disease, was a compound heterozygote for the mutations glu369 to lys (E369K; 605270.0009) and arg433 to gln (R433Q; 605270.0010); the other, with a mild form of the disorder, was a compound heterozygote for the mutations E369K and pro128 to leu (P128L; 605270.0011). </p><p>Gabrielli et al. (2005) reported an Italian woman with a mild form of Sanfilippo syndrome A caused by a homozygous mutation in the SGSH gene (R206P; 605270.0012). </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>Valstar et al. (2010) retrospectively reviewed the clinical features of 92 patients with MPS IIIA, including 32 living and 60 deceased individuals. There was wide phenotypic variability that correlated with genotype. In particular, those with 1 or more S298P (605270.0013) mutant alleles had an attenuated phenotype, with a significantly longer preservation of psychomotor functions and a longer survival. The most frequent pathogenic mutations were R245H (605270.0001), Q380R, S66W (605270.0003), and 1080delC, all of which were associated with the classic severe phenotype. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Bhattacharyya et al. (2001) described a spontaneous mouse mutant of MPS IIIa resulting from a homozygous asp31-to-asn (D31N) mutation in the murine sulfatase gene. Affected mice died at about 10 months of age exhibiting a distended bladder and hepatosplenomegaly. Brain sections show distended lysosomes, some with typical zebra body morphology, and many containing periodic acid-Schiff-positive storage material. Urinalysis revealed an accumulation of heparan sulfate. Assays of a variety of lysosomal hydrolases in brain, liver, and kidney extracts uncovered a specific defect in sulfamidase activity, which was reduced by about 97%. </p><p>Saville and Fuller (2020) studied lipid content in the brains of a naturally occurring mouse model of MPS IIIA at 1 and 6 months of age. Heparin sulfate (HS) disaccharide levels were increased in the mutant mice compared to controls across all 4 brain regions that were evaluated (brainstem, cortex, cerebellum and subcortex) at 1 month of age. At 6 months of age, HS disaccharide levels were increased in the cortex and subcortex regions compared to mutant mice at 1 month of age, but levels in the cerebellum were unchanged. There was a significantly higher level of GM2 gangliosides in the mutant mice compared to controls at 1 month of age in all brain regions except the cortex, and the level was highest in the brainstem. At 6 months of age, GM2 levels were increased in all brain regions compared to controls and 1-month-old mutant mice. GM3 levels were elevated in the brainstem and subcortex of 1-month-old mutant mice compared to controls. At 6 months of age, GM3 levels were significantly elevated in all brain regions compared to both 1-month-old mutant mice and controls. Saville and Fuller (2020) concluded that alterations in ganglioside metabolism and sphingolipid metabolism differed by age and brain region in the naturally occurring mouse model of MPS IIIA. </p><p>In a mouse model of MPS IIIA, Intartaglia et al. (2020) demonstrated progressive decrease of retinal function with a gradual loss of cones starting at 3 months of age and culminating in severe retinal dysfunction at 9 months of age. This was accompanied by an inflammatory microglial cell response and increased apoptotic cell death in the retinal outer nerve layer by 9 months of age. Intartaglia et al. (2020) also found increased heparan sulfate in the retinal cells correlating to a block in lysosomal-autophagosomal fusion and consistent with defective autophagy. </p><p>Tillo et al. (2022) investigated the etiology of cachexia in a mouse model of MPS IIIA. The mutant mice had increased intestinal uptake of dietary triglyceride (triolein) and fasting and postprandial hypertriglyceridemia compared to wildtype mice. This correlated to increased uptake of triolein into brown adipose tissue, followed by hyperthermia, increased eating and drinking, and increased energy expenditure. Mutant mice who were treated with a lipolytic inhibitor were cold intolerant, suggesting that they were unable to generate energy from endogenous stored lipids and were instead reliant on exogenous lipids for fuel. The brown adipose tissue in the mutant mice also had increased mitochondrial content resulting from abnormal lysosomal-autophagosome fusion, and Tillo et al. (2022) hypothesized that this impaired autophagy led to increased energy expenditure in brown adipose tissue. Postprandial hypertriglyceridemia was ameliorated by enzyme replacement therapy with sulfamidase. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>13 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, ARG245HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894635,
