6223 lines
521 KiB
Text
6223 lines
521 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
|
|
|
|
- *300481 - CYTOCHROME b(-245), BETA SUBUNIT; CYBB
|
|
|
|
|
|
- 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=300481"><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">*300481</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cloning">Cloning and Expression</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneFunction">Gene Function</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/300481">Table View</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000165168;t=ENST00000378588" 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=1536" 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=300481" 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=ENSG00000165168;t=ENST00000378588" 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_000397,XM_047441855" 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_000397" 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=300481" 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=02382&isoform_id=02382_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/CYBB" 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/37984,115211,459300,929623,3845574,6996021,18568441,21618561,83699645,119579857,158260529,166362017,194376468,194376882,194384348,312306088,957949225,957949228,2080904831,2080904833,2217391116,2462628357" 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/P04839" 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=1536" 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=ENSG00000165168;t=ENST00000378588" 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=CYBB" 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=CYBB" 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+1536" 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/CYBB" 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:1536" 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/1536" 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=chrX&hgg_gene=ENST00000378588.5&hgg_start=37780059&hgg_end=37813461&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:2578" 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://medlineplus.gov/genetics/gene/cybb" 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=300481[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=300481[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000165168" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.gwascentral.org/search?q=CYBB" 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=CYBB" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://structure.bmc.lu.se/idbase/CYBBbase/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CYBB&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/PA27076" 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:2578" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mousephenotype.org/data/genes/MGI:88574" 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/CYBB#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:88574" 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/1536/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=1536" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-040426-1380" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1536" 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=CYBB&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
300481
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CYTOCHROME b(-245), BETA SUBUNIT; CYBB
|
|
|
|
</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">
|
|
CYTOCHROME b(558), BETA SUBUNIT<br />
|
|
p91-PHOX<br />
|
|
NADPH OXIDASE 2; NOX2<br />
|
|
GP91-1
|
|
</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=CYBB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CYBB</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/X/157?start=-3&limit=10&highlight=157">Xp21.1-p11.4</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:37780059-37813461&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'})">X:37,780,059-37,813,461</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=306400,300645" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/157?start=-3&limit=10&highlight=157">
|
|
Xp21.1-p11.4
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Chronic granulomatous disease, X-linked
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/306400"> 306400 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Immunodeficiency 34, mycobacteriosis, X-linked
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/300645"> 300645 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/300481" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300481" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Cytochrome b(-245) is a heterodimer of the p91-phox beta polypeptide (CYBB) (phox for phagocyte oxidase) and a smaller p22-phox alpha polypeptide (CYBA; <a href="/entry/608508">608508</a>).</p><p>Cytochrome b(-245) is an essential component of phagocytic NADPH-oxidase (see NOX1, <a href="/entry/300225">300225</a>), a membrane-bound enzyme complex that generates large quantities of microbicidal superoxide and other oxidants upon activation. Active NADPH oxidase also requires several cytosolic proteins, including p47-phox (NCF1; <a href="/entry/608512">608512</a>), p67-phox (<a href="/entry/233710">233710</a>), p40-phox (NCF4; <a href="/entry/601488">601488</a>), and a GTP-binding protein, either RAC1 (<a href="/entry/602048">602048</a>) in macrophages or RAC2 (<a href="/entry/602049">602049</a>) in neutrophils (<a href="#24" class="mim-tip-reference" title="Leusen, J. H. W., de Boer, M., Bolscher, B. G. J. M., Hilarius, P. M., Weening, R. S., Ochs, H. D., Roos, D., Verhoeven, A. J. <strong>A point mutation in gp91-phox of cytochrome b(558) of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.</strong> J. Clin. Invest. 93: 2120-2126, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8182143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8182143</a>] [<a href="https://doi.org/10.1172/JCI117207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8182143">Leusen et al., 1994</a>). This cytochrome b has a very low midpoint potential of -245 mV and a characteristic spectrophotometric absorption band at 558 nm, and is also known as cytochrome b(558). The CYBB gene product has also been referred to as cgd91-phox (<a href="#38" class="mim-tip-reference" title="Schapiro, B. L., Newburger, P. E., Klempner, M. S., Dinauer, M. C. <strong>Chronic granulomatous disease presenting in a 69-year-old man.</strong> New Eng. J. Med. 325: 1786-1790, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719419</a>] [<a href="https://doi.org/10.1056/NEJM199112193252506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1719419">Schapiro et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1719419+8182143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In what may be the first example of 'reverse genetics,' later more appropriately termed 'positional cloning,' <a href="#36" class="mim-tip-reference" title="Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., Orkin, S. H. <strong>Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.</strong> Nature 322: 32-38, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2425263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2425263</a>] [<a href="https://doi.org/10.1038/322032a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2425263">Royer-Pokora et al. (1986)</a> cloned the gene that is abnormal in X-linked chronic granulomatous disease (CGD; <a href="/entry/306400">306400</a>) without reference to a specific protein. This was done by relying on the chromosomal map position of the gene and was, in effect, a byproduct of the chromosome walking experiments aimed at characterizing the DMD locus. From human leukemic cells treated with dimethylformamide, which induces the NADPH-oxidase system and other constituents of granulocytic differentiation, <a href="#36" class="mim-tip-reference" title="Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., Orkin, S. H. <strong>Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.</strong> Nature 322: 32-38, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2425263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2425263</a>] [<a href="https://doi.org/10.1038/322032a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2425263">Royer-Pokora et al. (1986)</a> isolated a cDNA that was subjected to subtractive hybridization with RNA from a cell line of a patient with deletion of the CGD/DMD complex in Xp21. The subtracted radiolabeled cDNA was hybridized to a Southern blot of Xp21 bacteriophage clones. Two overlapping clones (pERT 379) showed hybridization. The transcript of the gene was expressed in the phagocytic lineage of hematopoietic cells and was absent or structurally abnormal in 4 patients with CGD. The nucleotide sequence of cDNA clones predicted a polypeptide of at least 468 amino acids with no homology to previously described proteins. Specifically, cytochrome b was excluded. Although a consistent finding in X-linked CGD is absence of the heme spectrum derived from cytochrome b, the authors suggested that the deficiency may be secondary to the primary genetic abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2425263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Dinauer, M., Parkos, C. A., Jesaitis, A. J., Orkin, S. H. <strong>Identification of the in vivo protein encoded by the gene mutated in X-linked chronic granulomatous disease (X-CGD). (Abstract)</strong> Clin. Res. 35: 598A only, 1987."None>Dinauer et al. (1987)</a> raised antibodies to a synthetic peptide derived from the cDNA sequence of the putative CGD gene. Western blot analysis detected a neutrophil protein of relative molecular mass 90 kD that was absent in CGD patients. Antisera also reacted with the larger component of cytochrome b purified from neutrophil plasma membranes as a complex of glycosylated 90-kD and nonglycosylated 22-kD polypeptides. <a href="#16" class="mim-tip-reference" title="Dinauer, M., Parkos, C. A., Jesaitis, A. J., Orkin, S. H. <strong>Identification of the in vivo protein encoded by the gene mutated in X-linked chronic granulomatous disease (X-CGD). (Abstract)</strong> Clin. Res. 35: 598A only, 1987."None>Dinauer et al. (1987)</a> proposed that one of the critical roles of the CGD protein in vivo is to interact with the 22-kD polypeptide to form a functional cytochrome b complex.</p><p>Cytochrome b(-245) is a heterodimer composed of an alpha chain of relative molecular mass 23 kD and a beta chain of 76 to 82 kD. <a href="#40" class="mim-tip-reference" title="Teahan, C., Rowe, P., Parker, P., Totty, N., Segal, A. W. <strong>The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b(-245).</strong> Nature 327: 720-721, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600769</a>] [<a href="https://doi.org/10.1038/327720a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3600769">Teahan et al. (1987)</a> purified the beta-chain protein of the cytochrome and sequenced 43 amino acids from the N terminus. Almost complete homology was obtained between this sequence and that of the complementary nucleotides 19-147 of the sequence of the CGD gene. <a href="#40" class="mim-tip-reference" title="Teahan, C., Rowe, P., Parker, P., Totty, N., Segal, A. W. <strong>The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b(-245).</strong> Nature 327: 720-721, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600769</a>] [<a href="https://doi.org/10.1038/327720a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3600769">Teahan et al. (1987)</a> pointed to work indicating that cytochrome b(-245) is missing from the cells of CGD patients; neither the alpha nor the beta subunits are detectable in neutrophils from CGD patients. <a href="#32" class="mim-tip-reference" title="Parkos, C. A., Allen, R. A., Cochrane, C. G., Jesaitis, A. J. <strong>Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000.</strong> J. Clin. Invest. 80: 732-742, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3305576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3305576</a>] [<a href="https://doi.org/10.1172/JCI113128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3305576">Parkos et al. (1987)</a> demonstrated that the purified cytochrome b from human granulocyte plasma membrane is composed of 2 polypeptides of relative molecular masses 91 kD and 22 kD, and noted that the 91-kD protein is affected in X-linked CGD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3600769+3305576" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Orkin, S. H. <strong>X-linked chronic granulomatous disease: from chromosomal position to the in vivo gene product.</strong> Trends Genet. 3: 149-151, 1987."None>Orkin (1987)</a> stated that unraveling the genetic basis of X-linked CGD was dependent not only on gene cloning based on chromosomal map position and preparation of antisera directed to a known protein, but also on the existence of complementary biochemical data which identified the unknown product as a component of the cytochrome b complex.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneFunction" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#23" class="mim-tip-reference" title="Jackson, S. H., Devadas, S., Kwon, J., Pinto, L. A., Williams, M. S. <strong>T cells express a phagocyte-type NADPH oxidase that is activated after T cell receptor stimulation.</strong> Nature Immun. 5: 818-827, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258578</a>] [<a href="https://doi.org/10.1038/ni1096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15258578">Jackson et al. (2004)</a> reported that activated mouse T cells deficient in either gp91-phox or p47-phox showed enhanced activation of Erk (see MAPK3; <a href="/entry/601795">601795</a>) and Mek (see MAP2K1; <a href="/entry/176872">176872</a>), diminished expression of phagocyte-type NADPH oxidase, and a relative increase in Th1-type cytokine secretion. They suggested that similar alterations may be found in patients with chronic granulomatous disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15258578" 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>Dendritic cells (DCs) present antigens from pathogens or infected cells to CD8 (see <a href="/entry/186910">186910</a>)-positive T cells after partial degradation of the antigens to 8- or 9-amino acid peptides, which is mediated by lysosomal proteases in an acidic environment. <a href="#37" class="mim-tip-reference" title="Savina, A., Jancic, C., Hugues, S., Guermonprez, P., Vargas, P., Moura, I. C., Lennon-Dumenil, A. M., Seabra, M. C., Raposo, G., Amigorena, S. <strong>NOX2 controls phagosomal pH to regulate antigen processing during crosspresentation by dendritic cells.</strong> Cell 126: 205-218, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16839887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16839887</a>] [<a href="https://doi.org/10.1016/j.cell.2006.05.035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16839887">Savina et al. (2006)</a> showed that DCs, but not macrophages, had an active machinery of phagosomal alkalinization that maintained the phagosomal pH between 7 and 7.5 for the first few hours after phagocytosis. Upon inactivation of the vacuolar ATPase (see <a href="/entry/607028">607028</a>), the phagosomal pH in DCs, but not macrophages, alkalinized strongly. Confocal microscopy demonstrated that NOX2 assembled on DC phagosomes in a gp91-phox subunit-dependent manner, and that reactive oxygen species were produced in a more sustained manner in immature DC phagosomes than in macrophage phagosomes. DCs obtained from mice lacking Nox2 due to deletion of gp91-phox displayed a rapid phagosomal acidification and increased antigen degradation, resulting in inefficient antigen crosspresentation. <a href="#37" class="mim-tip-reference" title="Savina, A., Jancic, C., Hugues, S., Guermonprez, P., Vargas, P., Moura, I. C., Lennon-Dumenil, A. M., Seabra, M. C., Raposo, G., Amigorena, S. <strong>NOX2 controls phagosomal pH to regulate antigen processing during crosspresentation by dendritic cells.</strong> Cell 126: 205-218, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16839887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16839887</a>] [<a href="https://doi.org/10.1016/j.cell.2006.05.035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16839887">Savina et al. (2006)</a> concluded that NOX2, a major player in innate immune responses in neutrophils, is also involved in adaptive immunity through its activity in DCs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16839887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Prosser, B. L., Ward, C. W., Lederer, W. J. <strong>X-ROS signaling: rapid mechano-chemo transduction in heart.</strong> Science 333: 1440-1445, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21903813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21903813</a>] [<a href="https://doi.org/10.1126/science.1202768" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21903813">Prosser et al. (2011)</a> reported that in heart cells, physiologic stretch rapidly activates reduced-form NOX2 to produce reactive oxygen species (ROS) in a process dependent on microtubules (X-ROS signaling). ROS production occurs in the sarcolemmal and t-tubule membranes where NOX2 is located and sensitizes nearby ryanodine receptors in the sarcoplasmic reticulum. This triggers a burst of Ca(2+) sparks, the elementary Ca(2+) release events in heart. Although this stretch-dependent 'tuning' of ryanodine receptors increases Ca(2+) signaling sensitivity in healthy cardiomyocytes, in disease it enables Ca(2+) sparks to trigger arrhythmogenic Ca(2+) waves. In the mouse model of Duchenne muscular dystrophy (<a href="/entry/310200">310200</a>), hyperactive X-ROS signaling contributes to cardiomyopathy through aberrant Ca(2+) release from the sarcoplasmic reticulum. <a href="#33" class="mim-tip-reference" title="Prosser, B. L., Ward, C. W., Lederer, W. J. <strong>X-ROS signaling: rapid mechano-chemo transduction in heart.</strong> Science 333: 1440-1445, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21903813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21903813</a>] [<a href="https://doi.org/10.1126/science.1202768" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21903813">Prosser et al. (2011)</a> concluded that X-ROS signaling thus provides a mechanistic explanation for the mechanotransduction of Ca(2+) release in the heart and offers fresh therapeutic possibilities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21903813" 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 microscopic analyses of transfected mouse macrophages and HEK293T cells, <a href="#41" class="mim-tip-reference" title="Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others. <strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong> J. Exp. Med. 214: 1111-1128, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28351984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28351984</a>] [<a href="https://doi.org/10.1084/jem.20161382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28351984">Thomas et al. (2017)</a> demonstrated that Eros (CYBC1; <a href="/entry/618334">618334</a>) colocalized in the endoplasmic reticulum (ER) with gp91phox and p22phox. Coimmunoprecipitation analysis showed that Eros interacted directly with gp91phox. Based on studies of neutrophils and macrophages from Eros -/- mice, the authors found that Eros was required for expression of gp91phox and p22phox, suggesting that Eros controls gp91phx and p22phox degradation in the ER. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>By positional cloning, <a href="#36" class="mim-tip-reference" title="Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., Orkin, S. H. <strong>Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.</strong> Nature 322: 32-38, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2425263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2425263</a>] [<a href="https://doi.org/10.1038/322032a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2425263">Royer-Pokora et al. (1986)</a> identified the CYBB gene at Xp21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2425263" 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="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 9/8/2014."None>Gross (2014)</a> mapped the CYBB gene to chromosome Xp11.4 based on an alignment of the CYBB sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF469769" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF469769</a>) with the genomic sequence (GRCh38).</p><p><a href="#3" class="mim-tip-reference" title="Brockdorff, N., Fisher, E. M. C., Orkin, S. H., Lyon, M. F., Brown, S. D. M. <strong>Localization of the human X-linked gene for chronic granulomatous disease to the mouse X chromosome: implications for X-chromosome evolution.</strong> Cytogenet. Cell Genet. 48: 124-125, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3197451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3197451</a>] [<a href="https://doi.org/10.1159/000132605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3197451">Brockdorff et al. (1988)</a> used the cloned CYBB gene to map the mouse homolog to the X chromosome in an interspecific Mus domesticus/M. spretus cross. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3197451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Chronic Granulomatous Disease, X-linked</em></strong></p><p>
