482 lines
42 KiB
Text
482 lines
42 KiB
Text
<!DOCTYPE html>
|
||
<html class="no-js" lang="en" dir="ltr" prefix="content: http://purl.org/rss/1.0/modules/content/ dc: http://purl.org/dc/terms/ foaf: http://xmlns.com/foaf/0.1/ rdfs: http://www.w3.org/2000/01/rdf-schema# sioc: http://rdfs.org/sioc/ns# sioct: http://rdfs.org/sioc/types# skos: http://www.w3.org/2004/02/skos/core# xsd: http://www.w3.org/2001/XMLSchema#">
|
||
<head>
|
||
<title>Scientists Identify New Congenital Neutropenia Syndrome and Causative Gene Mutation, December 31, 2008 News Release - National Institutes of Health (NIH)</title>
|
||
<meta charset="utf-8" />
|
||
<script type="text/javascript">
|
||
//<![CDATA[
|
||
var usasearch_config = { siteHandle:"nih" };
|
||
|
||
var script = document.createElement("script");
|
||
script.type = "text/javascript";
|
||
script.src = "//search.usa.gov/javascripts/remote.loader.js";
|
||
document.getElementsByTagName("head")[0].appendChild(script);
|
||
|
||
//]]>
|
||
</script><link rel="shortcut icon" href="https://www.nih.gov/favicon.ico" type="image/vnd.microsoft.icon" />
|
||
<meta name="google-site-verification" content="rjIoO4vW0AYgltSYvxM1L_CzGIkq28kHf9gHIASKx8s" />
|
||
<link rel="profile" href="http://www.w3.org/1999/xhtml/vocab" />
|
||
<meta http-equiv="cleartype" content="on" />
|
||
<link rel="apple-touch-icon" href="https://www.nih.gov/sites/all/themes/nih/apple-touch-icon.png" />
|
||
<meta name="description" content="A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3). The findings, which are published in the Jan. 1, 2009 issue of The" />
|
||
<meta name="keywords" content="NIH national institute health medicine science research medical scientific clinical disease scientists identify new congenital neutropenia syndrome causative gene mutation team scientists discovered severe SCN rare disorder children white cells mutations gene findings The New England Journal of Medicine international NLM" />
|
||
<meta name="robots" content="follow, index" />
|
||
<meta name="viewport" content="width=device-width, initial-scale=1.0" />
|
||
<meta name="generator" content="Drupal 7 (http://drupal.org)" />
|
||
<link rel="canonical" href="https://www.nih.gov/news-events/news-releases/scientists-identify-new-congenital-neutropenia-syndrome-causative-gene-mutation" />
|
||
<link rel="shortlink" href="https://www.nih.gov/node/24586" />
|
||
<meta http-equiv="content-language" content="EN" />
|
||
<meta property="og:site_name" content="National Institutes of Health (NIH)" />
|
||
<meta property="og:type" content="article" />
|
||
<meta property="og:title" content="Scientists Identify New Congenital Neutropenia Syndrome and Causative Gene Mutation" />
|
||
<meta property="og:url" content="https://www.nih.gov/news-events/news-releases/scientists-identify-new-congenital-neutropenia-syndrome-causative-gene-mutation" />
|
||
<meta property="og:description" content="A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3). The findings, which are published in the Jan. 1, 2009 issue of The New England Journal of Medicine, were made by an international team of scientists, composed of 14 researchers from the Medical School of Hannover in Germany and12 from other research institutions, including the National Center for Biotechnology Information at the National Library of Medicine, National Institutes of Health." />
|
||
<meta property="og:updated_time" content="2015-09-29T22:03:21-04:00" />
|
||
<meta name="twitter:card" content="summary_large_image" />
|
||
<meta name="twitter:url" content="https://www.nih.gov/news-events/news-releases/scientists-identify-new-congenital-neutropenia-syndrome-causative-gene-mutation" />
|
||
<meta name="twitter:title" content="Scientists Identify New Congenital Neutropenia Syndrome and Causative" />
|
||
<meta name="twitter:description" content="A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and" />
|
||
<meta property="article:published_time" content="2015-09-29T22:02:53-04:00" />
|
||
<meta property="article:modified_time" content="2015-09-29T22:03:21-04:00" />
|
||
<meta name="published_date" content="2015-09-29T22:02:53-04:00" />
|
||
<meta name="last_revision" content="2015-09-29T22:03:21-04:00" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_PfvPCWanzn7FjDwZqwAHhPoOxYKwkQP-RZSK1pFFG0s.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css__mIWP9gcStq74isjZVoAAsiih8VXwJoN75Nyw_BXrj0.css" media="screen" />
|
||
<style media="print">#sb-container{position:relative;}#sb-overlay{display:none;}#sb-wrapper{position:relative;top:0;left:0;}#sb-loading{display:none;}
|
||
</style>
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_jENQOQqZCRFGZK__DTefxYiXR2RUf03k1ugj3_Vg7vk.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="//cdn.jsdelivr.net/qtip2/3.0.3/jquery.qtip.min.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_3yt-b0M1HNJsvKsXwYjh5TEtX2lJGAvJvtmVAfORYZs.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="//fonts.googleapis.com/css?family=Droid+Sans:700,regular|Droid+Serif:italic,regular&subset=latin" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_E4VlyxyL3JMcT6dslWLGb0uQdoI2bh_Xj0N65V-bcWo.css" media="all" />