|
|
|
|
|
|
gnomAD: rs104894635,
|
|
|
|
|
|
ClinVar: RCV000005414, RCV000078356, RCV000348775, RCV000623663, RCV001030817, RCV001837434, RCV003415657
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 of 10 Australian and American patients with mucopolysaccharidosis type IIIA (MPS3A; 252900), also known as Sanfilippo syndrome A, Blanch et al. (1997) demonstrated that at least 1 allele of the sulfamidase gene carried a G-to-A transition at nucleotide position 746, changing arginine-245 to a histidine (R245H). This missense mutation was present in 7 of 20 alleles from the 6 patients, including 1 patient homozygous for R245H. </p><p>In the Netherlands, Weber et al. (1998) found that the R245H mutation accounted for 56.7% of the Sanfilippo A alleles. The R245H allele had a higher prevalence in western than in eastern regions of the Netherlands. Of 39 MPS III patients, for whom they had uniform clinical data, 13 patients who were homozygous for this common mutation had a more uniform but severe clinical phenotype than the remaining 21 or 5 patients, with, respectively, 1 or no R245H alleles. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, ARG74CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894636,
|
|
|
|
|
|
gnomAD: rs104894636,
|
|
|
|
|
|
ClinVar: RCV000005415, RCV000078354, RCV000626628, RCV001030813
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Bunge et al. (1997) found that the missense mutation arg74-to-cys (R74C), which alters an evolutionarily conserved amino acid in the active site of the sulfamidase enzyme, was present in 56% of SGSH alleles of 16 Polish patients with mucopolysaccharidosis type IIIA (MPS3A; 252900), whereas it was less frequent (21% of disease alleles) among German patients. The R245H mutation (605270.0001) represented 35% of disease alleles in German patients, but only 3% in Polish patients. Because the combined frequency of the common mutations R74C and R245H in German and Polish populations exceeded 55%, Bunge et al. (1997) suggested that screenings for these 2 mutations would assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, SER66TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894637,
|
|
|
|
|
|
gnomAD: rs104894637,
|
|
|
|
|
|
ClinVar: RCV000005418, RCV000255782, RCV000586103, RCV001030815, RCV002512807, RCV003934800
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Among 24 Italian mucopolysaccharidosis IIIA (MPS3A; 252900) patients, Di Natale et al. (1998) identified a ser66-to-trp (S66W) missense mutation in the SGSH gene, accounting for 33% of all mutant alleles. All 6 patients from Sardinia had this mutation and 5 of them were homozygous for the change, suggesting that they may share a common ancestor. Montfort et al. (1998) found the S66W mutation in exon 2 in compound heterozygous state in a Spanish patient with Sanfilippo syndrome A. </p><p>Di Natale et al. (1999) reported the prenatal diagnosis of Sanfilippo syndrome A by study of chorionic villi in the 11-week-old fetus of a woman who was homozygous for the S66W mutation. Because of the findings, the pregnancy was terminated at 12 weeks' gestation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, 1-BP DEL, 1091C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs770947426,
|
|
|
|
|
|
gnomAD: rs770947426,
|
|
|
|
|
|
ClinVar: RCV000606285, RCV000986195, RCV001030816
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Montfort et al. (1998) presented mutation analysis and clinical findings in 11 Spanish patients with mucopolysaccharidosis type IIIA (MPS3A; 252900) in whom 19 of the 22 mutant alleles had been identified. Seven different mutations were found, of which 4 had not previously been described. The most frequent mutation was a 1-bp deletion (C) at nucleotide 1091 which accounted for nearly one-half of the mutated alleles. It was present in homozygous state in 3 patients and in compound heterozygous state in 3 patients. Mutations R74C (605270.0002) and R245H (605270.0001) were not found in this study. </p><p>In a study in Barcelona, Chabas et al. (2001) found that chromosomes bearing the 1091delC mutation showed a conserved haplotype, suggesting a common origin for this mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, ARG150GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894638,