|
|
In a male patient with the cytochrome b-positive variant of X-linked CGD (CGDX; <a href="/entry/306400">306400</a>), <a href="#13" class="mim-tip-reference" title="Dinauer, M. C., Curnutte, J. T., Rosen, H. R., Orkin, S. H. <strong>A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.</strong> J. Clin. Invest. 84: 2012-2016, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2556453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2556453</a>] [<a href="https://doi.org/10.1172/JCI114393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2556453">Dinauer et al. (1989)</a> identified a hemizygous missense mutation in the CYBB gene (P415H; <a href="#0001">300481.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2556453" 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 6 patients with X-linked CGD, both cytochrome b-negative and cytochrome b-positive forms, <a href="#2" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> identified 6 different point mutations in the CYBB gene (<a href="#0002">300481.0002</a>-<a href="#0007">300481.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" 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 remarkable family was described by <a href="#10" class="mim-tip-reference" title="de Boer, M., Bakker, E., Van Lierde, S., Roos, D. <strong>Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease.</strong> Blood 91: 252-257, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9414292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9414292</a>]" pmid="9414292">de Boer et al. (1998)</a> in which 2 brothers had CGD due to different mutations in the CYBB gene. One had a 3-kb deletion comprising exon 5 and the other a 3.5-kb deletion comprising exons 6 and 7. Sequence analysis of PCR-amplified genomic DNA showed that these deletions overlapped for 35 bp. Analysis by RFLP of genomic DNA from the mother's leukocytes showed her to be a carrier of both deletions in addition to the normal CYBB sequence, indicating triple somatic mosaicism. The presence of a normal CYBB gene in the mother was also proven by the finding of normal superoxide-generating neutrophils in addition to cells lacking this ability. Triple X syndrome was excluded. The finding suggested that the mutations resulted from an event in early embryogenesis in the mother, possibly involving a mechanism such as sister chromatid exchange. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9414292" 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="#27" class="mim-tip-reference" title="Noack, D., Heyworth, P. G., Kyono, W., Cross, A. R. <strong>A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease.</strong> Hum. Genet. 109: 234-238, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511930</a>] [<a href="https://doi.org/10.1007/s004390100551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511930">Noack et al. (2001)</a> described a second case of somatic triple mosaicism, the mutation in the patient being the insertion of 12 bp in intron 11, accompanied by the deletion of exon 12. The grandmother of this patient was chimeric, carrying a normal allele, the patient's allele, and an allele with a 4-nucleotide insertion at a site adjacent to the patient's insertion, in combination with a 1.5-kb deletion within intron 11. The patient's mother carried a normal allele and the patient's allele. <a href="#27" class="mim-tip-reference" title="Noack, D., Heyworth, P. G., Kyono, W., Cross, A. R. <strong>A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease.</strong> Hum. Genet. 109: 234-238, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511930</a>] [<a href="https://doi.org/10.1007/s004390100551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511930">Noack et al. (2001)</a> proposed that an initial mutational event during the grandmother's embryogenesis had undergone unsuccessful DNA repair and resulted in 2 aberrant alleles, 1 of which had been inherited by the patient and his mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511930" 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="#34" class="mim-tip-reference" title="Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T. <strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong> Am. J. Hum. Genet. 62: 1320-1331, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585602</a>] [<a href="https://doi.org/10.1086/301874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585602">Rae et al. (1998)</a> identified the mutations in the CYBB gene responsible for X-linked CGD in 131 consecutive independent kindreds. Screening by SSCP analysis identified mutations in 124 of the kindreds, and sequencing of all exons and intron boundary regions revealed the other 7 mutations. They detected 103 different specific mutations; no single mutation appeared in more than 7 independent kindreds. The types of mutations included large and small deletions (11%), frameshifts (24%), nonsense mutations (23%), missense mutations (23%), splice region mutations (17%), and regulatory-region mutations (2%). The distribution of mutations within the CYBB gene exhibited great heterogeneity, with no apparent mutation hotspots. Evaluation of 87 available mothers revealed X-linked carrier status in all but 10. The heterogeneity of mutations and the lack of any predominant genotype indicate that the disease represents many different mutational events, without a founder effect, as is expected for a disorder with a previously lethal phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Immunodeficiency 34</em></strong></p><p>
|
|
In 7 males from 2 kindreds with X-linked familial atypical mycobacteriosis (IMD34; <a href="/entry/300645">300645</a>), <a href="#5" class="mim-tip-reference" title="Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., de Beaucoudrey, L., Puel, A., and 18 others. <strong>Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculosis mycobacterial disease.</strong> Nature Immun. 12: 213-221, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21278736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21278736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21278736[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ni.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21278736">Bustamante et al. (2011)</a> identified missense mutations in the CYBB gene (<a href="#0022">300481.0022</a> and <a href="#0023">300481.0023</a>). All clinically affected males in both kindreds were hemizygous for the mutated allele, whereas other maternally related healthy males tested were not. All 11 obligate female carriers tested in the 2 kindreds were heterozygous for the mutated allele. <a href="#5" class="mim-tip-reference" title="Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., de Beaucoudrey, L., Puel, A., and 18 others. <strong>Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculosis mycobacterial disease.</strong> Nature Immun. 12: 213-221, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21278736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21278736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21278736[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ni.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21278736">Bustamante et al. (2011)</a> found that all affected males, as well as other family members, had normal NADPH oxidase activity in circulating neutrophils and monocytes, unlike individuals with CGD or variant CGD. However, in vitro differentiation of monocytes to macrophages in the presence of MCSF (CSF1; <a href="/entry/120420">120420</a>) revealed that NADPH oxidase activity was impaired in patient macrophages, and the ability to control the growth of bacillus Calmette-Guerin (BCG) was reduced. Impairment of NADPH oxidase activity was also demonstrable in patient B-cell lines. Immunoblot analysis showed reduced expression of CYBB in patient neutrophils and monocytes, with a much greater reduction in monocyte-derived macrophages. Immunohistochemistry showed impaired production of CYBB in patient lymph node macrophages. <a href="#5" class="mim-tip-reference" title="Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., de Beaucoudrey, L., Puel, A., and 18 others. <strong>Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculosis mycobacterial disease.</strong> Nature Immun. 12: 213-221, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21278736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21278736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21278736[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ni.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21278736">Bustamante et al. (2011)</a> concluded that the CYBB mutations in these 7 adult patients, who had no history of other granulomatous or infectious diseases, resulted in dysfunction of macrophages, but not in dysfunction of granulocytes or monocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21278736" 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>Enhanced redox stress and inflammation are associated with progression of amyotrophic lateral sclerosis (ALS; <a href="/entry/105400">105400</a>). <a href="#25" class="mim-tip-reference" title="Marden, J. J., Harraz, M. M., Williams, A. J., Nelson, K., Luo, M., Paulson, H., Engelhardt, J. F. <strong>Redox modifier genes in amyotrophic lateral sclerosis in mice.</strong> J. Clin. Invest. 117: 2913-2919, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17853944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17853944</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17853944[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/10.1172/JCI31265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17853944">Marden et al. (2007)</a> evaluated the effects of Nox1 (<a href="/entry/300225">300225</a>) or Nox2 deletion on transgenic mice overexpressing human SOD1 (<a href="/entry/147450">147450</a>) with the ALS-associated gly93-to-ala mutation (G93A; <a href="/entry/147450#0008">147450.0008</a>) by monitoring the onset and progression of disease using various indices. Disruption of either Nox1 or Nox2 significantly delayed progression of motor neuron disease in these mice. However, 50% survival rates were enhanced significantly more by Nox2 deletion than Nox1 deletion. Female mice lacking 1 copy of the X-chromosomal Nox1 or Nox2 genes also exhibited significantly increased survival rates, suggesting that in the setting of random X-inactivation, a 50% reduction in Nox1- or Nox2-expressing cells has a substantial therapeutic benefit in ALS mice. <a href="#25" class="mim-tip-reference" title="Marden, J. J., Harraz, M. M., Williams, A. J., Nelson, K., Luo, M., Paulson, H., Engelhardt, J. F. <strong>Redox modifier genes in amyotrophic lateral sclerosis in mice.</strong> J. Clin. Invest. 117: 2913-2919, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17853944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17853944</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17853944[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/10.1172/JCI31265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17853944">Marden et al. (2007)</a> concluded that NOX1 and NOX2 contribute to the progression of ALS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17853944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Deffert, C., Schappi, M. G., Pache, J.-C., Cachat, J., Vesin, D., Bisig, R., Ma Mulone, X.., Kelkka, T., Holmdahl, R., Garcia, I., Olleros, M. L., Krause, K.-H. <strong>Bacillus Calmette-Guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation.</strong> PLoS Pathog. 10: e1004325, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25188296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25188296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25188296[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/10.1371/journal.ppat.1004325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25188296">Deffert et al. (2014)</a> conducted a literature search that found nearly 300 cases of mycobacterial infection in CGD, principally caused by M. bovis BCG. The authors then investigated BCG infection in 3 different mouse models of CGD: 2 strains of mice lacking Ncf1 and mice lacking Cybb. All 3 CGD mouse strains were highly susceptible to intravenous BCG infection, manifest as severe weight loss, hemorrhagic pneumonia with high numbers of neutrophils, and 50% mortality. These mice had only moderately increased bacterial load. Macrophage-specific rescue of Cybb restored BCG resistance. ROS was generated in granulomas of wildtype mice, but not CGD mice. Massive increases in the release of the cytokines Tnf (<a href="/entry/191160">191160</a>), Ifng (<a href="/entry/147570">147570</a>), Il17 (<a href="/entry/603149">603149</a>), and Il12 (<a href="/entry/161561">161561</a>), as well as Cxcl1 (<a href="/entry/155730">155730</a>), a neutrophil chemoattractant, occurred early after infection in CGD mice, possibly explaining disease severity. Macrophages clustered in granulomas in wildtype mice, whereas macrophages were diffusely distributed in lungs of CGD mice. <a href="#12" class="mim-tip-reference" title="Deffert, C., Schappi, M. G., Pache, J.-C., Cachat, J., Vesin, D., Bisig, R., Ma Mulone, X.., Kelkka, T., Holmdahl, R., Garcia, I., Olleros, M. L., Krause, K.-H. <strong>Bacillus Calmette-Guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation.</strong> PLoS Pathog. 10: e1004325, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25188296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25188296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25188296[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/10.1371/journal.ppat.1004325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25188296">Deffert et al. (2014)</a> concluded that lack of NADPH oxidase leads to markedly increased severity of BCG infection through increased cytokine production and reduced granuloma formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25188296" 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>23 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/300481" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=300481[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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, PRO415HIS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854585 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854585;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=rs137854585" 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=rs137854585" 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=RCV000011667 OR RCV000059237 OR RCV001385155" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011667, RCV000059237, RCV001385155" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011667...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the variant form of cytochrome b-positive X-linked CGD (<a href="/entry/306400">306400</a>), <a href="#13" class="mim-tip-reference" title="Dinauer, M. C., Curnutte, J. T., Rosen, H. R., Orkin, S. H. <strong>A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.</strong> J. Clin. Invest. 84: 2012-2016, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2556453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2556453</a>] [<a href="https://doi.org/10.1172/JCI114393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2556453">Dinauer et al. (1989)</a> demonstrated a C-A transversion in the CYBB gene, resulting in a pro415-to-his (P415H) substitution in the mature protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2556453" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, GLY389ALA
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854586 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854586;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=rs137854586" 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=rs137854586" 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=RCV000011668 OR RCV000059232" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011668, RCV000059232" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011668...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with variant X-linked CGD (<a href="/entry/306400">306400</a>), in which there is some residual expression of cytochrome b, <a href="#2" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> identified a G-to-C transversion in the CYBB gene, resulting in a gly389-to-ala (G389A) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, HIS209TYR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854587 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854587;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=rs137854587" 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=rs137854587" 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=RCV000011669 OR RCV000059265" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011669, RCV000059265" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011669...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with classic CGD (<a href="/entry/306400">306400</a>), <a href="#2" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> identified a C-to-T change in the CYBB gene, resulting in a his209-to-tyr (H209Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, ARG73TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854588 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854588;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=rs137854588" 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=rs137854588" 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=RCV000011670 OR RCV000254770 OR RCV003398485" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011670, RCV000254770, RCV003398485" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011670...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with classic CGD (<a href="/entry/306400">306400</a>), <a href="#2" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> identified a nonsense mutation in the CYBB gene: a C-to-T change resulting in an arg73-to-ter (R73X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, CYS244SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854589 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854589;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=rs137854589" 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=rs137854589" 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=RCV000011671 OR RCV000059278" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011671, RCV000059278" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011671...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with variant CGD (<a href="/entry/306400">306400</a>), <a href="#2" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> identified a T-to-C transition in the CYBB gene, resulting in a cys244-to-ser (C244S) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, ALA156THR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854590;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=rs137854590" 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=rs137854590" 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=RCV000011672 OR RCV000059259 OR RCV003509481" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011672, RCV000059259, RCV003509481" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011672...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a variant form of CGD (<a href="/entry/306400">306400</a>), <a href="#2" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> identified a G-to-A transition in the CYBB gene, resulting in an ala156-to-thr (A156T) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, HIS101ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854591 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854591;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=rs137854591" 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=rs137854591" 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=RCV000011673 OR RCV000059257 OR RCV001192988" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011673, RCV000059257, RCV001192988" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011673...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a classic form of CGD (<a href="/entry/306400">306400</a>), <a href="#2" class="mim-tip-reference" title="Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D. <strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong> Blood 77: 2482-2487, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>]" pmid="1710153">Bolscher et al. (1991)</a> identified an A-to-G transition in the CYBB gene, resulting in a his101-to-arg (H101R) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, EX12DEL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2146821097 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2146821097;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=rs2146821097" 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=rs2146821097" 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=RCV000011675" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011675" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011675</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked CGD (<a href="/entry/306400">306400</a>), <a href="#38" class="mim-tip-reference" title="Schapiro, B. L., Newburger, P. E., Klempner, M. S., Dinauer, M. C. <strong>Chronic granulomatous disease presenting in a 69-year-old man.</strong> New Eng. J. Med. 325: 1786-1790, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719419</a>] [<a href="https://doi.org/10.1056/NEJM199112193252506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1719419">Schapiro et al. (1991)</a> identified a 30-nucleotide deletion involving nucleotides 1464-1491 (numbered according to the system of <a href="#30" class="mim-tip-reference" title="Orkin, S. H. <strong>Molecular genetics of chronic granulomatous disease.</strong> Annu. Rev. Immun. 7: 277-307, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2523713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2523713</a>] [<a href="https://doi.org/10.1146/annurev.iy.07.040189.001425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2523713">Orkin (1989)</a>) in the CYBB gene. The encoded polypeptide, normally composed of 570 amino acids, was predicted to lack residues 488-497. Since the deletion began precisely at the 5-prime end of exon 12 in the gp91-phox gene, mutation in the 3-prime splice acceptor site was suspected. An A-to-G mutation in the AG 3-prime acceptor dinucleotide was found. A downstream cryptic acceptor site in the coding sequence in exon 12 must have been used during mRNA splicing of the mutant gene. The patient was a 69-year-old white man who had been in excellent health without antecedent infections until a febrile illness with a blood culture positive for Pseudomonas cepacia. The family history was remarkable for a son of the man's daughter who had died at the age of 5 years from P. cepacia pneumonia complicating presumptive CGD. The good health of the grandfather may highlight the importance of oxygen-independent microbicidal pathways and of cytokines such as interferon gamma (<a href="/entry/147570">147570</a>) and granulocyte-macrophage colony-stimulating factor (<a href="/entry/138960">138960</a>) that can augment phagocyte function in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1719419+2523713" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, ARG226TER