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_5rDMv37-JxnNA70cRr_1jlAjVs56DCb8EN4XB2QLl0c.css" media="all" />
|
||
|
||
<!--[if lte IE 8]>
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_aLJB_yHt22A_mQek4IRDNsur5tEkCpqLe72j_w6QHQ0.css" media="all" />
|
||
<![endif]-->
|
||
<link type="text/css" rel="stylesheet" href="https://www.nih.gov/sites/default/files/css/css_KviiBystpJcQq4MplcQZvCFxnu9V763f5bPq_AKh4xM.css" media="all" />
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_mQAv54bz2JVXcwS5QWlz0fVY9Os67zeu9bgNqtlVLPY.js"></script>
|
||
<script src="//code.jquery.com/jquery-2.2.4.min.js"></script>
|
||
<script>window.jQuery || document.write("<script src='/sites/all/modules/contrib/jquery_update/replace/jquery/2.2/jquery.min.js'>\x3C/script>")</script>
|
||
<script>jQuery.migrateMute=true;jQuery.migrateTrace=false;</script>
|
||
<script src="//code.jquery.com/jquery-migrate-1.4.1.min.js"></script>
|
||
<script>window.jQuery && window.jQuery.migrateWarnings || document.write("<script src='/sites/all/modules/contrib/jquery_update/replace/jquery-migrate/1.4.1/jquery-migrate.min.js'>\x3C/script>")</script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_9sGTPBGcOGZjLiSLGrYEnuUf8VdvLmL_DEZNNNbnHXk.js"></script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_hNnF7a_sbk6nZ2-mOamHzalYND7HBHDLRInsaU93HDk.js"></script>
|
||
<script>document.createElement( "picture" );</script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_gHk2gWJ_Qw_jU2qRiUmSl7d8oly1Cx7lQFrqcp3RXcI.js"></script>
|
||
<script src="//cdn.jsdelivr.net/qtip2/3.0.3/jquery.qtip.min.js"></script>
|
||
<script defer="defer" src="//script.crazyegg.com/pages/scripts/0011/2616.js"></script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_3s0l7MQ3oYmGkNAypyzCJq3a0wT85XX_P1SLgnph5K4.js"></script>
|
||
<script>
|
||
Shadowbox.path = "/sites/all/libraries/shadowbox/";
|
||
</script>
|
||
<script>jQuery.extend(Drupal.settings, {"basePath":"\/","pathPrefix":"","setHasJsCookie":0,"instances":"{\u0022default\u0022:{\u0022content\u0022:{\u0022text\u0022:\u0022\u0022},\u0022style\u0022:{\u0022tip\u0022:false,\u0022classes\u0022:\u0022\u0022},\u0022position\u0022:{\u0022at\u0022:\u0022bottom right\u0022,\u0022adjust\u0022:{\u0022method\u0022:\u0022\u0022},\u0022my\u0022:\u0022top left\u0022,\u0022viewport\u0022:false},\u0022show\u0022:{\u0022event\u0022:\u0022mouseenter \u0022},\u0022hide\u0022:{\u0022event\u0022:\u0022mouseleave \u0022}}}","qtipDebug":"{\u0022leaveElement\u0022:0}","shadowbox":{"animate":true,"animateFade":true,"animSequence":"wh","auto_enable_all_images":1,"auto_gallery":1,"autoplayMovies":true,"continuous":false,"counterLimit":10,"counterType":"default","displayCounter":true,"displayNav":true,"enableKeys":true,"fadeDuration":0.34999999999999998,"handleOversize":"resize","handleUnsupported":"link","initialHeight":160,"initialWidth":320,"language":"en","modal":false,"overlayColor":"#000","overlayOpacity":0.80000000000000004,"resizeDuration":0.55000000000000004,"showMovieControls":true,"slideshowDelay":0,"viewportPadding":20,"useSizzle":false},"picture":{"mappings":[["Sidebar media mappings","sidebar_media_mappings"],["Floated media mappings","floated_media_mappings"],["Not Set","not_set"]],"label":"Image size (required)"},"extlink":{"extTarget":"_blank","extClass":"ext","extLabel":"(link is external)","extImgClass":0,"extIconPlacement":0,"extSubdomains":1,"extExclude":"(.\\.nih\\.gov.)|(.\\.cancer\\.gov.)|(.\\.genome\\.gov.)|(.\\.drugabuse\\.gov.)|(locatorplus\\.gov.)|(.\\.govdelivery\\.com.)|(.\\.hatchbuck\\.com.)|(nihseniorhealth\\.gov.)|(clinicaltrials\\.gov.)|(search\\.usa\\.gov\\\/search\\?affiliate\\=hip.)|(search\\.gov\\\/search\\?affiliate\\=hip.)|(drugabuse\\.gov.)|(medlineplus\\.gov.)|(collegedrinkingprevention\\.gov.)|(smokefree\\.gov.)|(arpa-h\\.gov.)|(nih\\.sharepoint\\.com)","extInclude":"(.\\.pagefreezer\\.com.)","extCssExclude":".media, .emergency-message, .slideshow-main, .bean-home-slideshow-2l-block","extCssExplicit":"","extAlert":"_blank","extAlertText":"You are leaving the NIH website.\r\n\r\nThis external link provides additional information that is consistent with the intended purpose of this site. NIH cannot attest to the accuracy of a non-federal site.\r\n\r\nLinking to a non-federal site does not constitute an endorsement by NIH or any of its employees of the sponsors or the information and products presented on the site. You will be subject to the destination site\u2019s privacy policy when you follow the link.","mailtoClass":"mailto","mailtoLabel":"(link sends e-mail)","extUseFontAwesome":0}});</script>
|
||
|
||
<script type="application/javascript" id="uws-snippet">
|
||
// Verint Unified WebSDK Integration Snippet v2.3
|
||
//
|
||
// Instructions: please embed this snippet directly into every page of your website template.