|
|
|
|
|
|
gnomAD: rs104894638,
|
|
|
|
|
|
ClinVar: RCV000005420, RCV004755712
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Spanish patient with mucopolysaccharidosis type IIIA (MPS3A; 252900), Montfort et al. (1998) found an arg150-to-glu (R150Q) mutation in exon 4 of the SGSH gene. The same mutation had previously been identified by Di Natale et al. (1998). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, GLU447LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894639,
|
|
|
|
|
|
gnomAD: rs104894639,
|
|
|
|
|
|
ClinVar: RCV000005421, RCV000413635, RCV000624626
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIIA (MPS3A; 252900), Blanch et al. (1997) found a G-to-A transition at nucleotide 1351 of the SGSH gene, which resulted in a glu447-to-lys (E447K) amino acid substitution. They found this mutation in compound heterozygosity with the R245H mutation (605270.0001). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, 9-BP DEL, NT1307
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1567914835,
|
|
|
|
|
|
|
|
ClinVar: RCV001931104, RCV004762253
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIIA (MPS3A; 252900), Blanch et al. (1997) found a 9-bp deletion of the SGSH gene, beginning at nucleotide 1307. This deletion resulted in the last 2 bases of codon 432 being changed from AC to GC, leading to a tyrosine-to-tryptophan substitution (Y432W). Additionally, the next 3 amino acids (arg433, ala434, and arg435) were deleted before restoration of the normal reading frame at trp436. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, 11-BP DEL, NT1284
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs752914124,
|
|
|
|
|
|
gnomAD: rs752914124,
|
|
|
|
|
|
ClinVar: RCV000295921, RCV000484018, RCV001003994, RCV004955382
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIIA (MPS3A; 252900), Blanch et al. (1997) found an 11-bp deletion of the SGSH gene, beginning at nucleotide 1284. This deletion resulted in a change of the last base of codon 424 from C to G, altering the original tyrosine to a stop codon and leading to a 78-amino acid shortened sulfamidase. </p><p>Scott et al. (1995) identified this mutation in sulfamidase cDNA from 2 unrelated patients with Sanfilippo syndrome A. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, GLU369LYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894640,
|
|
|
|
|
|
gnomAD: rs104894640,
|
|
|
|
|
|
ClinVar: RCV000005424, RCV000078349, RCV003894791
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 second cousins from a large family, Di Natale et al. (2003) showed that mucopolysaccharidosis type IIIA (MPS3A; 252900) was caused by compound heterozygosity for 2 mutations in the SGSH gene: in 1 cousin, with severe disease, the mutations were glu369 to lys (E369K) and arg433 to gln (R433Q; 605270.0010); in the other, with the attenuated form of the disease, the mutations were E369K and pro128 to leu (P128L; 605270.0011). Di Natale et al. (2003) identified R433Q as a severe mutation underlying Sanfilippo syndrome A. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 MUCOPOLYSACCHARIDOSIS, TYPE IIIA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, ARG433GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894641,
|
|
|
|
|
|
gnomAD: rs104894641,
|
|
|
|
|
|
ClinVar: RCV000005416, RCV000790770, RCV002512806
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg433-to-gln (R433Q) mutation in the SGSH gene that was found in compound heterozygous state in a patient with Sanfilippo syndrome A (252900) by Di Natale et al. (2003), see 605270.0009. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, PRO128LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894642,
|
|
|
|
|
|
gnomAD: rs104894642,
|
|
|
|
|
|
ClinVar: RCV000005417, RCV004766982
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the pro128-to-leu (P128L) mutation in the SGSH gene that was found in compound heterozygous state in a patient with the attenuated form of mucopolysaccharidosis type IIIA (MPS3A; 252900) by Di Natale et al. (2003), see 605270.0009. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, ARG206PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894643,
