275 lines
138 KiB
Text
275 lines
138 KiB
Text
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" class="no-js no-jr">
|
|
<head>
|
|
<!-- For pinger, set start time and add meta elements. -->
|
|
<script type="text/javascript">var ncbi_startTime = new Date();</script>
|
|
|
|
<!-- Logger begin -->
|
|
<meta name="ncbi_db" content="books">
|
|
<meta name="ncbi_pdid" content="book-part">
|
|
<meta name="ncbi_acc" content="NBK299311">
|
|
<meta name="ncbi_domain" content="gene">
|
|
<meta name="ncbi_report" content="reader">
|
|
<meta name="ncbi_type" content="fulltext">
|
|
<meta name="ncbi_objectid" content="">
|
|
<meta name="ncbi_pcid" content="/NBK299311/?report=reader">
|
|
<meta name="ncbi_pagename" content="ACTG2 Visceral Myopathy - GeneReviews® - NCBI Bookshelf">
|
|
<meta name="ncbi_bookparttype" content="chapter">
|
|
<meta name="ncbi_app" content="bookshelf">
|
|
<!-- Logger end -->
|
|
|
|
<!--component id="Page" label="meta"/-->
|
|
<script type="text/javascript" src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.boots.min.js"> </script><title>ACTG2 Visceral Myopathy - GeneReviews® - NCBI Bookshelf</title>
|
|
<meta charset="utf-8">
|
|
<meta name="apple-mobile-web-app-capable" content="no">
|
|
<meta name="viewport" content="initial-scale=1,minimum-scale=1,maximum-scale=1,user-scalable=no">
|
|
<meta name="jr-col-layout" content="auto">
|
|
<meta name="jr-prev-unit" content="/books/n/gene/aars2-dis/?report=reader">
|
|
<meta name="jr-next-unit" content="/books/n/gene/adamtsl4-eyes/?report=reader">
|
|
<meta name="bk-toc-url" content="/books/n/gene/?report=toc">
|
|
<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE">
|
|
<meta name="citation_inbook_title" content="GeneReviews® [Internet]">
|
|
<meta name="citation_title" content="ACTG2 Visceral Myopathy">
|
|
<meta name="citation_publisher" content="University of Washington, Seattle">
|
|
<meta name="citation_date" content="2021/05/06">
|
|
<meta name="citation_author" content="Pranjali K Bhagwat">
|
|
<meta name="citation_author" content="Michael F Wangler">
|
|
<meta name="citation_pmid" content="26072522">
|
|
<meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK299311/">
|
|
<meta name="citation_keywords" content="Berdon Syndrome">
|
|
<meta name="citation_keywords" content="Familial Visceral Myopathy">
|
|
<meta name="citation_keywords" content="Familial Visceral Myopathy">
|
|
<meta name="citation_keywords" content="Berdon Syndrome">
|
|
<meta name="citation_keywords" content="Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome">
|
|
<meta name="citation_keywords" content="Prune Belly Sequence">
|
|
<meta name="citation_keywords" content="Chronic Intestinal Pseudoobstruction (CIPO)">
|
|
<meta name="citation_keywords" content="Actin, gamma-enteric smooth muscle">
|
|
<meta name="citation_keywords" content="ACTG2">
|
|
<meta name="citation_keywords" content="ACTG2 Visceral Myopathy">
|
|
<link rel="schema.DC" href="http://purl.org/DC/elements/1.0/">
|
|
<meta name="DC.Title" content="ACTG2 Visceral Myopathy">
|
|
<meta name="DC.Type" content="Text">
|
|
<meta name="DC.Publisher" content="University of Washington, Seattle">
|
|
<meta name="DC.Contributor" content="Pranjali K Bhagwat">
|
|
<meta name="DC.Contributor" content="Michael F Wangler">
|
|
<meta name="DC.Date" content="2021/05/06">
|
|
<meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK299311/">
|
|
<meta name="description" content="ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end.">
|
|
<meta name="og:title" content="ACTG2 Visceral Myopathy">
|
|
<meta name="og:type" content="book">
|
|
<meta name="og:description" content="ACTG2 visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end.">
|
|
<meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK299311/">
|
|
<meta name="og:site_name" content="NCBI Bookshelf">
|
|
<meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png">
|
|
<meta name="twitter:card" content="summary">
|
|
<meta name="twitter:site" content="@ncbibooks">
|
|
<meta name="bk-non-canon-loc" content="/books/n/gene/actg2-dis/?report=reader">
|
|
<link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK299311/">
|
|