|
||
// For optimal performance, this should be embedded directly into the template, not referenced as
|
||
// an external file.
|
||
//
|
||
// DO NOT MODIFY BELOW THIS LINE *****************************************
|
||
(function () {
|
||
var cookies = document.cookie.split("; ").reduce(function (o, i) { var p = i.split("="); o[p[0]] = p[1]; return o; }, {});
|
||
var containerValue = cookies.uws_container_override && JSON.parse(decodeURIComponent(cookies.uws_container_override));
|
||
var config = {
|
||
moduleHost: "ucm-us.verint-cdn.com",
|
||
configHost: "ucm-us.verint-cdn.com",
|
||
siteKey: "nih-gov",
|
||
container: containerValue || "live",
|
||
loadTime: Date.now()
|
||
};
|
||
var readyCallbacks = []; window.uwsReady = function (callback) { readyCallbacks.push(callback); };
|
||
var sdkPath = "//" + [config.moduleHost, "files/sites", config.siteKey, config.container, "sdk.js"].join("/");
|
||
var script = document.createElement("script"); script.src = sdkPath; script.async = true; script.type = "module";
|
||
script.addEventListener("load", function () { window.unifiedSDK.start(config, readyCallbacks); });
|
||
document.head.appendChild(script);
|
||
})();
|
||
// DO NOT MODIFY ABOVE THIS LINE *****************************************
|
||
</script>
|
||
|
||
</head>
|
||
<body class="html not-front not-logged-in page-node page-node- page-node-24586 node-type-nih-news-release section-news-events">
|
||
<a href="#main-content" class="element-invisible element-focusable">Skip to main content</a>
|
||
<noscript aria-hidden="true"><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-5CBCNW2" height="0" width="0" style="display:none;visibility:hidden"></iframe></noscript>
|
||
<div class="l-page has-one-sidebar has-sidebar-second">
|
||
|
||
<div class="l-page-content">
|
||
|
||
<header class="l-header" role="banner">
|
||
<div class="l-ribbon-wrapper">
|
||
<ul class="l-ribbon">
|
||
<li><span class="ribbon-hhs"></span><a href="https://www.hhs.gov">U.S. Department of Health & Human Services</a><span class="ribbon-right"></span></li>
|
||
</ul>
|
||
</div> <div class="l-banner-wrapper">
|
||
<div class="l-banner">
|
||
<div class="l-branding">
|
||
<a class="nih-logo icon-nih-logo" href="/" title="National Institutes of Health (NIH) - Turning Discovery into Health" rel="home"><img src="/sites/all/themes/nih/images/nih-logo-color.png" width="390" height="60" alt="National Institutes of Health (NIH) - Turning Discovery into Health" /></a>
|
||
</div>
|
||
<!-- DigitalGov Search -->
|
||
<form accept-charset="UTF-8" action="https://search.nih.gov/search" id="search" class="search-form site-search" method="get">
|
||
<div style="margin:0;padding:0;display:inline"><input name="utf8" type="hidden" value="✓" /></div>
|
||
<input id="affiliate" name="affiliate" type="hidden" value="nih" />
|
||
<label for="query" class="hide">Search the NIH Website</label>
|
||
<input autocomplete="on" class="usagov-search-autocomplete form-field form-field-site-search" id="query" name="query" type="text" placeholder="Search NIH" /><input type="submit" name="commit" value="Search" class="form-button form-button-site-search" />
|
||
</form>
|
||
<ul class="banner-utilities">
|
||
<li><a href="/virtual-tour">Virtual Tour</a></li>
|
||
<li><a href="https://ned.nih.gov/">Staff Directory</a></li>
|
||
<li><a href="https://salud.nih.gov">En Español</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</header>
|
||
|
||
<div class="l-navigation-wrapper">
|
||
<!-- ****************** SITE MENU ****************** -->
|
||
<h2 class="element-invisible">Site Menu</h2>
|
||
<nav class="l-menu-wrapper">
|
||
<ul class="l-menu">
|
||
<!-- ********* HOME TAB (Mobile view only) ********* -->
|
||
<li class="tab-wrapper tab-wrapper-home">
|
||
<div class="tab home"><a href="/"><span>Home</span></a></div>
|
||
</li>
|
||
<!-- ********* HEALTH INFO TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-healthinfo tab-wrapper-left">
|
||
<div class="tab"><a href="/health-information"><span>Health Information</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul class="sub-menu">
|
||
<li><a href="https://www.hhs.gov/programs/social-services/health-care-facilities/index.html">Health Care Providers & Facilities</a></li>
|
||
<li><a href="/health-information/health-info-lines">Health Info Lines</a></li>
|
||
<li><a href="https://www.healthcare.gov">HealthCare.gov</a></li>
|
||
<li><a href="/research-training/science-education">Science Education Resources</a></li>
|
||
<li><a href="/health-information/nih-clinical-research-trials-you">NIH Clinical Research Trials and You</a></li>
|
||
<li><a href="/institutes-nih/nih-office-director/office-communications-public-liaison/clear-communication/talking-your-doctor">Talking to Your Doctor</a></li>
|
||
<!--<li><a href="/institutes-nih/nih-office-director/office-communications-public-liaison/clear-communication/clear-health-nih" title="">Clear Health A–Z</a></li>-->