|
|
|
|
|
|
gnomAD: rs104894643,
|
|
|
|
|
|
ClinVar: RCV000005425
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the attenuated form of mucopolysaccharidosis type IIIA (MPS3A; 252900), Gabrielli et al. (2005) identified a homozygous mutation in exon 5 of the SGSH gene, resulting in an arg206-to-pro (R206P) substitution. Biochemical studies showed that the mutant enzyme retained 8% residual activity. The patient had moderate mental retardation without behavioral abnormalities. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 MUCOPOLYSACCHARIDOSIS, TYPE IIIA, ATTENUATED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SGSH, SER298PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs138504221,
|
|
|
|
|
|
gnomAD: rs138504221,
|
|
|
|
|
|
ClinVar: RCV000023412, RCV000078357, RCV000326423, RCV001003995, RCV001030818, RCV001837443, RCV004965262
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with mucopolysaccharidosis type IIIA (MPS3A; 252900), Bunge et al. (1997) identified an 892T-C transition in the SGSH gene, resulting in a ser298-to-pro (S298P) substitution. </p><p>Meyer et al. (2008) identified the S298P mutation in 10 patients with the attenuated form of MPS IIIA. These patients showed a lower frequency and later onset of the typical symptoms of the disease. The onset of regression in speech abilities and cognitive functions was delayed by 0.7 and 0.8 years, respectively, and the onset of regression of motor functions occurred 6.1 years later than in all other MPS IIIA patients. Severe regression in speech, cognitive and motor functions were delayed by 5, 5.9, and 11.2 years, respectively. The findings suggested that the S298P allele is associated with a slowly progressive phenotype. </p><p>Valstar et al. (2010) also provided evidence that the S298P mutation is associated with an attenuated form of MPS IIIA in several patients from the Netherlands. </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">
|
|
Bhattacharyya, R., Gliddon, B., Beccari, T., Hopwood, J. J., Stanley, P.
|
|
<strong>A novel missense mutation in lysosomal sulfamidase is the basis of MPS IIIA in a spontaneous mouse mutant.</strong>
|
|
Glycobiology 11: 99-103, 2001.
|
|
|
|
|
|
[PubMed: 11181566]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/glycob/11.1.99]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bielicki, J., Hopwood, J. J., Melville, E. L., Anson, D. S.
|
|
<strong>Recombinant human sulphamidase: expression, amplification, purification and characterization.</strong>
|
|
Biochem. J. 329: 145-150, 1998.
|
|
|
|
|
|
[PubMed: 9405287]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1042/bj3290145]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blanch, L., Weber, B., Guo, X.-H., Scott, H. S., Hopwood, J. J.
|
|
<strong>Molecular defects in Sanfilippo syndrome type A.</strong>
|
|
Hum. Molec. Genet. 6: 787-791, 1997.
|
|
|
|
|
|
[PubMed: 9158154]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/6.5.787]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bunge, S., Ince, H., Steglich, C., Kleijer, W. J., Beck, M., Zaremba, J., van Diggelen, O. P., Weber, B., Hopwood, J. J., Gal, A.
|
|
<strong>Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).</strong>
|
|
Hum. Mutat. 10: 479-485, 1997.
|
|
|
|
|
|
[PubMed: 9401012]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chabas, A., Montfort, M., Martinez-Campos, M., Diaz, A., Coll, M. J., Grinberg, D., Vilageliu, L.
|
|
<strong>Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.</strong>
|
|
Am. J. Med. Genet. 100: 223-228, 2001.
|
|
|
|
|
|
[PubMed: 11343308]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1248]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Costanzi, E., Beccari, T., Stinchi, S., Bibi, L., Hopwood, J. J., Orlacchio, A.
|
|
<strong>Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.</strong>
|
|
Mammalian Genome 11: 436-439, 2000.
|
|
|
|
|
|
[PubMed: 10818207]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s003350010083]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Di Natale, P., Balzano, N., Esposito, S., Villani, G. R. D.
|
|
<strong>Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.</strong>
|
|
Hum. Mutat. 11: 313-320, 1998.
|
|
|
|
|
|
[PubMed: 9554748]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Di Natale, P., Villani, G. R. D., Di Domenico, C., Daniele, A., Dionisi Vici, C., Bartuli, A.