<link href="https://fonts.googleapis.com/css?family=Archivo+Narrow:400,700,400italic,700italic&subset=latin" rel="stylesheet" type="text/css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/jatsreader/ptpmc_3.22/css/libs.min.css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/jatsreader/ptpmc_3.22/css/jr.min.css">
|
|
<meta name="format-detection" content="telephone=no">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css//books_print.min.css" type="text/css" media="print">
|
|
<link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_reader.min.css" type="text/css">
|
|
<style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style>
|
|
|
|
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico">
|
|
<meta name="ncbi_phid" content="CE8D6E657C8288010000000000130010.m_5">
|
|
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/css/3852956/3849091.css"></head>
|
|
<body>
|
|
<!-- Book content! -->
|
|
|
|
|
|
<div id="jr" data-jr-path="/corehtml/pmc/jatsreader/ptpmc_3.22/"><div class="jr-unsupported"><table class="modal"><tr><td><span class="attn inline-block"></span><br />Your browser does not support the NLM PubReader view.<br />Go to <a href="/pmc/about/pr-browsers/">this page</a> to see a list of supported browsers<br />or return to the <br /><a href="/books/NBK299311/?report=classic">regular view</a>.</td></tr></table></div><div id="jr-ui" class="hidden"><nav id="jr-head"><div class="flexh tb"><div id="jr-tb1"><a id="jr-links-sw" class="hidden" title="Links"><svg xmlns="http://www.w3.org/2000/svg" version="1.1" x="0px" y="0px" viewBox="0 0 70.6 85.3" style="enable-background:new 0 0 70.6 85.3;vertical-align:middle" xml:space="preserve" width="24" height="24">
|
|
<style type="text/css">.st0{fill:#939598;}</style>
|
|
<g>
|
|
<path class="st0" d="M36,0C12.8,2.2-22.4,14.6,19.6,32.5C40.7,41.4-30.6,14,35.9,9.8"></path>
|
|
<path class="st0" d="M34.5,85.3c23.2-2.2,58.4-14.6,16.4-32.5c-21.1-8.9,50.2,18.5-16.3,22.7"></path>
|
|
<path class="st0" d="M34.7,37.1c66.5-4.2-4.8-31.6,16.3-22.7c42.1,17.9,6.9,30.3-16.4,32.5h1.7c-66.2,4.4,4.8,31.6-16.3,22.7 c-42.1-17.9-6.9-30.3,16.4-32.5"></path>
|
|
</g>
|
|
</svg> Books</a></div><div class="jr-rhead f1 flexh"><div class="head"><a href="/books/n/gene/aars2-dis/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="body"><div class="t">ACTG2 Visceral Myopathy</div><div class="j">GeneReviews® [Internet]</div></div><div class="tail"><a href="/books/n/gene/adamtsl4-eyes/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></div><div id="jr-tb2"><a id="jr-bkhelp-sw" class="btn wsprkl hidden" title="Help with NLM PubReader">?</a><a id="jr-help-sw" class="btn wsprkl hidden" title="Settings and typography in NLM PubReader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512" preserveAspectRatio="none"><path d="M462,283.742v-55.485l-29.981-10.662c-11.431-4.065-20.628-12.794-25.274-24.001 c-0.002-0.004-0.004-0.009-0.006-0.013c-4.659-11.235-4.333-23.918,0.889-34.903l13.653-28.724l-39.234-39.234l-28.72,13.652 c-10.979,5.219-23.68,5.546-34.908,0.889c-0.005-0.002-0.01-0.003-0.014-0.005c-11.215-4.65-19.933-13.834-24-25.273L283.741,50 h-55.484l-10.662,29.981c-4.065,11.431-12.794,20.627-24.001,25.274c-0.005,0.002-0.009,0.004-0.014,0.005 c-11.235,4.66-23.919,4.333-34.905-0.889l-28.723-13.653l-39.234,39.234l13.653,28.721c5.219,10.979,5.545,23.681,0.889,34.91 c-0.002,0.004-0.004,0.009-0.006,0.013c-4.649,11.214-13.834,19.931-25.271,23.998L50,228.257v55.485l29.98,10.661 c11.431,4.065,20.627,12.794,25.274,24c0.002,0.005,0.003,0.01,0.005,0.014c4.66,11.236,4.334,23.921-0.888,34.906l-13.654,28.723 l39.234,39.234l28.721-13.652c10.979-5.219,23.681-5.546,34.909-0.889c0.005,0.002,0.01,0.004,0.014,0.006 c11.214,4.649,19.93,13.833,23.998,25.271L228.257,462h55.484l10.595-29.79c4.103-11.538,12.908-20.824,24.216-25.525 c0.005-0.002,0.009-0.004,0.014-0.006c11.127-4.628,23.694-4.311,34.578,0.863l28.902,13.738l39.234-39.234l-13.66-28.737 c-5.214-10.969-5.539-23.659-0.886-34.877c0.002-0.005,0.004-0.009,0.006-0.014c4.654-11.225,13.848-19.949,25.297-24.021 L462,283.742z M256,331.546c-41.724,0-75.548-33.823-75.548-75.546s33.824-75.547,75.548-75.547 c41.723,0,75.546,33.824,75.546,75.547S297.723,331.546,256,331.546z"></path></svg></a><a id="jr-fip-sw" class="btn wsprkl hidden" title="Find"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 550 600" preserveAspectRatio="none"><path fill="none" stroke="#000" stroke-width="36" stroke-linecap="round" style="fill:#FFF" d="m320,350a153,153 