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/health-information" title="More Health Information">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<form id="hipsearch" accept-charset="UTF-8" action="https://search.nih.gov/search" method="get" class="search-form">
|
||
<p class="subhead"><label for="query2">Search Health Topics</label></p>
|
||
<div class="input-wrapper">
|
||
<div style="margin:0;padding:0;display:inline"><input name="utf8" type="hidden" value="✓" /></div>
|
||
<input id="affiliate" name="affiliate" type="hidden" value="hip" />
|
||
<input type="hidden" name="dc" value="940" />
|
||
<input autocomplete="on" maxlength="50" class="usagov-search-autocomplete form-field form-field-search" id="query2" name="query" type="text" />
|
||
<input name="commit" type="submit" value="Go" id="searchbutton" class="form-button" />
|
||
</div>
|
||
</form>
|
||
<p class="subhead">Quick Links</p>
|
||
<ul class="sub-menu">
|
||
<li><a class="minibadge minibadge-medlineplus" href="https://medlineplus.gov/"><span class="minibadge-text">MedlinePlus Health Info</span></a></li>
|
||
<li><a class="minibadge minibadge-newsinhealth" href="https://newsinhealth.nih.gov/"><span class="minibadge-text">NIH News in Health</span></a></li>
|
||
<li><a class="minibadge minibadge-wellnesstoolkits" href="/health-information/your-healthiest-self-wellness-toolkits"><span class="minibadge-text">Wellness Toolkits</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* GRANTS TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-grants tab-wrapper-left">
|
||
<div class="tab"><a href="/grants-funding"><span>Grants & Funding</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="https://grants.nih.gov">Grants Home Page</a></li>
|
||
<li><a href="https://grants.nih.gov/funding/index.htm">Find Funding</a></li>
|
||
<li><a href="https://grants.nih.gov/grants/how-to-apply-application-guide/due-dates-and-submission-policies/due-dates.htm">Due Dates</a></li>
|
||
<li><a href="https://grants.nih.gov/grants/how-to-apply-application-guide.html">How to Apply</a></li>
|
||
<li><a href="https://grants.nih.gov/grants/about_grants.htm">About Grants</a></li>
|
||
<li><a href="https://grants.nih.gov/policy/index.htm">Policy & Compliance</a></li>
|
||
<li><a href="https://nexus.od.nih.gov/all/">Grants News/Blog</a></li>
|
||
<li><a href="https://grants.nih.gov/funding/contracts.htm">Contracts</a></li>
|
||
<li><a href="https://www.lrp.nih.gov/">Loan Repayment</a></li>
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/grants-funding" title="More Grants & Funding Information">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul>
|
||
<li><a class="minibadge minibadge-report" href="https://report.nih.gov/"><span class="minibadge-text">RePORT</span></a></li>
|
||
<li><a class="minibadge minibadge-era" href="https://commons.era.nih.gov/commons/"><span class="minibadge-text">eRA Commons</span></a></li>
|
||
<li><a class="minibadge minibadge-commonfund" href="https://commonfund.nih.gov/"><span class="minibadge-text">NIH Common Fund</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* NEWS TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-news tab-wrapper-left">
|
||
<div class="tab"><a href="/news-events"><span>News & Events</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="/news-events/news-releases">News Releases</a></li>
|
||
<li><a href="/news-events/digital-media-kits">Digital Media Kits</a></li>
|
||
<li><a href="/news-events/media-resources">Media Resources</a></li>
|
||
<li><a href="/news-events/media-contacts">Media Contacts</a></li>
|
||
<li><a href="/news-events/images-b-roll">Images and B-roll</a></li>
|
||
<li><a href="/news-events/events">Events</a></li>
|
||
<li><a href="/news-events/social-media-outreach">Social Media</a></li>
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/news-events" title="More News & Events">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul>
|
||
<li><a class="minibadge minibadge-newsinhealth" href="https://newsinhealth.nih.gov/"><span class="minibadge-text">NIH News in Health</span></a></li>
|
||
<li><a class="minibadge minibadge-researchmatters" href="/news-events/nih-research-matters"><span class="minibadge-text">NIH Research Matters</span></a></li>
|
||
<li><a class="minibadge minibadge-nihrecord" href="https://nihrecord.nih.gov/"><span class="minibadge-text">NIH Record</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* RESEARCH TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-research tab-wrapper-right">
|
||
<div class="tab"><a href="/research-training"><span>Research & Training</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="/research-training/medical-research-initiatives">Medical Research Initiatives</a></li>
|
||
<li><a href="/research-training/science-highlights">Science Highlights</a></li>
|
||
<li><a href="/research-training/science-education">Science Education</a></li>
|
||
<li><a href="/research-training/research-nih-labs-clinics">Research in NIH Labs & Clinics</a></li>
|
||