|
|
<strong>Analysis of Sanfilippo A gene mutations in a large pedigree.</strong>
|
|
Clin. Genet. 63: 314-318, 2003.
|
|
|
|
|
|
[PubMed: 12702166]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00053.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Di Natale, P., Villani, G. R. D., Esposito, S., Balzano, N., Filocamo, M., Gatti, R.
|
|
<strong>Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele. (Letter)</strong>
|
|
Prenatal Diag. 19: 993-994, 1999.
|
|
|
|
|
|
[PubMed: 10521831]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1097-0223(199910)19:10<993::aid-pd661>3.0.co;2-l]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Esposito, S., Balzano, N., Daniele, A., Villani, G. R. D., Perkins, K., Weber, B., Hopwood, J. J., Di Natale, P.
|
|
<strong>Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.</strong>
|
|
Biochim. Biophys. Acta 1501: 1-11, 2000.
|
|
|
|
|
|
[PubMed: 10727844]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0925-4439(99)00118-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gabrielli, O., Coppa, G. V., Bruni, S., Villani, G. R. D., Pontarelli, G., Di Natale, P.
|
|
<strong>An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.</strong>
|
|
Am. J. Med. Genet. 133A: 85-89, 2005.
|
|
|
|
|
|
[PubMed: 15637719]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.30552]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Intartaglia, D., Giamundo, G., Marrocco, E., Maffia, V., Salierno, F. G., Nusco, E., Fraldi, A., Conte, I., Sorrentino, N. C.
|
|
<strong>Retinal degeneration in MPS-IIIA mouse model.</strong>
|
|
Front. Cell Dev. Biol. 8: 132, 2020.
|
|
|
|
|
|
[PubMed: 32195255]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3389/fcell.2020.00132]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karageorgos, L. E., Guo, X.-H., Blanch, L., Weber, B., Anson, D. S., Scott, H. S., Hopwood, J. J.
|
|
<strong>Structure and sequence of the human sulphamidase gene.</strong>
|
|
DNA Res. 3: 269-271, 1996.
|
|
|
|
|
|
[PubMed: 8946167]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/dnares/3.4.269]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee-Chen, G. J., Lin, S. P., Ko, M. H., Chuang, C. K., Chen, C. P., Lee, H. H., Cheng, S. C., Shen, C. H., Tseng, K. L., Li, C. L.
|
|
<strong>Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).</strong>
|
|
Clin. Genet. 61: 192-197, 2002.
|
|
|
|
|
|
[PubMed: 12000360]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2002.610304.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meyer, A., Kossow, K., Gal, A., Steglich, C., Muhlhausen, C., Ullrich, K., Braulke, T., Muschol, N.
|
|
<strong>The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).</strong>
|
|
Hum. Mutat. 29: 770 only, 2008. Note: Full Article Online.
|
|
|
|
|
|
[PubMed: 18407553]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.20738]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Montfort, M., Vilageliu, L., Garcia-Giralt, N., Guidi, S., Coll, M. J., Chabas, A., Grinberg, D.
|
|
<strong>Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.</strong>
|
|
Hum. Mutat. 12: 274-279, 1998.
|
|
|
|
|
|
[PubMed: 9744479]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rodewald, A., Cleve, H., Stengel-Rutkowski, S., Wirtz, A., Murken, J. D., DiValerio, M., Mulivor, R. A., Greene, A. E., Coriell, L. L.
|
|
<strong>A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA: repository identification No. GM1881.</strong>
|
|
Cytogenet. Cell Genet. 27: 267, 1980.
|
|
|
|
|
|
[PubMed: 6777119]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000131495]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saville, J. T., Fuller, M.
|
|
<strong>Sphingolipid dyshomeostasis in the brain of the mouse model of mucopolysaccharidosis type IIIA.</strong>
|
|
Molec. Genet. Metab. 129: 111-116, 2020.