|
|
</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> rs137854592 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854592;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/rs137854592?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=rs137854592" 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=rs137854592" 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=RCV000011676 OR RCV000523721 OR RCV001826456" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011676, RCV000523721, RCV001826456" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011676...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#9" class="mim-tip-reference" title="Curnutte, J. T., Hopkins, P. J., Kuhl, W., Beutler, E. <strong>Studying X inactivation. (Letter)</strong> Lancet 339: 749 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347621</a>] [<a href="https://doi.org/10.1016/0140-6736(92)90653-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1347621">Curnutte et al. (1992)</a> described a woman with X-linked CGD (<a href="/entry/306400">306400</a>), whose neutrophils failed to generate detectable levels of superoxide and were uniformly nonreactive in the nitroblue tetrazolium test. The patient was found to be heterozygous for a 688C-T change in the CYBB gene, resulting in an arg226-to-ter (R226X) nonsense mutation. This mutation was not present in either the mother or the father. The patient was also heterozygous for the G6PD polymorphism involving nucleotide 1311T or 1311C (<a href="/entry/305900#0018">305900.0018</a>). <a href="#9" class="mim-tip-reference" title="Curnutte, J. T., Hopkins, P. J., Kuhl, W., Beutler, E. <strong>Studying X inactivation. (Letter)</strong> Lancet 339: 749 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347621</a>] [<a href="https://doi.org/10.1016/0140-6736(92)90653-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1347621">Curnutte et al. (1992)</a> pointed out that this polymorphism affords a method of determining which X chromosome is active in a tissue by PCR amplification of cDNA. Since mRNA is made only from the active X chromosome, this method allows one to determine the ratio of activities of the X chromosomes in a tissue sample. In artificial mixtures of amplified cDNA, ratios as low as 1:20 were detected. Twenty to fifty percent of women of all races are heterozygous for the nucleotide 1311 polymorphism. Within the limits of the sensitivity of this method, all of the patient's granulocytes used only one of her X chromosomes for mRNA production, namely, the one contributed by the father. Since the mutation was absent from the father's somatic cells, it presumably represented a new mutation in the paternal germline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1347621" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, IVS3, G-A, +5
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1602175016 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1602175016;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=rs1602175016" 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=rs1602175016" 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=RCV000011677" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011677" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011677</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with chronic granulomatous disease (<a href="/entry/306400">306400</a>), <a href="#11" class="mim-tip-reference" title="de Boer, M., Bolscher, B. G. J. M., Sijmons, R. H., Scheffer, H., Weening, R. S., Roos, D. <strong>Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.</strong> Prenatal Diag. 12: 773-777, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1438069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1438069</a>] [<a href="https://doi.org/10.1002/pd.1970120910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1438069">de Boer et al. (1992)</a> demonstrated a G-to-A transition at the fifth base of the donor splice site of intron 3 of the CYBB gene, resulting in the skipping of exon 3. An expectant mother was diagnosed as a carrier. Analysis of PCR-amplified genomic DNA from a chorionic villus biopsy showed the same mutation in the male fetus. The diagnosis was confirmed by conventional methods after termination of the pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1438069" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, ASP500GLY
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854593 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854593;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=rs137854593" 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=rs137854593" 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=RCV000011678 OR RCV000059242" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011678, RCV000059242" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011678...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked CGD (<a href="/entry/306400">306400</a>), <a href="#24" class="mim-tip-reference" title="Leusen, J. H. W., de Boer, M., Bolscher, B. G. J. M., Hilarius, P. M., Weening, R. S., Ochs, H. D., Roos, D., Verhoeven, A. J. <strong>A point mutation in gp91-phox of cytochrome b(558) of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.</strong> J. Clin. Invest. 93: 2120-2126, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8182143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8182143</a>] [<a href="https://doi.org/10.1172/JCI117207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8182143">Leusen et al. (1994)</a> identified a 1511A-G transition in exon 15 of the CYBB gene, resulting in an asp500-to-gly (D500G) substitution. The mutation was associated with normal amounts of nonfunctional cytochrome b(558) in the patient's neutrophils. Asp-500 of gp91-phox resides in a region critical for stable binding of p47-phox and p67-phox. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8182143" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, HIS101TYR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854594 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854594;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=rs137854594" 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=rs137854594" 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=RCV000011679 OR RCV000059256 OR RCV001851796" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011679, RCV000059256, RCV001851796" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011679...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient diagnosed with X-linked chronic granulomatous disease (<a href="/entry/306400">306400</a>), <a href="#42" class="mim-tip-reference" title="Tsuda, M., Kaneda, M., Sakiyama, T., Inana, I., Owada, M., Kiryu, C., Shiraishi, T., Kakinuma, K. <strong>A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b(558) in atypical X-linked chronic granulomatous disease.</strong> Hum. Genet. 103: 377-381, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856476</a>] [<a href="https://doi.org/10.1007/s004390050836" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9856476">Tsuda et al. (1998)</a> reported a C-to-T transition in the CYBB gene, resulting in a his101-to-tyr (H101Y) substitution. The patient showed a complete absence of O(2)-forming NADPH oxidase activity, but immunoblot analysis detected p22-phox and gp91-phox at about 10% of control amounts. These results provided evidence that histidine-101 of gp91-phox is one of the heme-binding ligands of cytochrome-b(558). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856476" 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 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, 250GCG-GCA
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906485 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906485;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=rs387906485" 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=rs387906485" 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=RCV000011680 OR RCV000482302 OR RCV002504778" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011680, RCV000482302, RCV002504778" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011680...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#22" class="mim-tip-reference" title="Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I., Kanegasaki, S. <strong>Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.</strong> Hum. Genet. 106: 473-481, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10914676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10914676</a>] [<a href="https://doi.org/10.1007/s004390000288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10914676">Ishibashi et al. (2000)</a> found a splicing mutation in the CYBB gene in 2 brothers with CGD (<a href="/entry/306400">306400</a>). The last 3 nucleotides of exon 3 in converted from GCG to GCA, resulting in deletion of exon 3 in some of the mRNA. The ratio of expression of normally and alternatively spliced mRNA was found to be different between the proband and his affected brother. A total of 5 families with the same mutation had been reported from western countries (<a href="#35" class="mim-tip-reference" title="Roos, D., de Boer, M., Kuribayashi, F., Meischl, C., Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K., Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-Price, H. <strong>Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.</strong> Blood 87: 1663-1681, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634410</a>]" pmid="8634410">Roos et al., 1996</a>; <a href="#34" class="mim-tip-reference" title="Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T. <strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong> Am. J. Hum. Genet. 62: 1320-1331, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585602</a>] [<a href="https://doi.org/10.1086/301874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585602">Rae et al., 1998</a>), and from China (<a href="#20" class="mim-tip-reference" title="Hui, Y. F., Chan, S. Y., Lau, Y. L. <strong>Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.</strong> Blood 88: 4021-4028, 1996. Note: Erratum: Blood 89: 1843 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8916969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8916969</a>]" pmid="8916969">Hui et al., 1996</a>). The case reported by <a href="#34" class="mim-tip-reference" title="Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T. <strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong> Am. J. Hum. Genet. 62: 1320-1331, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585602</a>] [<a href="https://doi.org/10.1086/301874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585602">Rae et al. (1998)</a> had both normal and alternatively spliced mRNA sequences. Another patient with this same mutation was 37 years old at the time of report and had been comparatively well; his brother died of septicemia at the age of 9 years and his daughter had been diagnosed as a CGD carrier. On the basis of the work of <a href="#17" class="mim-tip-reference" title="Eissa, N. T., Strauss, A. J., Haggerty, C. M., Choo, E. K., Chu, S. C., Moss, J. <strong>Alternative splicing of human inducible nitric-oxide synthase mRNA. Tissue-specific regulation and induction by cytokines.</strong> J. Biol. Chem. 271: 27184-27187, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900212</a>] [<a href="https://doi.org/10.1074/jbc.271.43.27184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8900212">Eissa et al. (1996)</a>, <a href="#22" class="mim-tip-reference" title="Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I., Kanegasaki, S. <strong>Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.</strong> Hum. Genet. 106: 473-481, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10914676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10914676</a>] [<a href="https://doi.org/10.1007/s004390000288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10914676">Ishibashi et al. (2000)</a> raised the possibility that a cytokine affects the splicing efficiency or stabilization of mRNA of the CYBB gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8916969+10914676+9585602+8900212+8634410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0014" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, IN5, L1 INS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011681" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011681" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011681</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Long interspersed nuclear element-1 (LINE-1, or L1 elements; see <a href="/entry/151626">151626</a>) are DNA elements present in the genome in high copy number and are capable of active retrotransposition. <a href="#26" class="mim-tip-reference" title="Meischl, C., de Boer, M., Ahlin, A., Roos, D. <strong>A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease.</strong> Europ. J. Hum. Genet. 8: 697-703, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980575</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980575">Meischl et al. (2000)</a> stated that LINE-1 sequences had been implicated in 13 cases of human disease, in most instances due to insertion into the coding sequences of the affected genes. They described a patient with CGD (<a href="/entry/306400">306400</a>) caused by L1 insertion into an intronic sequence of the CYBB gene. Due to internal rearrangements, the insert in intron 5 introduced new splice sites. This resulted in a highly heterogeneous splicing pattern with introduction of 2 L1 fragments as new exons into the transcripts and concomitant skipping of exonic coding sequence. Because no wildtype cDNA was found, this mechanism was probably responsible for the patient's phenotype. The L1 fragment, which belonged to the Ta subset of transcriptionally active LINEs, illustrated a new mechanism by which these elements can modify the transcribed coding sequence of genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0015" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, 252G-A
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011680 OR RCV000482302 OR RCV002504778" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011680, RCV000482302, RCV002504778" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011680...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#21" class="mim-tip-reference" title="Ishibashi, F., Mizukami, T., Kanegasaki, S., Motoda, L., Kakinuma, R., Endo, F., Nunoi, H. <strong>Improved superoxide-generating ability by interferon-gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.</strong> Blood 98: 436-441, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435314</a>] [<a href="https://doi.org/10.1182/blood.v98.2.436" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435314">Ishibashi et al. (2001)</a> described a Japanese family in which 5 male cousins in 4 separate sibships, the sons of 4 sisters, had CGD (<a href="/entry/306400">306400</a>) and a 252G-A transition at the last nucleotide of exon 3 of the CYBB gene, changing the last codon from GCG to GCA. Although transcriptionally silent, the mutation interfered with splicing. Three of the cousins, aged 13, 17, and 16 years, were treated with 1 subcutaneous dose of interferon-gamma, which resulted in greatly increased neutrophil superoxide-generating ability and partial correction of abnormal splicing of the CYBB gene transcripts. Three of the descendants in this family had died young of severe bacterial infection, suggesting that they had CGD. The authors noted that an intractable acne vulgaris of the face in 2 patients disappeared after treatment with interferon-gamma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0016" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, HIS303ASN