<li><a href="/research-training/training-opportunities">Training Opportunities</a></li>
|
||
<li><a href="/research-training/library-resources">Library Resources</a></li>
|
||
<li><a href="/research-training/research-resources">Research Resources</a></li>
|
||
<li><a href="/research-training/clinical-research-resources">Clinical Research Resources</a></li>
|
||
<li><a href="/research-training/safety-regulation-guidance">Safety, Regulation and Guidance</a></li>
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/research-training" title="More Research & Training">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul>
|
||
<li><a class="minibadge minibadge-pubmed" href="https://pubmed.ncbi.nlm.nih.gov"><span class="minibadge-text">PubMed</span></a></li>
|
||
<li><a class="minibadge minibadge-stemcell" href="https://stemcells.nih.gov"><span class="minibadge-text">Stem Cell Information</span></a></li>
|
||
<li><a class="minibadge minibadge-oppnet" href="https://oppnet.nih.gov"><span class="minibadge-text">OppNet</span></a></li>
|
||
<li><a class="minibadge minibadge-nidb" href="https://intramural.nih.gov"><span class="minibadge-text">NIDB</span></a></li>
|
||
<li><a class="minibadge minibadge-nihblueprint" href="https://neuroscienceblueprint.nih.gov"><span class="minibadge-text">NIH Blueprint for Neuroscience Research</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* INSTITUTES TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-institutes tab-wrapper-right">
|
||
<div class="tab"><a href="/institutes-nih"><span>Institutes at NIH</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="/institutes-nih/list-institutes-centers">List of Institutes and Centers</a></li>
|
||
<li><a href="/institutes-nih/nih-office-director">NIH Office of the Director</a></li>
|
||
<li><a href="/institutes-nih/directors-nih-institutes-centers">Directors of NIH Institutes and Centers</a></li>
|
||
<li><a href="/institutes-nih/nih-institute-center-contact-information">NIH Institute and Center Contact Information</a></li>
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/institutes-nih" title="More About the Institutes at NIH">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul class="ic-acronymn-list">
|
||
<li><a href="https://www.cancer.gov" title="National Cancer Institute">NCI</a></li>
|
||
<li><a href="https://nei.nih.gov" title="National Eye Institute">NEI</a></li>
|
||
<li><a href="https://www.nhlbi.nih.gov" title="National Heart, Lung, and Blood Institute">NHLBI</a></li>
|
||
<li><a href="https://www.genome.gov" title="National Human Genome Research Institute">NHGRI</a></li>
|
||
<li><a href="https://www.nia.nih.gov" title="National Institute on Aging">NIA</a></li>
|
||
<li><a href="https://www.niaaa.nih.gov" title="National Institute on Alcohol Abuse and Alcoholism">NIAAA</a></li>
|
||
<li><a href="https://www.niaid.nih.gov" title="National Institute of Allergy and Infectious Diseases">NIAID</a></li>
|
||
<li><a href="https://www.niams.nih.gov" title="National Institute of Arthritis and Musculoskeletal and Skin Diseases">NIAMS</a></li>
|
||
<li><a href="https://www.nibib.nih.gov" title="National Institute of Biomedical Imaging and Bioengineering">NIBIB</a></li>
|
||
<li><a href="https://www.nichd.nih.gov" title="Eunice Kennedy Shriver National Institute of Child Health and Human Development">NICHD</a></li>
|
||
<li><a href="https://www.nidcd.nih.gov" title="National Institute on Deafness and Other Communication Disorders">NIDCD</a></li>
|
||
<li><a href="https://www.nidcr.nih.gov" title="National Institute of Dental and Craniofacial Research">NIDCR</a></li>
|
||
<li><a href="https://www.niddk.nih.gov" title="National Institute of Diabetes and Digestive and Kidney Diseases">NIDDK</a></li>
|
||
<li><a href="https://nida.nih.gov" title="National Institute on Drug Abuse">NIDA</a></li>
|
||
<li><a href="https://www.niehs.nih.gov" title="National Institute of Environmental Health Sciences">NIEHS</a></li>
|
||
<li><a href="https://www.nigms.nih.gov" title="National Institute of General Medical Sciences">NIGMS</a></li>
|
||
<li><a href="https://www.nimh.nih.gov" title="National Institute of Mental Health">NIMH</a></li>
|
||
<li><a href="https://www.nimhd.nih.gov" title="National Institute on Minority Health and Health Disparities">NIMHD</a></li>
|
||
<li><a href="https://www.ninds.nih.gov" title="National Institute of Neurological Disorders and Stroke">NINDS</a></li>
|
||
<li><a href="https://www.ninr.nih.gov" title="National Institute of Nursing Research">NINR</a></li>
|
||
<li><a href="https://www.nlm.nih.gov" title="National Library of Medicine">NLM</a></li>
|
||
<li><a href="https://www.cc.nih.gov" title="NIH Clinical Center">CC</a></li>
|
||
<li><a href="https://www.cit.nih.gov" title="Center for Information Technology">CIT</a></li>
|
||
<li><a href="https://www.csr.nih.gov" title="Center for Scientific Review">CSR</a></li>
|
||
<li><a href="https://www.fic.nih.gov" title="Fogarty International Center">FIC</a></li>