|
|
|
|
|
|
[PubMed: 31494022]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2019.08.008]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scott, H. S., Blanch, L., Guo, X.-H., Freeman, C., Orsborn, A., Baker, E., Sutherland, G. R., Morris, C. P., Hopwood, J. J.
|
|
<strong>Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.</strong>
|
|
Nature Genet. 11: 465-467, 1995.
|
|
|
|
|
|
[PubMed: 7493035]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1295-465]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tillo, M., Lamanna, W. C., Dwyer, C. A., Sandoval, D. R., Pessentheiner, A. R., Al-Azzam, N., Sarrazin, S., Gonzales, J. C., Kan, S. H., Andreyev, A. Y., Schultheis, N., Thacker, B. E., Glass, C. A., Dickson, P. I., Wang, R. Y., Selleck, S. B., Esko, J. D., Gordts, P. L. S. M.
|
|
<strong>Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation.</strong>
|
|
J. Biol. Chem. 298: 102159, 2022.
|
|
|
|
|
|
[PubMed: 35750212]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.jbc.2022.102159]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Valstar, M. J., Neijs, S., Bruggenwirth, H. T., Olmer, R., Ruijter, G. J. G., Wevers, R. A., van Diggelen, O. P., Poorthuis, B. J., Halley, D. J., Wijburg, F. A.
|
|
<strong>Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.</strong>
|
|
Ann. Neurol. 68: 876-887, 2010.
|
|
|
|
|
|
[PubMed: 21061399]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.22092]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weber, B., van de Kamp, J. J. P., Kleijer, W. J., Guo, X.-H., Blanch, L., van Diggelen, O. P., Wevers, R., Poorthuis, B. J. H. M., Hopwood, J. J.
|
|
<strong>Identification of a common mutation (R245H) in Sanfilippo A patients from the Netherlands.</strong>
|
|
J. Inherit. Metab. Dis. 21: 416-422, 1998.
|
|
|
|
|
|
[PubMed: 9700599]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1023/a:1005362826552]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yogalingam, G., Hopwood, J. J.
|
|
<strong>Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications.</strong>
|
|
Hum. Mutat. 18: 264-281, 2001.
|
|
|
|
|
|
[PubMed: 11668611]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1189]
|
|
|
|
|
|
</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">
|
|
Hilary J. Vernon - updated : 05/03/2023<br>Hilary J. Vernon - updated : 10/20/2022<br>Cassandra L. Kniffin - updated : 3/21/2011<br>Cassandra L. Kniffin - updated : 9/14/2009<br>Cassandra L. Kniffin - updated : 10/12/2005<br>Victor A. McKusick - updated : 5/12/2003<br>Victor A. McKusick - updated : 8/12/2002<br>Victor A. McKusick - updated : 2/15/2002<br>Victor A. McKusick - updated : 5/15/2001<br>Anne M. Stumpf - updated : 9/15/2000
|
|
</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 : 9/14/2000
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/03/2023<br>carol : 10/20/2022<br>carol : 01/19/2017<br>carol : 07/13/2015<br>mcolton : 7/10/2015<br>carol : 12/9/2014<br>carol : 2/12/2014<br>mcolton : 2/12/2014<br>carol : 7/6/2011<br>terry : 4/26/2011<br>terry : 4/13/2011<br>wwang : 3/28/2011<br>ckniffin : 3/21/2011<br>wwang : 10/6/2009<br>ckniffin : 9/14/2009<br>ckniffin : 11/16/2005<br>wwang : 10/24/2005<br>ckniffin : 10/12/2005<br>carol : 5/15/2003<br>tkritzer : 5/14/2003<br>terry : 5/12/2003<br>terry : 12/31/2002<br>tkritzer : 8/15/2002<br>tkritzer : 8/13/2002<br>terry : 8/12/2002<br>cwells : 2/25/2002<br>cwells : 2/20/2002<br>terry : 2/15/2002<br>mcapotos : 5/22/2001<br>terry : 5/15/2001<br>carol : 9/15/2000<br>alopez : 9/15/2000<br>alopez : 9/15/2000
|
|
</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>
|
|
|
|
|