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854595 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854595;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=rs137854595" 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=rs137854595" 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=RCV000011683 OR RCV000059279" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011683, RCV000059279" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011683...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#39" class="mim-tip-reference" title="Stasia, M. J., Lardy, B., Maturana, A., Rousseau, P., Martel, C., Bordigoni, P., Demaurex, N., Morel, F. <strong>Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.</strong> Biochim. Biophys. Acta 1586: 316-330, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11997083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11997083</a>] [<a href="https://doi.org/10.1016/s0925-4439(01)00110-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11997083">Stasia et al. (2002)</a> described 2 atypical cases of X-linked CGD (<a href="/entry/306400">306400</a>) in male first cousins in whom cytochrome b(558) was present at a normal level, but was not functional. The boys were 16 years old at the time of the study. One boy presented at the age of 9 months with a reaction due to Calmette-Guerin bacillus (BCG) with associated axillary lymphadenitis. At the age of 8 years, he developed a liver abscess caused by S. aureus and CGD was diagnosed by the absence of NBT reduction in neutrophils. The NBT slide test gave normal results in the father and intermediate values in the mother, both of whom were in good health. The maternal first cousin presented with a similar clinical history, and CGD was diagnosed at the age of 8 years. <a href="#39" class="mim-tip-reference" title="Stasia, M. J., Lardy, B., Maturana, A., Rousseau, P., Martel, C., Bordigoni, P., Demaurex, N., Morel, F. <strong>Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.</strong> Biochim. Biophys. Acta 1586: 316-330, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11997083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11997083</a>] [<a href="https://doi.org/10.1016/s0925-4439(01)00110-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11997083">Stasia et al. (2002)</a> identified 2 base substitutions in the CYBB gene, 919C-A and 923C-G, resulting in his303-to-asn (H303N) and pro304-to-arg (P304R; <a href="#0017">300481.0017</a>) changes in the C-terminal tail of the protein. The mothers of the cousins had both wildtype and mutated alleles. FAD was present in normal amounts in neutrophil membranes, both in the patients and their parents. The mutated gp91-phox still functioned as a proton channel; however, association of the cytosolic factors p47-phox and p67-phox with the membrane fraction was strongly disrupted. <a href="#39" class="mim-tip-reference" title="Stasia, M. J., Lardy, B., Maturana, A., Rousseau, P., Martel, C., Bordigoni, P., Demaurex, N., Morel, F. <strong>Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.</strong> Biochim. Biophys. Acta 1586: 316-330, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11997083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11997083</a>] [<a href="https://doi.org/10.1016/s0925-4439(01)00110-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11997083">Stasia et al. (2002)</a> concluded that residues 303 and 304 are crucial for the stable assembly of the NADPH oxidase complex and for electron transfer, but not for its proton channel activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11997083" 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 stably transfected PLB-985 cells, <a href="#1" class="mim-tip-reference" title="Bionda, C., Li, X. J., van Bruggen, R., Eppink, M., Roos, D., Morel, F., Stasia, M.-J. <strong>Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b(558)-positive chronic granulomatous disease by means of transgenic PLB-985 cells.</strong> Hum. Genet. 115: 418-427, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15338276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15338276</a>] [<a href="https://doi.org/10.1007/s00439-004-1173-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15338276">Bionda et al. (2004)</a> demonstrated that the H303N mutation completely inhibited NADPH oxidase activity, whereas the P304R mutation reduced it to 4% of wildtype activity. NADPH oxidase assembly was abolished in H303N mutant cells, but the translocation was only attenuated in P304R mutants. <a href="#1" class="mim-tip-reference" title="Bionda, C., Li, X. J., van Bruggen, R., Eppink, M., Roos, D., Morel, F., Stasia, M.-J. <strong>Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b(558)-positive chronic granulomatous disease by means of transgenic PLB-985 cells.</strong> Hum. Genet. 115: 418-427, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15338276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15338276</a>] [<a href="https://doi.org/10.1007/s00439-004-1173-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15338276">Bionda et al. (2004)</a> concluded that neither mutation is a polymorphism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15338276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0017" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, PRO304ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137854596 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137854596;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=rs137854596" 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=rs137854596" 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=RCV000011674 OR RCV000059280" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011674, RCV000059280" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011674...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See <a href="#0016">300481.0016</a>, <a href="#39" class="mim-tip-reference" title="Stasia, M. J., Lardy, B., Maturana, A., Rousseau, P., Martel, C., Bordigoni, P., Demaurex, N., Morel, F. <strong>Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.</strong> Biochim. Biophys. Acta 1586: 316-330, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11997083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11997083</a>] [<a href="https://doi.org/10.1016/s0925-4439(01)00110-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11997083">Stasia et al. (2002)</a>, and <a href="#1" class="mim-tip-reference" title="Bionda, C., Li, X. J., van Bruggen, R., Eppink, M., Roos, D., Morel, F., Stasia, M.-J. <strong>Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b(558)-positive chronic granulomatous disease by means of transgenic PLB-985 cells.</strong> Hum. Genet. 115: 418-427, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15338276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15338276</a>] [<a href="https://doi.org/10.1007/s00439-004-1173-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15338276">Bionda et al. (2004)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11997083+15338276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0018" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, IVS5, G-T, +978
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2146810847 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2146810847;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=rs2146810847" 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=rs2146810847" 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=RCV000011684" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011684" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011684</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-month-old boy with chronic granulomatous disease (<a href="/entry/306400">306400</a>) manifested by neutrophils that failed to reduce NBT and a history of otitis media, <a href="#28" class="mim-tip-reference" title="Noack, D., Heyworth, P. G., Newburger, P. E., Cross, A. R. <strong>An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.</strong> Biochim. Biophys. Acta 1537: 125-131, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11566256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11566256</a>] [<a href="https://doi.org/10.1016/s0925-4439(01)00065-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11566256">Noack et al. (2001)</a> identified an unusual intronic mutation in the CYBB gene: a 978G-T transversion in intron 5 that created a novel 5-prime splice site and resulted in multiple abnormal mRNA products. His mother had a lifelong history of chronic skin abscesses and was originally diagnosed as having autosomal recessive CGD (<a href="/entry/233690">233690</a>) as a child. As an adult, she was found to have 15% positive cells in the NBT test and 10% positive by dihydrorhodamine flow cytometry, suggestive of a carrier of X-linked CGD with skewed X inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11566256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0019" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, EX4, L1 INS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000011685" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011685" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011685</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch male patient with chronic granulomatous disease (<a href="/entry/306400">306400</a>), <a href="#4" class="mim-tip-reference" title="Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D., Kazazian, H. H., Jr. <strong>Evidence consistent with human L1 retrotransposition in maternal meiosis I.</strong> Am. J. Hum. Genet. 71: 327-336, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12094329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12094329</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12094329[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/341722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12094329">Brouha et al. (2002)</a> identified an insertion of an L1 retrotransposable element from the site of the precursor L1 locus on 2q24.1, which they called LRE3, into exon 4 of the CYBB gene. They used a unique polymorphic C-prime transduction to show that the L1 retrotransposition event most likely occurred in the maternal primary oocyte during meiosis I. More than half of recent human L1 insertions have occurred in only 3 genes: CYBB, factor VIII (<a href="/entry/300841">300841</a>), and dystrophin (DMD; <a href="/entry/300377">300377</a>) (<a href="#31" class="mim-tip-reference" title="Ostertag, E. M., Kazazian, H. H., Jr. <strong>Biology of mammalian L1 retrotransposons.</strong> Annu. Rev. Genet. 35: 501-538, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11700292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11700292</a>] [<a href="https://doi.org/10.1146/annurev.genet.35.102401.091032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11700292">Ostertag and Kazazian, 2001</a>). <a href="#4" class="mim-tip-reference" title="Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D., Kazazian, H. H., Jr. <strong>Evidence consistent with human L1 retrotransposition in maternal meiosis I.</strong> Am. J. Hum. Genet. 71: 327-336, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12094329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12094329</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12094329[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/341722" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12094329">Brouha et al. (2002)</a> stated that it was undetermined whether these 3 genes are L1 hotspots or whether this seeming cluster of L1 activity is the result of an ascertainment bias. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11700292+12094329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0020" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, IVS1, T-C, +6
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1569478551 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1569478551;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=rs1569478551" 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=rs1569478551" 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=RCV000011686" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011686" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011686</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked CGD (<a href="/entry/306400">306400</a>) first reported by <a href="#18" class="mim-tip-reference" title="Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E. <strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong> New Eng. J. Med. 319: 146-151, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>] [<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2838754">Ezekowitz et al. (1988)</a>, <a href="#34" class="mim-tip-reference" title="Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T. <strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong> Am. J. Hum. Genet. 62: 1320-1331, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585602</a>] [<a href="https://doi.org/10.1086/301874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585602">Rae et al. (1998)</a> identified a T-to-C change in the 5-prime splice site of intron 1 of the CYBB gene, resulting in a diminished level of p91-phox. In this patient, <a href="#18" class="mim-tip-reference" title="Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E. <strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong> New Eng. J. Med. 319: 146-151, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>] [<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2838754">Ezekowitz et al. (1988)</a> found that interferon-gamma (IFNG; <a href="/entry/147570">147570</a>), an activator of phagocytes, resulted in a 5- to 10-fold increase in superoxide production by granulocytes and monocytes, a proportionate rise in granulocyte bactericidal activity, and an increase in the cellular contents of phagocyte cytochrome b and immunoreactive cytochrome b heavy chain. In other CGD group studies, however, no apparent increases in phagocyte superoxide generation were observed. For that reason, the patient studied by <a href="#18" class="mim-tip-reference" title="Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E. <strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong> New Eng. J. Med. 319: 146-151, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>] [<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2838754">Ezekowitz et al. (1988)</a> was considered to be an exceptional case. <a href="#8" class="mim-tip-reference" title="Condino-Neto, A., Newburger, P. E. <strong>Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation.</strong> Blood 95: 3548-3554, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828042</a>]" pmid="10828042">Condino-Neto and Newburger (2000)</a> proposed that IFN-gamma improved the splicing efficiency of CYBB gene transcripts in that patient and corrected a nuclear processing defect due to the intronic mutation by augmenting nuclear export of normal transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2838754+9585602+10828042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0021" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, SOMATIC MOSAIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, 90CCG-GGT
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906486 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906486;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=rs387906486" 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=rs387906486" 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=RCV000011687" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000011687" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000011687</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 80-year-old woman of Iraqi origin with CGD (<a href="/entry/306400">306400</a>), <a href="#43" class="mim-tip-reference" title="Wolach, B., Scharf, Y., Gavrieli, R., de Boer, M., Roos, D. <strong>Unusual last presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.</strong> Blood 105: 61-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15308575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15308575</a>] [<a href="https://doi.org/10.1182/blood-2004-02-0675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15308575">Wolach et al. (2005)</a> identified a novel somatic mutation in the CYBB gene in heterozygous form: in the sequence 88-93TACCGG, nucleotides CCG were changed to GGT, resulting in tyr30-to-ter (Y30X) and arg31-to-val (R31V) substitutions. In the patient's leukocytes, the nonmutated CYBB allele had apparently been inactivated. Only 0.4 to 2% of her neutrophils showed NADPH oxidase activity. This extreme skewing of X-chromosome inactivation was not found in cheek mucosal cells where the CYBB mutation was not present. The mutation was barely detectable in the DNA from memory T lymphocytes. <a href="#43" class="mim-tip-reference" title="Wolach, B., Scharf, Y., Gavrieli, R., de Boer, M., Roos, D. <strong>Unusual last presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.</strong> Blood 105: 61-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15308575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15308575</a>] [<a href="https://doi.org/10.1182/blood-2004-02-0675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15308575">Wolach et al. (2005)</a> concluded that this patient showed somatic mosaicism for the CYBB mutation, which probably originated during her lifetime in her bone marrow. The patient had had a normal and healthy life until age 66. Thereafter, she underwent about 30 hospitalizations within 8 years, for Serratia marcescens sepsis, recurrent pneumonia (5 times) and sinusitis (2 times), Staphylococcal aureus pretibial abscess, Acinetobacter skin abscess, Escherichia coli and Candida albicans urinary tract infections, Providentia osteomyelitis and septic arthritis, suppurative adenitis, liver cysts and calcified lesions, panuveitis, anthralgia, vaginal ulcers, aphthous stomatitis, pyoderma gangrenosum, and vasculitis-like skin rash on face and limbs. After the diagnosis of chronic granulomatous disease was established at the age of 74 years, she was successfully treated with trimethoprim-sulfamethoxazole on a prophylactic daily basis, and no more hospitalizations or relevant infections occurred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15308575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0022" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 IMMUNODEFICIENCY 34</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, GLU231PRO
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs151344498 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs151344498;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=rs151344498" 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=rs151344498" 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=RCV000022861 OR RCV000059275 OR RCV000208611" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022861, RCV000059275, RCV000208611" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022861...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 maternally related French males with X-linked familial atypical mycobacteriosis (IMD34; <a href="/entry/300645">300645</a>) previously reported by <a href="#6" class="mim-tip-reference" title="Bustamante, J., Picard, C., Fieschi, C., Filipe-Santos, O., Feinberg, J., Perronne, C., Chapgier, A., de Beaucoudrey, L., Vogt, G., Sanlaville, D., Lemainque, A., Emile, J.-F., Abel, L., Casanova, J.-L. <strong>A novel X-linked recessive form of Mendelian susceptibility to mycobacterial disease.</strong> J. Med. Genet. 44: e65, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17293536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17293536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17293536[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.043406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17293536">Bustamante et al. (2007)</a>, <a href="#5" class="mim-tip-reference" title="Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., de Beaucoudrey, L., Puel, A., and 18 others. <strong>Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculosis mycobacterial disease.</strong> Nature Immun. 12: 213-221, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21278736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21278736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21278736[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ni.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21278736">Bustamante et al. (2011)</a> identified an A-to-C transversion in exon 7 of the CYBB gene that resulted in a glu231-to-pro (Q231P) substitution in the third extracellular loop of the protein. The mutation resulted in an impaired respiratory burst in macrophages, but not in granulocytes or monocytes. Three of the patients had BCG disease, and 1, who had not been vaccinated with BCG, had tuberculosis. The patients were otherwise healthy, with no clinical chronic granulomatous disease (CGD; <a href="/entry/306400">306400</a>), a finding confirmed by laboratory tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17293536+21278736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0023" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 IMMUNODEFICIENCY 34</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
CYBB, THR178PRO
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs151344497 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs151344497;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=rs151344497" 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=rs151344497" 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=RCV000022862 OR RCV000059260 OR RCV000208608" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022862, RCV000059260, RCV000208608" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022862...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 maternally related French males with X-linked familial atypical mycobacteriosis (IMD34; <a href="/entry/300645">300645</a>), <a href="#5" class="mim-tip-reference" title="Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., de Beaucoudrey, L., Puel, A., and 18 others. <strong>Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculosis mycobacterial disease.</strong> Nature Immun. 12: 213-221, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21278736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21278736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21278736[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ni.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21278736">Bustamante et al. (2011)</a> identified an A-to-C transversion in exon 6 of the CYBB gene that resulted in a thr178-to-pro (T178P) substitution in the transmembrane region of the protein. The mutation resulted in an impaired respiratory burst in macrophages, but not in granulocytes or monocytes. All 3 patients had BCG disease. They were otherwise healthy, with no clinical chronic granulomatous disease (CGD; <a href="/entry/306400">306400</a>), a finding confirmed by laboratory tests. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21278736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Carson1965" class="mim-tip-reference" title="Carson, M. J., Chadwick, D. L., Brubaker, C. A., Cleland, R. S., Landing, B. H. <strong>Thirteen boys with progressive septic granulomatosis.</strong> Pediatrics 35: 405-412, 1965.">Carson et al. (1965)</a>; <a href="#Dinauer1987" class="mim-tip-reference" title="Dinauer, M., Parkos, C. A., Jesaitis, A. J., Orkin, S. H. <strong>Identification of the in vivo protein encoded by the gene mutated in X-linked chronic granulomatous disease (X-CGD). (Abstract)</strong> Clin. Res. 35: 598A only, 1987.">Dinauer et al. (1987)</a>; <a href="#Dinauer1988" class="mim-tip-reference" title="Dinauer, M. C., Orkin, S. H. <strong>Chronic granulomatous disease: molecular genetics.</strong> Hemat. Oncol. Clin. North Am. 2: 225-240, 1988.">Dinauer and Orkin (1988)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Bionda2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bionda, C., Li, X. J., van Bruggen, R., Eppink, M., Roos, D., Morel, F., Stasia, M.-J.