|
||
<li><a href="https://ncats.nih.gov" title="National Center for Advancing Translational Sciences">NCATS</a></li>
|
||
<li><a href="https://nccih.nih.gov" title="National Center for Complementary and Integrative Health">NCCIH</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
<!-- ********* ABOUT TAB ********* -->
|
||
<li class="tab-wrapper tab-wrapper-about tab-wrapper-right">
|
||
<div class="tab"><a href="/about-nih"><span>About NIH</span></a></div>
|
||
<div class="megamenu">
|
||
<div class="megamenu-col megamenu-leftcol">
|
||
<ul>
|
||
<li><a href="/about-nih/who-we-are">Who We Are</a></li>
|
||
<li><a href="/about-nih/what-we-do">What We Do</a></li>
|
||
<li><a href="https://hr.nih.gov/jobs">Jobs at NIH</a></li>
|
||
<li><a href="/about-nih/visitor-information">Visitor Information</a></li>
|
||
<li><a href="/about-nih/frequently-asked-questions">Frequently Asked Questions</a></li>
|
||
<li><a href="/about-nih/contact-us">Contact Us</a></li>
|
||
<!--<li><a href="/about-nih/explore-nih">Explore NIH</a></li>-->
|
||
</ul>
|
||
<p class="more-wrapper"><a class="button gold" href="/about-nih" title="More About NIH">More »</a></p>
|
||
</div>
|
||
<div class="megamenu-col megamenu-rightcol">
|
||
<p class="subhead">Quick Links</p>
|
||
<ul>
|
||
<li><a href="/about-nih/who-we-are/nih-director">The NIH Director</a></li>
|
||
<li><a href="/virtual-tour">Take the Virtual Tour</a></li>
|
||
<li><a href="/about-nih/what-we-do/nih-turning-discovery-into-health">NIH…Turning Discovery Into Health<sup>®</sup></a></li>
|
||
<li><a href="/about-nih/what-we-do/impact-nih-research">Impact of NIH Research</a></li>
|
||
<li><a href="/about-nih/what-we-do/science-health-public-trust">Science, Health, and Public Trust</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</li>
|
||
</ul>
|
||
<div class="tab-bkgnd"></div><!-- For pixel rounding issue -->
|
||
</nav>
|
||
<!-- ****************** END SITE MENU ****************** -->
|
||
</div>
|
||
|
||
<div class="l-main-wrapper">
|
||
<div class="l-main" id="page-content">
|
||
<h2 class="element-invisible">You are here</h2><div class="breadcrumb"><a href="/">Home</a> » <a href="/news-events">News & Events</a> » <a href="/news-events/news-releases">News Releases</a></div> <div class="l-region l-region--section-header">
|
||
<div id="block-block-96" class="block block--block sectionheader block--block-96" id="block-block-96" class="block block--block sectionheader block--block-96">
|
||
|
||
|
||
<div class="content" class="block__content">
|
||
<h2><a href="/news-events/news-releases">News Releases</a></h2> </div>
|
||
</div>
|
||
</div>
|
||
<div class="l-content-wrapper">
|
||
<div class="l-content" role="main">
|
||
<a id="main-content"></a>
|
||
<div about="/news-events/news-releases/scientists-identify-new-congenital-neutropenia-syndrome-causative-gene-mutation" typeof="sioc:Item foaf:Document" class="ds-1col node node--nih-news-release news-release view-mode-full node--full node--nih-news-release--full clearfix">
|
||
|
||
|
||
<p class="publishdate"><span class="tag-term">News Release</span></p><p class="publishdate"><span property="dc:date" datatype="xsd:dateTime" content="2008-12-31T17:00:00-05:00" class="date-display-single">Wednesday, December 31, 2008</span></p><h1>Scientists Identify New Congenital Neutropenia Syndrome and Causative Gene Mutation</h1><p class="subtitle">
|
||
<p>A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3). The findings, which are published in the Jan. 1, 2009 issue of <em>The New England Journal of Medicine</em>, were made by an international team of scientists, composed of 14 researchers from the Medical School of Hannover in Germany and12 from other research institutions, including the National Center for Biotechnology Information at the National Library of Medicine, National Institutes of Health.</p>
|
||
|
||
<p>"Our discovery will help facilitate genetic diagnosis in this newly defined group of severe congenital neutropenia patients," said Christoph Klein, M.D., Ph.D., Hannover Medical School, the principal investigator of the study. "Knowledge about the underlying genetic defect is an important first step in developing a targeted therapy."</p>
|
||
|
||
<p>The research also identified a novel pathway that is critical in controlling the life and death of immune cells. "This may eventually open new horizons for the development of drugs interfering with that pathway, which is important not only for patients with SCN, but potentially also for patients with other blood disorders," said Kaan Boztug, M.D., Hannover Medical School, lead author of the study.</p>
|
||
|
||