|
|
<strong>Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b(558)-positive chronic granulomatous disease by means of transgenic PLB-985 cells.</strong>
|
|
Hum. Genet. 115: 418-427, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15338276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15338276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15338276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-004-1173-z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bolscher1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D.
|
|
<strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong>
|
|
Blood 77: 2482-2487, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1710153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1710153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1710153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Brockdorff1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brockdorff, N., Fisher, E. M. C., Orkin, S. H., Lyon, M. F., Brown, S. D. M.
|
|
<strong>Localization of the human X-linked gene for chronic granulomatous disease to the mouse X chromosome: implications for X-chromosome evolution.</strong>
|
|
Cytogenet. Cell Genet. 48: 124-125, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3197451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3197451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3197451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000132605" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Brouha2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D., Kazazian, H. H., Jr.
|
|
<strong>Evidence consistent with human L1 retrotransposition in maternal meiosis I.</strong>
|
|
Am. J. Hum. Genet. 71: 327-336, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12094329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12094329</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12094329[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=12094329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/341722" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Bustamante2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., de Beaucoudrey, L., Puel, A., and 18 others.
|
|
<strong>Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculosis mycobacterial disease.</strong>
|
|
Nature Immun. 12: 213-221, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21278736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21278736</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21278736[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=21278736" 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/ni.1992" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Bustamante2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bustamante, J., Picard, C., Fieschi, C., Filipe-Santos, O., Feinberg, J., Perronne, C., Chapgier, A., de Beaucoudrey, L., Vogt, G., Sanlaville, D., Lemainque, A., Emile, J.-F., Abel, L., Casanova, J.-L.
|
|
<strong>A novel X-linked recessive form of Mendelian susceptibility to mycobacterial disease.</strong>
|
|
J. Med. Genet. 44: e65, 2007. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17293536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17293536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17293536[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=17293536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.2006.043406" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Carson1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carson, M. J., Chadwick, D. L., Brubaker, C. A., Cleland, R. S., Landing, B. H.
|
|
<strong>Thirteen boys with progressive septic granulomatosis.</strong>
|
|
Pediatrics 35: 405-412, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14258653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14258653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14258653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Condino-Neto2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Condino-Neto, A., Newburger, P. E.
|
|
<strong>Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation.</strong>
|
|
Blood 95: 3548-3554, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10828042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Curnutte1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Curnutte, J. T., Hopkins, P. J., Kuhl, W., Beutler, E.
|
|
<strong>Studying X inactivation. (Letter)</strong>
|
|
Lancet 339: 749 only, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1347621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(92)90653-k" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="de Boer1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
de Boer, M., Bakker, E., Van Lierde, S., Roos, D.
|
|
<strong>Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease.</strong>
|
|
Blood 91: 252-257, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9414292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9414292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9414292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="de Boer1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
de Boer, M., Bolscher, B. G. J. M., Sijmons, R. H., Scheffer, H., Weening, R. S., Roos, D.
|
|
<strong>Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.</strong>
|
|
Prenatal Diag. 12: 773-777, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1438069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1438069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1438069" 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/pd.1970120910" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Deffert2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Deffert, C., Schappi, M. G., Pache, J.-C., Cachat, J., Vesin, D., Bisig, R., Ma Mulone, X.., Kelkka, T., Holmdahl, R., Garcia, I., Olleros, M. L., Krause, K.-H.
|
|
<strong>Bacillus Calmette-Guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation.</strong>
|
|
PLoS Pathog. 10: e1004325, 2014. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25188296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25188296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25188296[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=25188296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1371/journal.ppat.1004325" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Dinauer1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Curnutte, J. T., Rosen, H. R., Orkin, S. H.
|
|
<strong>A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 84: 2012-2016, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2556453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2556453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2556453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI114393" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Dinauer1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Orkin, S. H., Brown, R., Jesaitis, A. J., Parkos, C. A.
|
|
<strong>The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.</strong>
|
|
Nature 327: 717-720, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600768</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3600768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/327717a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Dinauer1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Orkin, S. H.
|
|
<strong>Chronic granulomatous disease: molecular genetics.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 225-240, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3292508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3292508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3292508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Dinauer1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dinauer, M., Parkos, C. A., Jesaitis, A. J., Orkin, S. H.
|
|
<strong>Identification of the in vivo protein encoded by the gene mutated in X-linked chronic granulomatous disease (X-CGD). (Abstract)</strong>
|
|
Clin. Res. 35: 598A only, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Eissa1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eissa, N. T., Strauss, A. J., Haggerty, C. M., Choo, E. K., Chu, S. C., Moss, J.
|
|
<strong>Alternative splicing of human inducible nitric-oxide synthase mRNA. Tissue-specific regulation and induction by cytokines.</strong>
|
|
J. Biol. Chem. 271: 27184-27187, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900212</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8900212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.271.43.27184" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Ezekowitz1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E.
|
|
<strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong>
|
|
New Eng. J. Med. 319: 146-151, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2838754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2838754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2838754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198807213190305" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Gross2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 9/8/2014.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Hui1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hui, Y. F., Chan, S. Y., Lau, Y. L.
|
|
<strong>Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.</strong>
|
|
Blood 88: 4021-4028, 1996. Note: Erratum: Blood 89: 1843 only, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8916969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8916969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8916969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Ishibashi2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ishibashi, F., Mizukami, T., Kanegasaki, S., Motoda, L., Kakinuma, R., Endo, F., Nunoi, H.
|
|
<strong>Improved superoxide-generating ability by interferon-gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.</strong>
|
|
Blood 98: 436-441, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435314</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1182/blood.v98.2.436" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Ishibashi2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I., Kanegasaki, S.
|
|
<strong>Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.</strong>
|
|
Hum. Genet. 106: 473-481, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10914676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10914676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10914676" 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/s004390000288" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Jackson2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jackson, S. H., Devadas, S., Kwon, J., Pinto, L. A., Williams, M. S.
|
|
<strong>T cells express a phagocyte-type NADPH oxidase that is activated after T cell receptor stimulation.</strong>
|
|
Nature Immun. 5: 818-827, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15258578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15258578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15258578" 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/ni1096" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Leusen1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leusen, J. H. W., de Boer, M., Bolscher, B. G. J. M., Hilarius, P. M., Weening, R. S., Ochs, H. D., Roos, D., Verhoeven, A. J.
|
|
<strong>A point mutation in gp91-phox of cytochrome b(558) of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.</strong>
|
|
J. Clin. Invest. 93: 2120-2126, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8182143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8182143</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8182143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI117207" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Marden2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marden, J. J., Harraz, M. M., Williams, A. J., Nelson, K., Luo, M., Paulson, H., Engelhardt, J. F.
|
|
<strong>Redox modifier genes in amyotrophic lateral sclerosis in mice.</strong>
|
|
J. Clin. Invest. 117: 2913-2919, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17853944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17853944</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17853944[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=17853944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI31265" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Meischl2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meischl, C., de Boer, M., Ahlin, A., Roos, D.
|
|
<strong>A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease.</strong>
|
|
Europ. J. Hum. Genet. 8: 697-703, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200523" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Noack2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Noack, D., Heyworth, P. G., Kyono, W., Cross, A. R.
|
|
<strong>A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease.</strong>
|
|
Hum. Genet. 109: 234-238, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511930" 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/s004390100551" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Noack2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Noack, D., Heyworth, P. G., Newburger, P. E., Cross, A. R.
|
|
<strong>An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.</strong>
|
|
Biochim. Biophys. Acta 1537: 125-131, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11566256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11566256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11566256" 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(01)00065-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Orkin1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>X-linked chronic granulomatous disease: from chromosomal position to the in vivo gene product.</strong>
|
|
Trends Genet. 3: 149-151, 1987.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Orkin1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>Molecular genetics of chronic granulomatous disease.</strong>
|
|
Annu. Rev. Immun. 7: 277-307, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2523713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2523713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2523713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1146/annurev.iy.07.040189.001425" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Ostertag2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ostertag, E. M., Kazazian, H. H., Jr.
|
|
<strong>Biology of mammalian L1 retrotransposons.</strong>
|
|
Annu. Rev. Genet. 35: 501-538, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11700292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11700292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11700292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1146/annurev.genet.35.102401.091032" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Parkos1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Parkos, C. A., Allen, R. A., Cochrane, C. G., Jesaitis, A. J.
|
|
<strong>Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000.</strong>
|
|
J. Clin. Invest. 80: 732-742, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3305576/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3305576</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3305576" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI113128" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Prosser2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Prosser, B. L., Ward, C. W., Lederer, W. J.
|
|
<strong>X-ROS signaling: rapid mechano-chemo transduction in heart.</strong>
|
|
Science 333: 1440-1445, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21903813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21903813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21903813" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.1202768" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Rae1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T.
|
|
<strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong>
|
|
Am. J. Hum. Genet. 62: 1320-1331, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301874" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Roos1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roos, D., de Boer, M., Kuribayashi, F., Meischl, C., Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K., Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-Price, H.
|
|
<strong>Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.</strong>
|
|
Blood 87: 1663-1681, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8634410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Royer-Pokora1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., Orkin, S. H.
|
|
<strong>Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.</strong>
|
|
Nature 322: 32-38, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2425263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2425263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2425263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/322032a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Savina2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Savina, A., Jancic, C., Hugues, S., Guermonprez, P., Vargas, P., Moura, I. C., Lennon-Dumenil, A. M., Seabra, M. C., Raposo, G., Amigorena, S.
|
|
<strong>NOX2 controls phagosomal pH to regulate antigen processing during crosspresentation by dendritic cells.</strong>
|
|
Cell 126: 205-218, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16839887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16839887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16839887" 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.cell.2006.05.035" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Schapiro1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schapiro, B. L., Newburger, P. E., Klempner, M. S., Dinauer, M. C.
|
|
<strong>Chronic granulomatous disease presenting in a 69-year-old man.</strong>
|
|
New Eng. J. Med. 325: 1786-1790, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1719419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1719419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1719419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199112193252506" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Stasia2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stasia, M. J., Lardy, B., Maturana, A., Rousseau, P., Martel, C., Bordigoni, P., Demaurex, N., Morel, F.
|
|
<strong>Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.</strong>
|
|
Biochim. Biophys. Acta 1586: 316-330, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11997083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11997083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11997083" 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(01)00110-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Teahan1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Teahan, C., Rowe, P., Parker, P., Totty, N., Segal, A. W.
|
|
<strong>The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b(-245).</strong>
|
|
Nature 327: 720-721, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3600769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3600769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3600769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/327720a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Thomas2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others.
|
|
<strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong>
|
|
J. Exp. Med. 214: 1111-1128, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28351984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28351984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28351984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1084/jem.20161382" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Tsuda1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tsuda, M., Kaneda, M., Sakiyama, T., Inana, I., Owada, M., Kiryu, C., Shiraishi, T., Kakinuma, K.
|
|
<strong>A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b(558) in atypical X-linked chronic granulomatous disease.</strong>
|
|
Hum. Genet. 103: 377-381, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9856476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9856476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9856476" 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/s004390050836" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Wolach2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wolach, B., Scharf, Y., Gavrieli, R., de Boer, M., Roos, D.
|
|
<strong>Unusual last presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.</strong>
|
|
Blood 105: 61-66, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15308575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15308575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15308575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1182/blood-2004-02-0675" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 07/02/2020
|
|
</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">
|
|
Bao Lige - updated : 02/19/2019<br>Paul J. Converse - updated : 10/1/2014<br>Matthew B. Gross - updated : 9/8/2014<br>Ada Hamosh - updated : 11/22/2011<br>Paul J. Converse - updated : 6/14/2011<br>Patricia A. Hartz - updated : 3/3/2008<br>Paul J. Converse - updated : 2/20/2007<br>Paul J. Converse - updated : 10/27/2005<br>Marla J. F. O'Neill - updated : 4/25/2005<br>Victor A. McKusick - updated : 3/21/2005
|
|
</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">
|
|
Cassandra L. Kniffin : 3/2/2004
|
|
</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 : 07/07/2020
|
|
</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">
|
|
ckniffin : 07/02/2020<br>carol : 01/09/2020<br>mgross : 02/19/2019<br>alopez : 10/14/2016<br>carol : 01/29/2015<br>mgross : 10/3/2014<br>mgross : 10/3/2014<br>mcolton : 10/1/2014<br>mgross : 9/8/2014<br>terry : 11/13/2012<br>alopez : 11/29/2011<br>terry : 11/22/2011<br>mgross : 8/18/2011<br>terry : 6/14/2011<br>carol : 4/7/2011<br>terry : 11/25/2009<br>mgross : 3/3/2008<br>mgross : 2/21/2007<br>mgross : 2/20/2007<br>mgross : 11/7/2005<br>terry : 10/27/2005<br>terry : 8/3/2005<br>wwang : 4/29/2005<br>wwang : 4/27/2005<br>terry : 4/25/2005<br>carol : 3/30/2005<br>wwang : 3/24/2005<br>terry : 3/21/2005<br>carol : 3/15/2004<br>ckniffin : 3/15/2004<br>carol : 3/12/2004<br>terry : 3/12/2004<br>ckniffin : 3/11/2004
|
|
</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> 300481
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CYTOCHROME b(-245), BETA SUBUNIT; CYBB
|
|
|
|
</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">
|
|
CYTOCHROME b(558), BETA SUBUNIT<br />
|
|
p91-PHOX<br />
|
|
NADPH OXIDASE 2; NOX2<br />
|
|
GP91-1
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CYBB</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: Xp21.1-p11.4
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : X:37,780,059-37,813,461 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
Xp21.1-p11.4
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Chronic granulomatous disease, X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
306400
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Immunodeficiency 34, mycobacteriosis, X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300645
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Cytochrome b(-245) is a heterodimer of the p91-phox beta polypeptide (CYBB) (phox for phagocyte oxidase) and a smaller p22-phox alpha polypeptide (CYBA; 608508).</p><p>Cytochrome b(-245) is an essential component of phagocytic NADPH-oxidase (see NOX1, 300225), a membrane-bound enzyme complex that generates large quantities of microbicidal superoxide and other oxidants upon activation. Active NADPH oxidase also requires several cytosolic proteins, including p47-phox (NCF1; 608512), p67-phox (233710), p40-phox (NCF4; 601488), and a GTP-binding protein, either RAC1 (602048) in macrophages or RAC2 (602049) in neutrophils (Leusen et al., 1994). This cytochrome b has a very low midpoint potential of -245 mV and a characteristic spectrophotometric absorption band at 558 nm, and is also known as cytochrome b(558). The CYBB gene product has also been referred to as cgd91-phox (Schapiro et al., 1991). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In what may be the first example of 'reverse genetics,' later more appropriately termed 'positional cloning,' Royer-Pokora et al. (1986) cloned the gene that is abnormal in X-linked chronic granulomatous disease (CGD; 306400) without reference to a specific protein. This was done by relying on the chromosomal map position of the gene and was, in effect, a byproduct of the chromosome walking experiments aimed at characterizing the DMD locus. From human leukemic cells treated with dimethylformamide, which induces the NADPH-oxidase system and other constituents of granulocytic differentiation, Royer-Pokora et al. (1986) isolated a cDNA that was subjected to subtractive hybridization with RNA from a cell line of a patient with deletion of the CGD/DMD complex in Xp21. The subtracted radiolabeled cDNA was hybridized to a Southern blot of Xp21 bacteriophage clones. Two overlapping clones (pERT 379) showed hybridization. The transcript of the gene was expressed in the phagocytic lineage of hematopoietic cells and was absent or structurally abnormal in 4 patients with CGD. The nucleotide sequence of cDNA clones predicted a polypeptide of at least 468 amino acids with no homology to previously described proteins. Specifically, cytochrome b was excluded. Although a consistent finding in X-linked CGD is absence of the heme spectrum derived from cytochrome b, the authors suggested that the deficiency may be secondary to the primary genetic abnormality. </p><p>Dinauer et al. (1987) raised antibodies to a synthetic peptide derived from the cDNA sequence of the putative CGD gene. Western blot analysis detected a neutrophil protein of relative molecular mass 90 kD that was absent in CGD patients. Antisera also reacted with the larger component of cytochrome b purified from neutrophil plasma membranes as a complex of glycosylated 90-kD and nonglycosylated 22-kD polypeptides. Dinauer et al. (1987) proposed that one of the critical roles of the CGD protein in vivo is to interact with the 22-kD polypeptide to form a functional cytochrome b complex.</p><p>Cytochrome b(-245) is a heterodimer composed of an alpha chain of relative molecular mass 23 kD and a beta chain of 76 to 82 kD. Teahan et al. (1987) purified the beta-chain protein of the cytochrome and sequenced 43 amino acids from the N terminus. Almost complete homology was obtained between this sequence and that of the complementary nucleotides 19-147 of the sequence of the CGD gene. Teahan et al. (1987) pointed to work indicating that cytochrome b(-245) is missing from the cells of CGD patients; neither the alpha nor the beta subunits are detectable in neutrophils from CGD patients. Parkos et al. (1987) demonstrated that the purified cytochrome b from human granulocyte plasma membrane is composed of 2 polypeptides of relative molecular masses 91 kD and 22 kD, and noted that the 91-kD protein is affected in X-linked CGD. </p><p>Orkin (1987) stated that unraveling the genetic basis of X-linked CGD was dependent not only on gene cloning based on chromosomal map position and preparation of antisera directed to a known protein, but also on the existence of complementary biochemical data which identified the unknown product as a component of the cytochrome b complex.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Jackson et al. (2004) reported that activated mouse T cells deficient in either gp91-phox or p47-phox showed enhanced activation of Erk (see MAPK3; 601795) and Mek (see MAP2K1; 176872), diminished expression of phagocyte-type NADPH oxidase, and a relative increase in Th1-type cytokine secretion. They suggested that similar alterations may be found in patients with chronic granulomatous disease. </p><p>Dendritic cells (DCs) present antigens from pathogens or infected cells to CD8 (see 186910)-positive T cells after partial degradation of the antigens to 8- or 9-amino acid peptides, which is mediated by lysosomal proteases in an acidic environment. Savina et al. (2006) showed that DCs, but not macrophages, had an active machinery of phagosomal alkalinization that maintained the phagosomal pH between 7 and 7.5 for the first few hours after phagocytosis. Upon inactivation of the vacuolar ATPase (see 607028), the phagosomal pH in DCs, but not macrophages, alkalinized strongly. Confocal microscopy demonstrated that NOX2 assembled on DC phagosomes in a gp91-phox subunit-dependent manner, and that reactive oxygen species were produced in a more sustained manner in immature DC phagosomes than in macrophage phagosomes. DCs obtained from mice lacking Nox2 due to deletion of gp91-phox displayed a rapid phagosomal acidification and increased antigen degradation, resulting in inefficient antigen crosspresentation. Savina et al. (2006) concluded that NOX2, a major player in innate immune responses in neutrophils, is also involved in adaptive immunity through its activity in DCs. </p><p>Prosser et al. (2011) reported that in heart cells, physiologic stretch rapidly activates reduced-form NOX2 to produce reactive oxygen species (ROS) in a process dependent on microtubules (X-ROS signaling). ROS production occurs in the sarcolemmal and t-tubule membranes where NOX2 is located and sensitizes nearby ryanodine receptors in the sarcoplasmic reticulum. This triggers a burst of Ca(2+) sparks, the elementary Ca(2+) release events in heart. Although this stretch-dependent 'tuning' of ryanodine receptors increases Ca(2+) signaling sensitivity in healthy cardiomyocytes, in disease it enables Ca(2+) sparks to trigger arrhythmogenic Ca(2+) waves. In the mouse model of Duchenne muscular dystrophy (310200), hyperactive X-ROS signaling contributes to cardiomyopathy through aberrant Ca(2+) release from the sarcoplasmic reticulum. Prosser et al. (2011) concluded that X-ROS signaling thus provides a mechanistic explanation for the mechanotransduction of Ca(2+) release in the heart and offers fresh therapeutic possibilities. </p><p>By microscopic analyses of transfected mouse macrophages and HEK293T cells, Thomas et al. (2017) demonstrated that Eros (CYBC1; 618334) colocalized in the endoplasmic reticulum (ER) with gp91phox and p22phox. Coimmunoprecipitation analysis showed that Eros interacted directly with gp91phox. Based on studies of neutrophils and macrophages from Eros -/- mice, the authors found that Eros was required for expression of gp91phox and p22phox, suggesting that Eros controls gp91phx and p22phox degradation in the ER. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By positional cloning, Royer-Pokora et al. (1986) identified the CYBB gene at Xp21. </p><p>Gross (2014) mapped the CYBB gene to chromosome Xp11.4 based on an alignment of the CYBB sequence (GenBank AF469769) with the genomic sequence (GRCh38).</p><p>Brockdorff et al. (1988) used the cloned CYBB gene to map the mouse homolog to the X chromosome in an interspecific Mus domesticus/M. spretus cross. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Chronic Granulomatous Disease, X-linked</em></strong></p><p>
|
|
In a male patient with the cytochrome b-positive variant of X-linked CGD (CGDX; 306400), Dinauer et al. (1989) identified a hemizygous missense mutation in the CYBB gene (P415H; 300481.0001). </p><p>In 6 patients with X-linked CGD, both cytochrome b-negative and cytochrome b-positive forms, Bolscher et al. (1991) identified 6 different point mutations in the CYBB gene (300481.0002-300481.0007). </p><p>A remarkable family was described by de Boer et al. (1998) in which 2 brothers had CGD due to different mutations in the CYBB gene. One had a 3-kb deletion comprising exon 5 and the other a 3.5-kb deletion comprising exons 6 and 7. Sequence analysis of PCR-amplified genomic DNA showed that these deletions overlapped for 35 bp. Analysis by RFLP of genomic DNA from the mother's leukocytes showed her to be a carrier of both deletions in addition to the normal CYBB sequence, indicating triple somatic mosaicism. The presence of a normal CYBB gene in the mother was also proven by the finding of normal superoxide-generating neutrophils in addition to cells lacking this ability. Triple X syndrome was excluded. The finding suggested that the mutations resulted from an event in early embryogenesis in the mother, possibly involving a mechanism such as sister chromatid exchange. </p><p>Noack et al. (2001) described a second case of somatic triple mosaicism, the mutation in the patient being the insertion of 12 bp in intron 11, accompanied by the deletion of exon 12. The grandmother of this patient was chimeric, carrying a normal allele, the patient's allele, and an allele with a 4-nucleotide insertion at a site adjacent to the patient's insertion, in combination with a 1.5-kb deletion within intron 11. The patient's mother carried a normal allele and the patient's allele. Noack et al. (2001) proposed that an initial mutational event during the grandmother's embryogenesis had undergone unsuccessful DNA repair and resulted in 2 aberrant alleles, 1 of which had been inherited by the patient and his mother. </p><p>Rae et al. (1998) identified the mutations in the CYBB gene responsible for X-linked CGD in 131 consecutive independent kindreds. Screening by SSCP analysis identified mutations in 124 of the kindreds, and sequencing of all exons and intron boundary regions revealed the other 7 mutations. They detected 103 different specific mutations; no single mutation appeared in more than 7 independent kindreds. The types of mutations included large and small deletions (11%), frameshifts (24%), nonsense mutations (23%), missense mutations (23%), splice region mutations (17%), and regulatory-region mutations (2%). The distribution of mutations within the CYBB gene exhibited great heterogeneity, with no apparent mutation hotspots. Evaluation of 87 available mothers revealed X-linked carrier status in all but 10. The heterogeneity of mutations and the lack of any predominant genotype indicate that the disease represents many different mutational events, without a founder effect, as is expected for a disorder with a previously lethal phenotype. </p><p><strong><em>Immunodeficiency 34</em></strong></p><p>
|
|
In 7 males from 2 kindreds with X-linked familial atypical mycobacteriosis (IMD34; 300645), Bustamante et al. (2011) identified missense mutations in the CYBB gene (300481.0022 and 300481.0023). All clinically affected males in both kindreds were hemizygous for the mutated allele, whereas other maternally related healthy males tested were not. All 11 obligate female carriers tested in the 2 kindreds were heterozygous for the mutated allele. Bustamante et al. (2011) found that all affected males, as well as other family members, had normal NADPH oxidase activity in circulating neutrophils and monocytes, unlike individuals with CGD or variant CGD. However, in vitro differentiation of monocytes to macrophages in the presence of MCSF (CSF1; 120420) revealed that NADPH oxidase activity was impaired in patient macrophages, and the ability to control the growth of bacillus Calmette-Guerin (BCG) was reduced. Impairment of NADPH oxidase activity was also demonstrable in patient B-cell lines. Immunoblot analysis showed reduced expression of CYBB in patient neutrophils and monocytes, with a much greater reduction in monocyte-derived macrophages. Immunohistochemistry showed impaired production of CYBB in patient lymph node macrophages. Bustamante et al. (2011) concluded that the CYBB mutations in these 7 adult patients, who had no history of other granulomatous or infectious diseases, resulted in dysfunction of macrophages, but not in dysfunction of granulocytes or monocytes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Enhanced redox stress and inflammation are associated with progression of amyotrophic lateral sclerosis (ALS; 105400). Marden et al. (2007) evaluated the effects of Nox1 (300225) or Nox2 deletion on transgenic mice overexpressing human SOD1 (147450) with the ALS-associated gly93-to-ala mutation (G93A; 147450.0008) by monitoring the onset and progression of disease using various indices. Disruption of either Nox1 or Nox2 significantly delayed progression of motor neuron disease in these mice. However, 50% survival rates were enhanced significantly more by Nox2 deletion than Nox1 deletion. Female mice lacking 1 copy of the X-chromosomal Nox1 or Nox2 genes also exhibited significantly increased survival rates, suggesting that in the setting of random X-inactivation, a 50% reduction in Nox1- or Nox2-expressing cells has a substantial therapeutic benefit in ALS mice. Marden et al. (2007) concluded that NOX1 and NOX2 contribute to the progression of ALS. </p><p>Deffert et al. (2014) conducted a literature search that found nearly 300 cases of mycobacterial infection in CGD, principally caused by M. bovis BCG. The authors then investigated BCG infection in 3 different mouse models of CGD: 2 strains of mice lacking Ncf1 and mice lacking Cybb. All 3 CGD mouse strains were highly susceptible to intravenous BCG infection, manifest as severe weight loss, hemorrhagic pneumonia with high numbers of neutrophils, and 50% mortality. These mice had only moderately increased bacterial load. Macrophage-specific rescue of Cybb restored BCG resistance. ROS was generated in granulomas of wildtype mice, but not CGD mice. Massive increases in the release of the cytokines Tnf (191160), Ifng (147570), Il17 (603149), and Il12 (161561), as well as Cxcl1 (155730), a neutrophil chemoattractant, occurred early after infection in CGD mice, possibly explaining disease severity. Macrophages clustered in granulomas in wildtype mice, whereas macrophages were diffusely distributed in lungs of CGD mice. Deffert et al. (2014) concluded that lack of NADPH oxidase leads to markedly increased severity of BCG infection through increased cytokine production and reduced granuloma formation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>23 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, PRO415HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854585,
|
|
|
|
|
|
|
|
ClinVar: RCV000011667, RCV000059237, RCV001385155
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the variant form of cytochrome b-positive X-linked CGD (306400), Dinauer et al. (1989) demonstrated a C-A transversion in the CYBB gene, resulting in a pro415-to-his (P415H) substitution in the mature protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, GLY389ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854586,
|
|
|
|
|
|
|
|
ClinVar: RCV000011668, RCV000059232
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with variant X-linked CGD (306400), in which there is some residual expression of cytochrome b, Bolscher et al. (1991) identified a G-to-C transversion in the CYBB gene, resulting in a gly389-to-ala (G389A) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, HIS209TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854587,
|
|
|
|
|
|
|
|
ClinVar: RCV000011669, RCV000059265
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with classic CGD (306400), Bolscher et al. (1991) identified a C-to-T change in the CYBB gene, resulting in a his209-to-tyr (H209Y) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, ARG73TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854588,
|
|
|
|
|
|
|
|
ClinVar: RCV000011670, RCV000254770, RCV003398485
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with classic CGD (306400), Bolscher et al. (1991) identified a nonsense mutation in the CYBB gene: a C-to-T change resulting in an arg73-to-ter (R73X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, CYS244SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854589,
|
|
|
|
|
|
|
|
ClinVar: RCV000011671, RCV000059278