<p>Severe congenital neutropenia (SCN) is a rare disorder, with an incidence of less than one in 200,000 births. The disorder is characterized by insufficient quantity of neutrophils, a type of white blood cell important in fighting infection. Children born with SCN suffer from frequent bacterial infections, and until the introduction of treatment with recombinant human granulocyte colony-stimulating factor (GCSF) in the 1990s, about three-fourths of affected children would die before 3 years of age. Treatment with GCSF usually reduces the duration and severity of neutropenia and results in improved clinical outcome and survival. However, SCN patients eventually may develop myelodysplasia or acute myelogenous leukemia.</p>
|
||
|
||
<p>In recent years, significant progress has been made in identifying the genetic defects that cause SCN, but in many patients, the underlying genetic cause remains unknown. The most common cause of inherited SCN is a heterozygous mutation (where one copy of the gene is mutated and the other is not) in the neutrophil elastase (ELA2) gene. In 2007, Klein’s lab identified another causative mutation in a subgroup of SCN patients: homozygous mutations (where the defect is present in both copies of the gene) in the HAX1 gene.</p>
|
||
|
||
<p>To conduct the current study, the researchers focused on five children of Turkish descent, four of whom were known to be related; the children did not have identified mutations but had recessive SCN (i.e., the children inherited mutations from both of their parents, who each carried one mutated gene but were themselves unaffected). The children were identified for the study using the SCN International Registry.</p>
|
||
|
||
<p>A researcher from NCBI analyzed data on the children to look for suspect genes, and determined that the gene of interest was among 258 on chromosome 17. Further positional analysis at NCBI reduced the number of suspect genes to 36. A big break in the research came in early 2007 when a team headed by Janice Chou, Ph.D., at NIH’s National Institute of Child Health and Human Development, published research showing impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking the protein glucose-6-phosphatase, catalytic subunit 3 (also known as G6PC3). The G6PC3 gene happened to be among the 36 genes Klein’s team was examining, and DNA analysis indeed showed that all five study patients had the same mutations in this gene.</p>
|
||
|
||
<p>The researchers then sequenced the DNA of 104 additional patients from the SCN International Registry with unknown mutations and found G6PC3 mutations in seven. These seven children had different types of G6PC3 mutations than the original five study subjects, but they shared a constellation of clinical symptoms. Eleven of the 12 patients had heart defects or urogenital malformations, and 10 had unusually prominent subcutaneous veins. This grouping of clinical characteristics has not previously been described with SCN and defines a new syndrome associated with G6PC3 mutation.</p>
|
||
|
||
<p>The study also clarifies the importance of maintaining adequate glucose levels in keeping neutrophils alive and ensuring an adequate immune response to infections. The researchers found that insufficient supply of glucose causes neutrophils to undergo stress, and if the body’s stress response is not adequate, the neutrophils will die. This connection between insufficient glucose and cellular stress response may be relevant to other more common diseases, especially those related to glucose disorders and glycogen-storage disorders.</p>
|
||
|
||
<p>"The study’s findings are important for the care of patients with SCN, and for building an understanding of the diverse genetic causes of this disease," said David Dale, M.D., University of Washington, who wrote an accompanying editorial on the study in <em>The New England Journal of Medicine</em>. "We do not know yet if patients with mutations in the G6PC pathway are at risk of developing leukemia and if they will need as frequent blood tests as other SCN patients. Knowledge of G6PC3 mutations will also alert physicians to look for cardiac defects in children with severe neutropenia as a clue to making this specific diagnosis."</p>
|
||
|
||
<p>The National Center for Biotechnology Information (NCBI) creates public databases, conducts research in computational biology, develops software tools for analyzing molecular and genomic data, and disseminates biomedical information, all for the better understanding of processes affecting human health and disease. NCBI (<a href="http://www.ncbi.nlm.nih.gov/">www.ncbi.nlm.nih.gov</a>) is a division of the National Library of Medicine, the world's largest library of the health sciences. For more information, visit the Web site at <a href="http://www.nlm.nih.gov/">www.nlm.nih.gov</a>.</p>
|
||
|
||
<p>The National Institute of Child Health and Human Development (NICHD) sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute's Web site at<a href="http://www.nichd.nih.gov/">www.nichd.nih.gov</a>.</p>
|
||
<p><strong>About the National Institutes of Health (NIH):</strong>
|
||
NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit <a href="/">www.nih.gov</a>.</p>
|
||
|
||
<p class="slogan"><em>NIH…Turning Discovery Into Health<sup>®</sup></em></p><p
|
||
class='hashtags'>###</p>