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with variant CGD (306400), Bolscher et al. (1991) identified a T-to-C transition in the CYBB gene, resulting in a cys244-to-ser (C244S) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, ALA156THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854590,
|
|
|
|
|
|
|
|
ClinVar: RCV000011672, RCV000059259, RCV003509481
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a variant form of CGD (306400), Bolscher et al. (1991) identified a G-to-A transition in the CYBB gene, resulting in an ala156-to-thr (A156T) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, HIS101ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854591,
|
|
|
|
|
|
|
|
ClinVar: RCV000011673, RCV000059257, RCV001192988
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with a classic form of CGD (306400), Bolscher et al. (1991) identified an A-to-G transition in the CYBB gene, resulting in a his101-to-arg (H101R) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, EX12DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2146821097,
|
|
|
|
|
|
|
|
ClinVar: RCV000011675
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked CGD (306400), Schapiro et al. (1991) identified a 30-nucleotide deletion involving nucleotides 1464-1491 (numbered according to the system of Orkin (1989)) in the CYBB gene. The encoded polypeptide, normally composed of 570 amino acids, was predicted to lack residues 488-497. Since the deletion began precisely at the 5-prime end of exon 12 in the gp91-phox gene, mutation in the 3-prime splice acceptor site was suspected. An A-to-G mutation in the AG 3-prime acceptor dinucleotide was found. A downstream cryptic acceptor site in the coding sequence in exon 12 must have been used during mRNA splicing of the mutant gene. The patient was a 69-year-old white man who had been in excellent health without antecedent infections until a febrile illness with a blood culture positive for Pseudomonas cepacia. The family history was remarkable for a son of the man's daughter who had died at the age of 5 years from P. cepacia pneumonia complicating presumptive CGD. The good health of the grandfather may highlight the importance of oxygen-independent microbicidal pathways and of cytokines such as interferon gamma (147570) and granulocyte-macrophage colony-stimulating factor (138960) that can augment phagocyte function in vivo. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, ARG226TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854592,
|
|
|
|
|
|
gnomAD: rs137854592,
|
|
|
|
|
|
ClinVar: RCV000011676, RCV000523721, RCV001826456
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Curnutte et al. (1992) described a woman with X-linked CGD (306400), whose neutrophils failed to generate detectable levels of superoxide and were uniformly nonreactive in the nitroblue tetrazolium test. The patient was found to be heterozygous for a 688C-T change in the CYBB gene, resulting in an arg226-to-ter (R226X) nonsense mutation. This mutation was not present in either the mother or the father. The patient was also heterozygous for the G6PD polymorphism involving nucleotide 1311T or 1311C (305900.0018). Curnutte et al. (1992) pointed out that this polymorphism affords a method of determining which X chromosome is active in a tissue by PCR amplification of cDNA. Since mRNA is made only from the active X chromosome, this method allows one to determine the ratio of activities of the X chromosomes in a tissue sample. In artificial mixtures of amplified cDNA, ratios as low as 1:20 were detected. Twenty to fifty percent of women of all races are heterozygous for the nucleotide 1311 polymorphism. Within the limits of the sensitivity of this method, all of the patient's granulocytes used only one of her X chromosomes for mRNA production, namely, the one contributed by the father. Since the mutation was absent from the father's somatic cells, it presumably represented a new mutation in the paternal germline. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, IVS3, G-A, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1602175016,
|
|
|
|
|
|
|
|
ClinVar: RCV000011677
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with chronic granulomatous disease (306400), de Boer et al. (1992) demonstrated a G-to-A transition at the fifth base of the donor splice site of intron 3 of the CYBB gene, resulting in the skipping of exon 3. An expectant mother was diagnosed as a carrier. Analysis of PCR-amplified genomic DNA from a chorionic villus biopsy showed the same mutation in the male fetus. The diagnosis was confirmed by conventional methods after termination of the pregnancy. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, ASP500GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854593,
|
|
|
|
|
|
|
|
ClinVar: RCV000011678, RCV000059242
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked CGD (306400), Leusen et al. (1994) identified a 1511A-G transition in exon 15 of the CYBB gene, resulting in an asp500-to-gly (D500G) substitution. The mutation was associated with normal amounts of nonfunctional cytochrome b(558) in the patient's neutrophils. Asp-500 of gp91-phox resides in a region critical for stable binding of p47-phox and p67-phox. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, HIS101TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854594,
|
|
|
|
|
|
|
|
ClinVar: RCV000011679, RCV000059256, RCV001851796
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient diagnosed with X-linked chronic granulomatous disease (306400), Tsuda et al. (1998) reported a C-to-T transition in the CYBB gene, resulting in a his101-to-tyr (H101Y) substitution. The patient showed a complete absence of O(2)-forming NADPH oxidase activity, but immunoblot analysis detected p22-phox and gp91-phox at about 10% of control amounts. These results provided evidence that histidine-101 of gp91-phox is one of the heme-binding ligands of cytochrome-b(558). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, 250GCG-GCA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906485,
|
|
|
|
|
|
|
|
ClinVar: RCV000011680, RCV000482302, RCV002504778
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ishibashi et al. (2000) found a splicing mutation in the CYBB gene in 2 brothers with CGD (306400). The last 3 nucleotides of exon 3 in converted from GCG to GCA, resulting in deletion of exon 3 in some of the mRNA. The ratio of expression of normally and alternatively spliced mRNA was found to be different between the proband and his affected brother. A total of 5 families with the same mutation had been reported from western countries (Roos et al., 1996; Rae et al., 1998), and from China (Hui et al., 1996). The case reported by Rae et al. (1998) had both normal and alternatively spliced mRNA sequences. Another patient with this same mutation was 37 years old at the time of report and had been comparatively well; his brother died of septicemia at the age of 9 years and his daughter had been diagnosed as a CGD carrier. On the basis of the work of Eissa et al. (1996), Ishibashi et al. (2000) raised the possibility that a cytokine affects the splicing efficiency or stabilization of mRNA of the CYBB gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, IN5, L1 INS
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011681
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Long interspersed nuclear element-1 (LINE-1, or L1 elements; see 151626) are DNA elements present in the genome in high copy number and are capable of active retrotransposition. Meischl et al. (2000) stated that LINE-1 sequences had been implicated in 13 cases of human disease, in most instances due to insertion into the coding sequences of the affected genes. They described a patient with CGD (306400) caused by L1 insertion into an intronic sequence of the CYBB gene. Due to internal rearrangements, the insert in intron 5 introduced new splice sites. This resulted in a highly heterogeneous splicing pattern with introduction of 2 L1 fragments as new exons into the transcripts and concomitant skipping of exonic coding sequence. Because no wildtype cDNA was found, this mechanism was probably responsible for the patient's phenotype. The L1 fragment, which belonged to the Ta subset of transcriptionally active LINEs, illustrated a new mechanism by which these elements can modify the transcribed coding sequence of genes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, 252G-A
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011680, RCV000482302, RCV002504778
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Ishibashi et al. (2001) described a Japanese family in which 5 male cousins in 4 separate sibships, the sons of 4 sisters, had CGD (306400) and a 252G-A transition at the last nucleotide of exon 3 of the CYBB gene, changing the last codon from GCG to GCA. Although transcriptionally silent, the mutation interfered with splicing. Three of the cousins, aged 13, 17, and 16 years, were treated with 1 subcutaneous dose of interferon-gamma, which resulted in greatly increased neutrophil superoxide-generating ability and partial correction of abnormal splicing of the CYBB gene transcripts. Three of the descendants in this family had died young of severe bacterial infection, suggesting that they had CGD. The authors noted that an intractable acne vulgaris of the face in 2 patients disappeared after treatment with interferon-gamma. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, HIS303ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854595,
|
|
|
|
|
|
|
|
ClinVar: RCV000011683, RCV000059279
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Stasia et al. (2002) described 2 atypical cases of X-linked CGD (306400) in male first cousins in whom cytochrome b(558) was present at a normal level, but was not functional. The boys were 16 years old at the time of the study. One boy presented at the age of 9 months with a reaction due to Calmette-Guerin bacillus (BCG) with associated axillary lymphadenitis. At the age of 8 years, he developed a liver abscess caused by S. aureus and CGD was diagnosed by the absence of NBT reduction in neutrophils. The NBT slide test gave normal results in the father and intermediate values in the mother, both of whom were in good health. The maternal first cousin presented with a similar clinical history, and CGD was diagnosed at the age of 8 years. Stasia et al. (2002) identified 2 base substitutions in the CYBB gene, 919C-A and 923C-G, resulting in his303-to-asn (H303N) and pro304-to-arg (P304R; 300481.0017) changes in the C-terminal tail of the protein. The mothers of the cousins had both wildtype and mutated alleles. FAD was present in normal amounts in neutrophil membranes, both in the patients and their parents. The mutated gp91-phox still functioned as a proton channel; however, association of the cytosolic factors p47-phox and p67-phox with the membrane fraction was strongly disrupted. Stasia et al. (2002) concluded that residues 303 and 304 are crucial for the stable assembly of the NADPH oxidase complex and for electron transfer, but not for its proton channel activity. </p><p>In stably transfected PLB-985 cells, Bionda et al. (2004) demonstrated that the H303N mutation completely inhibited NADPH oxidase activity, whereas the P304R mutation reduced it to 4% of wildtype activity. NADPH oxidase assembly was abolished in H303N mutant cells, but the translocation was only attenuated in P304R mutants. Bionda et al. (2004) concluded that neither mutation is a polymorphism. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, PRO304ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137854596,
|
|
|
|
|
|
|
|
ClinVar: RCV000011674, RCV000059280
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>See 300481.0016, Stasia et al. (2002), and Bionda et al. (2004). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, IVS5, G-T, +978
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2146810847,
|
|
|
|
|
|
|
|
ClinVar: RCV000011684
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-month-old boy with chronic granulomatous disease (306400) manifested by neutrophils that failed to reduce NBT and a history of otitis media, Noack et al. (2001) identified an unusual intronic mutation in the CYBB gene: a 978G-T transversion in intron 5 that created a novel 5-prime splice site and resulted in multiple abnormal mRNA products. His mother had a lifelong history of chronic skin abscesses and was originally diagnosed as having autosomal recessive CGD (233690) as a child. As an adult, she was found to have 15% positive cells in the NBT test and 10% positive by dihydrorhodamine flow cytometry, suggestive of a carrier of X-linked CGD with skewed X inactivation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, EX4, L1 INS
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000011685
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Dutch male patient with chronic granulomatous disease (306400), Brouha et al. (2002) identified an insertion of an L1 retrotransposable element from the site of the precursor L1 locus on 2q24.1, which they called LRE3, into exon 4 of the CYBB gene. They used a unique polymorphic C-prime transduction to show that the L1 retrotransposition event most likely occurred in the maternal primary oocyte during meiosis I. More than half of recent human L1 insertions have occurred in only 3 genes: CYBB, factor VIII (300841), and dystrophin (DMD; 300377) (Ostertag and Kazazian, 2001). Brouha et al. (2002) stated that it was undetermined whether these 3 genes are L1 hotspots or whether this seeming cluster of L1 activity is the result of an ascertainment bias. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, IVS1, T-C, +6
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1569478551,
|
|
|
|
|
|
|
|
ClinVar: RCV000011686
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with X-linked CGD (306400) first reported by Ezekowitz et al. (1988), Rae et al. (1998) identified a T-to-C change in the 5-prime splice site of intron 1 of the CYBB gene, resulting in a diminished level of p91-phox. In this patient, Ezekowitz et al. (1988) found that interferon-gamma (IFNG; 147570), an activator of phagocytes, resulted in a 5- to 10-fold increase in superoxide production by granulocytes and monocytes, a proportionate rise in granulocyte bactericidal activity, and an increase in the cellular contents of phagocyte cytochrome b and immunoreactive cytochrome b heavy chain. In other CGD group studies, however, no apparent increases in phagocyte superoxide generation were observed. For that reason, the patient studied by Ezekowitz et al. (1988) was considered to be an exceptional case. Condino-Neto and Newburger (2000) proposed that IFN-gamma improved the splicing efficiency of CYBB gene transcripts in that patient and corrected a nuclear processing defect due to the intronic mutation by augmenting nuclear export of normal transcripts. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, SOMATIC MOSAIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, 90CCG-GGT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906486,
|
|
|
|
|
|
|
|
ClinVar: RCV000011687
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 80-year-old woman of Iraqi origin with CGD (306400), Wolach et al. (2005) identified a novel somatic mutation in the CYBB gene in heterozygous form: in the sequence 88-93TACCGG, nucleotides CCG were changed to GGT, resulting in tyr30-to-ter (Y30X) and arg31-to-val (R31V) substitutions. In the patient's leukocytes, the nonmutated CYBB allele had apparently been inactivated. Only 0.4 to 2% of her neutrophils showed NADPH oxidase activity. This extreme skewing of X-chromosome inactivation was not found in cheek mucosal cells where the CYBB mutation was not present. The mutation was barely detectable in the DNA from memory T lymphocytes. Wolach et al. (2005) concluded that this patient showed somatic mosaicism for the CYBB mutation, which probably originated during her lifetime in her bone marrow. The patient had had a normal and healthy life until age 66. Thereafter, she underwent about 30 hospitalizations within 8 years, for Serratia marcescens sepsis, recurrent pneumonia (5 times) and sinusitis (2 times), Staphylococcal aureus pretibial abscess, Acinetobacter skin abscess, Escherichia coli and Candida albicans urinary tract infections, Providentia osteomyelitis and septic arthritis, suppurative adenitis, liver cysts and calcified lesions, panuveitis, anthralgia, vaginal ulcers, aphthous stomatitis, pyoderma gangrenosum, and vasculitis-like skin rash on face and limbs. After the diagnosis of chronic granulomatous disease was established at the age of 74 years, she was successfully treated with trimethoprim-sulfamethoxazole on a prophylactic daily basis, and no more hospitalizations or relevant infections occurred. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0022 IMMUNODEFICIENCY 34</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, GLU231PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs151344498,
|
|
|
|
|
|
|
|
ClinVar: RCV000022861, RCV000059275, RCV000208611
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 maternally related French males with X-linked familial atypical mycobacteriosis (IMD34; 300645) previously reported by Bustamante et al. (2007), Bustamante et al. (2011) identified an A-to-C transversion in exon 7 of the CYBB gene that resulted in a glu231-to-pro (Q231P) substitution in the third extracellular loop of the protein. The mutation resulted in an impaired respiratory burst in macrophages, but not in granulocytes or monocytes. Three of the patients had BCG disease, and 1, who had not been vaccinated with BCG, had tuberculosis. The patients were otherwise healthy, with no clinical chronic granulomatous disease (CGD; 306400), a finding confirmed by laboratory tests. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0023 IMMUNODEFICIENCY 34</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CYBB, THR178PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs151344497,
|
|
|
|
|
|
|
|
ClinVar: RCV000022862, RCV000059260, RCV000208608
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 maternally related French males with X-linked familial atypical mycobacteriosis (IMD34; 300645), Bustamante et al. (2011) identified an A-to-C transversion in exon 6 of the CYBB gene that resulted in a thr178-to-pro (T178P) substitution in the transmembrane region of the protein. The mutation resulted in an impaired respiratory burst in macrophages, but not in granulocytes or monocytes. All 3 patients had BCG disease. They were otherwise healthy, with no clinical chronic granulomatous disease (CGD; 306400), a finding confirmed by laboratory tests. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Carson et al. (1965); Dinauer et al. (1987); Dinauer and Orkin (1988)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bionda, C., Li, X. J., van Bruggen, R., Eppink, M., Roos, D., Morel, F., Stasia, M.-J.
|
|
<strong>Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b(558)-positive chronic granulomatous disease by means of transgenic PLB-985 cells.</strong>
|
|
Hum. Genet. 115: 418-427, 2004.
|
|
|
|
|
|
[PubMed: 15338276]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-004-1173-z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bolscher, B. G. J. M., de Boer, M., de Klein, A., Weening, R. S., Roos, D.
|
|
<strong>Point mutations in the beta-subunit of cytochrome b(558) leading to X-linked chronic granulomatous disease.</strong>
|
|
Blood 77: 2482-2487, 1991.
|
|
|
|
|
|
[PubMed: 1710153]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brockdorff, N., Fisher, E. M. C., Orkin, S. H., Lyon, M. F., Brown, S. D. M.
|
|
<strong>Localization of the human X-linked gene for chronic granulomatous disease to the mouse X chromosome: implications for X-chromosome evolution.</strong>
|
|
Cytogenet. Cell Genet. 48: 124-125, 1988.
|
|
|
|
|
|
[PubMed: 3197451]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000132605]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D., Kazazian, H. H., Jr.
|
|
<strong>Evidence consistent with human L1 retrotransposition in maternal meiosis I.</strong>
|
|
Am. J. Hum. Genet. 71: 327-336, 2002.
|
|
|
|
|
|
[PubMed: 12094329]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/341722]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bustamante, J., Arias, A. A., Vogt, G., Picard, C., Galicia, L. B., Prando, C., Grant, A. V., Marchal, C. C., Hubeau, M., Chapgier, A., de Beaucoudrey, L., Puel, A., and 18 others.
|
|
<strong>Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculosis mycobacterial disease.</strong>
|
|
Nature Immun. 12: 213-221, 2011.
|
|
|
|
|
|
[PubMed: 21278736]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ni.1992]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bustamante, J., Picard, C., Fieschi, C., Filipe-Santos, O., Feinberg, J., Perronne, C., Chapgier, A., de Beaucoudrey, L., Vogt, G., Sanlaville, D., Lemainque, A., Emile, J.-F., Abel, L., Casanova, J.-L.
|
|
<strong>A novel X-linked recessive form of Mendelian susceptibility to mycobacterial disease.</strong>
|
|
J. Med. Genet. 44: e65, 2007. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 17293536]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2006.043406]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carson, M. J., Chadwick, D. L., Brubaker, C. A., Cleland, R. S., Landing, B. H.
|
|
<strong>Thirteen boys with progressive septic granulomatosis.</strong>
|
|
Pediatrics 35: 405-412, 1965.
|
|
|
|
|
|
[PubMed: 14258653]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Condino-Neto, A., Newburger, P. E.
|
|
<strong>Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation.</strong>
|
|
Blood 95: 3548-3554, 2000.
|
|
|
|
|
|
[PubMed: 10828042]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Curnutte, J. T., Hopkins, P. J., Kuhl, W., Beutler, E.
|
|
<strong>Studying X inactivation. (Letter)</strong>
|
|
Lancet 339: 749 only, 1992.
|
|
|
|
|
|
[PubMed: 1347621]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(92)90653-k]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Boer, M., Bakker, E., Van Lierde, S., Roos, D.
|
|
<strong>Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease.</strong>
|
|
Blood 91: 252-257, 1998.
|
|
|
|
|
|
[PubMed: 9414292]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Boer, M., Bolscher, B. G. J. M., Sijmons, R. H., Scheffer, H., Weening, R. S., Roos, D.
|
|
<strong>Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction.</strong>
|
|
Prenatal Diag. 12: 773-777, 1992.
|
|
|
|
|
|
[PubMed: 1438069]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/pd.1970120910]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Deffert, C., Schappi, M. G., Pache, J.-C., Cachat, J., Vesin, D., Bisig, R., Ma Mulone, X.., Kelkka, T., Holmdahl, R., Garcia, I., Olleros, M. L., Krause, K.-H.
|
|
<strong>Bacillus Calmette-Guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation.</strong>
|
|
PLoS Pathog. 10: e1004325, 2014. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 25188296]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1371/journal.ppat.1004325]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Curnutte, J. T., Rosen, H. R., Orkin, S. H.
|
|
<strong>A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.</strong>
|
|
J. Clin. Invest. 84: 2012-2016, 1989.
|
|
|
|
|
|
[PubMed: 2556453]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114393]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Orkin, S. H., Brown, R., Jesaitis, A. J., Parkos, C. A.
|
|
<strong>The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.</strong>
|
|
Nature 327: 717-720, 1987.
|
|
|
|
|
|
[PubMed: 3600768]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/327717a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dinauer, M. C., Orkin, S. H.
|
|
<strong>Chronic granulomatous disease: molecular genetics.</strong>
|
|
Hemat. Oncol. Clin. North Am. 2: 225-240, 1988.
|
|
|
|
|
|
[PubMed: 3292508]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dinauer, M., Parkos, C. A., Jesaitis, A. J., Orkin, S. H.
|
|
<strong>Identification of the in vivo protein encoded by the gene mutated in X-linked chronic granulomatous disease (X-CGD). (Abstract)</strong>
|
|
Clin. Res. 35: 598A only, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eissa, N. T., Strauss, A. J., Haggerty, C. M., Choo, E. K., Chu, S. C., Moss, J.
|
|
<strong>Alternative splicing of human inducible nitric-oxide synthase mRNA. Tissue-specific regulation and induction by cytokines.</strong>
|
|
J. Biol. Chem. 271: 27184-27187, 1996.
|
|
|
|
|
|
[PubMed: 8900212]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.271.43.27184]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ezekowitz, R. A. B., Dinauer, M. C., Jaffe, H. S., Orkin, S. H., Newburger, P. E.
|
|
<strong>Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma.</strong>
|
|
New Eng. J. Med. 319: 146-151, 1988.
|
|
|
|
|
|
[PubMed: 2838754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198807213190305]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 9/8/2014.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hui, Y. F., Chan, S. Y., Lau, Y. L.
|
|
<strong>Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.</strong>
|
|
Blood 88: 4021-4028, 1996. Note: Erratum: Blood 89: 1843 only, 1997.
|
|
|
|
|
|
[PubMed: 8916969]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ishibashi, F., Mizukami, T., Kanegasaki, S., Motoda, L., Kakinuma, R., Endo, F., Nunoi, H.
|
|
<strong>Improved superoxide-generating ability by interferon-gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.</strong>
|
|
Blood 98: 436-441, 2001.
|
|
|
|
|
|
[PubMed: 11435314]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood.v98.2.436]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ishibashi, F., Nunoi, H., Endo, F., Matsuda, I., Kanegasaki, S.
|
|
<strong>Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.</strong>
|
|
Hum. Genet. 106: 473-481, 2000.
|
|
|
|
|
|
[PubMed: 10914676]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390000288]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jackson, S. H., Devadas, S., Kwon, J., Pinto, L. A., Williams, M. S.
|
|
<strong>T cells express a phagocyte-type NADPH oxidase that is activated after T cell receptor stimulation.</strong>
|
|
Nature Immun. 5: 818-827, 2004.
|
|
|
|
|
|
[PubMed: 15258578]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ni1096]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leusen, J. H. W., de Boer, M., Bolscher, B. G. J. M., Hilarius, P. M., Weening, R. S., Ochs, H. D., Roos, D., Verhoeven, A. J.
|
|
<strong>A point mutation in gp91-phox of cytochrome b(558) of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.</strong>
|
|
J. Clin. Invest. 93: 2120-2126, 1994.
|
|
|
|
|
|
[PubMed: 8182143]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI117207]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marden, J. J., Harraz, M. M., Williams, A. J., Nelson, K., Luo, M., Paulson, H., Engelhardt, J. F.
|
|
<strong>Redox modifier genes in amyotrophic lateral sclerosis in mice.</strong>
|
|
J. Clin. Invest. 117: 2913-2919, 2007.
|
|
|
|
|
|
[PubMed: 17853944]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI31265]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meischl, C., de Boer, M., Ahlin, A., Roos, D.
|
|
<strong>A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease.</strong>
|
|
Europ. J. Hum. Genet. 8: 697-703, 2000.
|
|
|
|
|
|
[PubMed: 10980575]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200523]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Noack, D., Heyworth, P. G., Kyono, W., Cross, A. R.
|
|
<strong>A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease.</strong>
|
|
Hum. Genet. 109: 234-238, 2001.
|
|
|
|
|
|
[PubMed: 11511930]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390100551]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Noack, D., Heyworth, P. G., Newburger, P. E., Cross, A. R.
|
|
<strong>An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.</strong>
|
|
Biochim. Biophys. Acta 1537: 125-131, 2001.
|
|
|
|
|
|
[PubMed: 11566256]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0925-4439(01)00065-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>X-linked chronic granulomatous disease: from chromosomal position to the in vivo gene product.</strong>
|
|
Trends Genet. 3: 149-151, 1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orkin, S. H.
|
|
<strong>Molecular genetics of chronic granulomatous disease.</strong>
|
|
Annu. Rev. Immun. 7: 277-307, 1989.
|
|
|
|
|
|
[PubMed: 2523713]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1146/annurev.iy.07.040189.001425]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ostertag, E. M., Kazazian, H. H., Jr.
|
|
<strong>Biology of mammalian L1 retrotransposons.</strong>
|
|
Annu. Rev. Genet. 35: 501-538, 2001.
|
|
|
|
|
|
[PubMed: 11700292]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1146/annurev.genet.35.102401.091032]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Parkos, C. A., Allen, R. A., Cochrane, C. G., Jesaitis, A. J.
|
|
<strong>Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000.</strong>
|
|
J. Clin. Invest. 80: 732-742, 1987.
|
|
|
|
|
|
[PubMed: 3305576]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113128]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Prosser, B. L., Ward, C. W., Lederer, W. J.
|
|
<strong>X-ROS signaling: rapid mechano-chemo transduction in heart.</strong>
|
|
Science 333: 1440-1445, 2011.
|
|
|
|
|
|
[PubMed: 21903813]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1202768]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rae, J., Newburger, P. E., Dinauer, M. C., Noack, D., Hopkins, P. J., Kuruto, R., Curnutte, J. T.
|
|
<strong>X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.</strong>
|
|
Am. J. Hum. Genet. 62: 1320-1331, 1998.
|
|
|
|
|
|
[PubMed: 9585602]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301874]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roos, D., de Boer, M., Kuribayashi, F., Meischl, C., Weening, R. S., Segal, A. W., Ahlin, A., Nemet, K., Hossle, J. P., Bernatowska-Matuszkiewicz, E., Middleton-Price, H.
|
|
<strong>Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.</strong>
|
|
Blood 87: 1663-1681, 1996.
|
|
|
|
|
|
[PubMed: 8634410]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., Orkin, S. H.
|
|
<strong>Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.</strong>
|
|
Nature 322: 32-38, 1986.
|
|
|
|
|
|
[PubMed: 2425263]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/322032a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Savina, A., Jancic, C., Hugues, S., Guermonprez, P., Vargas, P., Moura, I. C., Lennon-Dumenil, A. M., Seabra, M. C., Raposo, G., Amigorena, S.
|
|
<strong>NOX2 controls phagosomal pH to regulate antigen processing during crosspresentation by dendritic cells.</strong>
|
|
Cell 126: 205-218, 2006.
|
|
|
|
|
|
[PubMed: 16839887]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.cell.2006.05.035]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schapiro, B. L., Newburger, P. E., Klempner, M. S., Dinauer, M. C.
|
|
<strong>Chronic granulomatous disease presenting in a 69-year-old man.</strong>
|
|
New Eng. J. Med. 325: 1786-1790, 1991.
|
|
|
|
|
|
[PubMed: 1719419]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199112193252506]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stasia, M. J., Lardy, B., Maturana, A., Rousseau, P., Martel, C., Bordigoni, P., Demaurex, N., Morel, F.
|
|
<strong>Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.</strong>
|
|
Biochim. Biophys. Acta 1586: 316-330, 2002.
|
|
|
|
|
|
[PubMed: 11997083]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0925-4439(01)00110-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Teahan, C., Rowe, P., Parker, P., Totty, N., Segal, A. W.
|
|
<strong>The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b(-245).</strong>
|
|
Nature 327: 720-721, 1987.
|
|
|
|
|
|
[PubMed: 3600769]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/327720a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thomas, D. C., Clare, S., Sowerby, J. M., Pardo, M., Juss, J. K., Goulding, D. A., van der Weyden, L., Storisteanu, D., Prakash, A., Espeli, M., Flint, S., Lee, J. C., and 15 others.
|
|
<strong>Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.</strong>
|
|
J. Exp. Med. 214: 1111-1128, 2017.
|
|
|
|
|
|
[PubMed: 28351984]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1084/jem.20161382]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tsuda, M., Kaneda, M., Sakiyama, T., Inana, I., Owada, M., Kiryu, C., Shiraishi, T., Kakinuma, K.
|
|
<strong>A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b(558) in atypical X-linked chronic granulomatous disease.</strong>
|
|
Hum. Genet. 103: 377-381, 1998.
|
|
|
|
|
|
[PubMed: 9856476]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050836]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wolach, B., Scharf, Y., Gavrieli, R., de Boer, M., Roos, D.
|
|
<strong>Unusual last presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.</strong>
|
|
Blood 105: 61-66, 2005.
|
|
|
|
|
|
[PubMed: 15308575]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood-2004-02-0675]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 07/02/2020<br>Bao Lige - updated : 02/19/2019<br>Paul J. Converse - updated : 10/1/2014<br>Matthew B. Gross - updated : 9/8/2014<br>Ada Hamosh - updated : 11/22/2011<br>Paul J. Converse - updated : 6/14/2011<br>Patricia A. Hartz - updated : 3/3/2008<br>Paul J. Converse - updated : 2/20/2007<br>Paul J. Converse - updated : 10/27/2005<br>Marla J. F. O'Neill - updated : 4/25/2005<br>Victor A. McKusick - updated : 3/21/2005
|
|
</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">
|
|
Cassandra L. Kniffin : 3/2/2004
|
|
</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 : 07/07/2020<br>ckniffin : 07/02/2020<br>carol : 01/09/2020<br>mgross : 02/19/2019<br>alopez : 10/14/2016<br>carol : 01/29/2015<br>mgross : 10/3/2014<br>mgross : 10/3/2014<br>mcolton : 10/1/2014<br>mgross : 9/8/2014<br>terry : 11/13/2012<br>alopez : 11/29/2011<br>terry : 11/22/2011<br>mgross : 8/18/2011<br>terry : 6/14/2011<br>carol : 4/7/2011<br>terry : 11/25/2009<br>mgross : 3/3/2008<br>mgross : 2/21/2007<br>mgross : 2/20/2007<br>mgross : 11/7/2005<br>terry : 10/27/2005<br>terry : 8/3/2005<br>wwang : 4/29/2005<br>wwang : 4/27/2005<br>terry : 4/25/2005<br>carol : 3/30/2005<br>wwang : 3/24/2005<br>terry : 3/21/2005<br>carol : 3/15/2004<br>ckniffin : 3/15/2004<br>carol : 3/12/2004<br>terry : 3/12/2004<br>ckniffin : 3/11/2004
|
|
</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>
|
|
|
|
|