|
||
|
||
|
||
</div>
|
||
|
||
<div class="lastupdated">
|
||
</div> </div>
|
||
<aside class="l-region l-region--sidebar-second masonry-container">
|
||
<div id="block-ds-extras-nih-news-release-page-ds" class="block block--ds-extras block--ds-extras-nih-news-release-page-ds" id="block-ds-extras-nih-news-release-page-ds" class="block block--ds-extras block--ds-extras-nih-news-release-page-ds">
|
||
|
||
|
||
<div class="content" class="block__content">
|
||
<div class="box"><h3 class="label-above">Institute/Center</h3><p><a href="http://www.nlm.nih.gov/">National Library of Medicine (NLM)</a></p></div><div class="box"><h3 class="label-above">Contact</h3><div class="paragraph">
|
||
<div class="field--contact-name">
|
||
<a href="mailto:Kathleen.Cravedi@nih.gov">Kathy Cravedi</a> </div>
|
||
|
||
<div class="field--contact-number">
|
||
301-496-6308 </div>
|
||
</div></div > </div>
|
||
</div>
|
||
<div id="block-bean-news-releases-connect-with-us" class="block block--bean box block--bean-news-releases-connect-with-us" id="block-bean-news-releases-connect-with-us" class="block block--bean box block--bean-news-releases-connect-with-us">
|
||
|
||
<h3 class="block__title">Connect with Us</h3>
|
||
|
||
<div class="content" class="block__content">
|
||
<div about="/block/news-releases---connect-with-us" class="ds-1col entity entity-bean bean-basic-block view-mode-default clearfix">
|
||
|
||
|
||
<ul class="icon-list">
|
||
<li><a class="icon-link email-monochrome" href="https://service.govdelivery.com/accounts/USNIH/subscriber/new?topic_id=USNIH_1" onclick="window.open(this.href,'popup','width=725,height=500,left=25,top=25,location=no,resizable=yes,scrollbars=yes,status=yes');return false;" target="_blank" title="Subscribe."><span class="icon"></span>Subscribe to news releases</a></li>
|
||
<li><a class="icon-link rss-monochrome" href="/news-releases/feed.xml"><span class="icon"></span>RSS Feed</a></li>
|
||
</ul></div>
|
||
|
||
</div>
|
||
</div>
|
||
</aside>
|
||
</div>
|
||
<div class="l-connect-wrapper">
|
||
<div class="l-connect">
|
||
<h2 class="element-invisible">Connect with Us</h2>
|
||
<ul>
|
||
<li><a class="contactus-monochrome" href="/about-nih/contact-us"><span class="icon"></span>Contact Us</a></li>
|
||
<li><a class="twitter-monochrome" href="https://twitter.com/NIH"><span class="icon"></span>X</a></li>
|
||
<li><a class="facebook-monochrome" href="https://www.facebook.com/nih.gov"><span class="icon"></span>Facebook</a></li>
|
||
<li><a class="instagram-monochrome" href="https://www.instagram.com/nihgov/"><span class="icon"></span>Instagram</a></li>
|
||
<li><a class="youtube-monochrome" href="https://www.youtube.com/user/nihod"><span class="icon"></span>YouTube</a></li>
|
||
<li><a class="flickr-monochrome" href="https://www.flickr.com/photos/nihgov/"><span class="icon"></span>Flickr</a></li>
|
||
<li><a class="social-monochrome" href="/news-events/social-media-outreach"><span class="icon"></span>More Social Media from NIH</a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="l-footer-wrapper">
|
||
<footer class="l-footer" role="contentinfo">
|
||
<h2 class="element-invisible">Footer</h2>
|
||
<ul>
|
||
<li><a href="/">NIH Home</a></li>
|
||
<li><a href="/virtual-tour">Virtual Tour</a></li>
|
||
<li><a href="https://salud.nih.gov">En Español</a></li>
|
||
<li><a href="/about-nih/visitor-information">Visitor Information</a></li>
|
||
<li><a href="/about-nih/frequently-asked-questions">Frequently Asked Questions</a></li>
|
||
<li><a href="/privacy-policy">Privacy Policy</a></li>
|
||
<li><a href="/disclaimers">Disclaimers</a></li>
|
||
<li><a href="/accessibility">Accessibility</a></li>
|
||
<li><a href="/nih-website-archives">NIH Website Archives</a></li>
|
||
</ul>
|
||
<ul>
|
||
<li><a href="/nondiscrimination-notice">Nondiscrimination Notice</a></li>
|
||
<li><a href="/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office">Freedom of Information Act</a></li>
|
||
<li><a href="https://www.edi.nih.gov/no-fear-act">No Fear Act</a></li>
|
||
<li><a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html">HHS Vulnerability Disclosure</a></li>
|
||
<li><a href="https://oig.hhs.gov">Office of Inspector General</a></li>
|
||
<li><a class="lastTab" href="https://www.usa.gov/">USA.gov</a></li>
|
||
</ul>
|
||
<p>NIH…Turning Discovery Into Health<sup>®</sup></p>
|
||
<p>National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland 20892</p>
|
||
<p><a href="https://www.hhs.gov">U.S. Department of Health and Human Services</a></p>
|
||
</footer>
|
||
</div>
|
||
|
||
<div class="back-to-top"><a href="#"><span class="icon-arrow-up"></span><span class="text">Back to Top</span></a></div>
|
||
|
||
</div>
|
||
|
||
</div>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_7Ukqb3ierdBEL0eowfOKzTkNu-Le97OPm-UqTS5NENU.js"></script>
|
||
<script src="https://www.nih.gov/sites/default/files/js/js_E9yUYWK8EMydR0HMIp2PahVxPAClXyH0Cnh782A15UM.js"></script>
|
||
</body>
|
||
</html>
|
||
|