0 1,0-2,2l170,170m-91-117 110,110-26,26-110-110"></path></svg></a><a id="jr-rtoc-sw" class="btn wsprkl hidden" title="Table of Contents"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M20,20h10v8H20V20zM36,20h44v8H36V20zM20,37.33h10v8H20V37.33zM36,37.33h44v8H36V37.33zM20,54.66h10v8H20V54.66zM36,54.66h44v8H36V54.66zM20,72h10v8 H20V72zM36,72h44v8H36V72z"></path></svg></a></div></div></nav><nav id="jr-dash" class="noselect"><nav id="jr-dash" class="noselect"><div id="jr-pi" class="hidden"><a id="jr-pi-prev" class="hidden" title="Previous page"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a><div class="pginfo">Page <i class="jr-pg-pn">0</i> of <i class="jr-pg-lp">0</i></div><a id="jr-pi-next" class="hidden" title="Next page"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div><div id="jr-is-tb"><a id="jr-is-sw" class="btn wsprkl hidden" title="Switch between Figures/Tables strip and Progress bar"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><rect x="10" y="40" width="20" height="20"></rect><rect x="40" y="40" width="20" height="20"></rect><rect x="70" y="40" width="20" height="20"></rect></svg></a></div><nav id="jr-istrip" class="istrip hidden"><a id="jr-is-prev" href="#" class="hidden" title="Previous"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M80,40 60,65 80,90 70,90 50,65 70,40z M50,40 30,65 50,90 40,90 20,65 40,40z"></path><text x="35" y="25" textLength="60" style="font-size:25px">Prev</text></svg></a><a id="jr-is-next" href="#" class="hidden" title="Next"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M20,40 40,65 20,90 30,90 50,65 30,40z M50,40 70,65 50,90 60,90 80,65 60,40z"></path><text x="15" y="25" textLength="60" style="font-size:25px">Next</text></svg></a></nav><nav id="jr-progress"></nav></nav></nav><aside id="jr-links-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">NCBI Bookshelf</div></div><div class="cnt lol f1"><a href="/books/">Home</a><a href="/books/browse/">Browse All Titles</a><a class="btn share" target="_blank" rel="noopener noreferrer" href="https://www.facebook.com/sharer/sharer.php?u=https://www.ncbi.nlm.nih.gov/books/NBK299311/"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 33 33" style="vertical-align:middle" width="24" height="24" preserveAspectRatio="none"><g><path d="M 17.996,32L 12,32 L 12,16 l-4,0 l0-5.514 l 4-0.002l-0.006-3.248C 11.993,2.737, 13.213,0, 18.512,0l 4.412,0 l0,5.515 l-2.757,0 c-2.063,0-2.163,0.77-2.163,2.209l-0.008,2.76l 4.959,0 l-0.585,5.514L 18,16L 17.996,32z"></path></g></svg> Share on Facebook</a><a class="btn share" target="_blank" rel="noopener noreferrer" href="https://twitter.com/intent/tweet?url=https://www.ncbi.nlm.nih.gov/books/NBK299311/&text=ACTG2%20Visceral%20Myopathy"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 33 33" style="vertical-align:middle" width="24" height="24"><g><path d="M 32,6.076c-1.177,0.522-2.443,0.875-3.771,1.034c 1.355-0.813, 2.396-2.099, 2.887-3.632 c-1.269,0.752-2.674,1.299-4.169,1.593c-1.198-1.276-2.904-2.073-4.792-2.073c-3.626,0-6.565,2.939-6.565,6.565 c0,0.515, 0.058,1.016, 0.17,1.496c-5.456-0.274-10.294-2.888-13.532-6.86c-0.565,0.97-0.889,2.097-0.889,3.301 c0,2.278, 1.159,4.287, 2.921,5.465c-1.076-0.034-2.088-0.329-2.974-0.821c-0.001,0.027-0.001,0.055-0.001,0.083 c0,3.181, 2.263,5.834, 5.266,6.438c-0.551,0.15-1.131,0.23-1.73,0.23c-0.423,0-0.834-0.041-1.235-0.118 c 0.836,2.608, 3.26,4.506, 6.133,4.559c-2.247,1.761-5.078,2.81-8.154,2.81c-0.53,0-1.052-0.031-1.566-0.092 c 2.905,1.863, 6.356,2.95, 10.064,2.95c 12.076,0, 18.679-10.004, 18.679-18.68c0-0.285-0.006-0.568-0.019-0.849 C 30.007,8.548, 31.12,7.392, 32,6.076z"></path></g></svg> Share on Twitter</a></div></aside><aside id="jr-rtoc-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Table of Content</div></div><div class="cnt lol f1"><a href="/books/n/gene/?report=reader">Title Information</a><a href="/books/n/gene/toc/?report=reader">Table of Contents Page</a></div></aside><aside id="jr-help-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Settings</div></div><div class="cnt f1"><div id="jr-typo-p" class="typo"><div><a class="sf btn wsprkl">A-</a><a class="lf btn wsprkl">A+</a></div><div><a class="bcol-auto btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 200 100" preserveAspectRatio="none"><text x="10" y="70" style="font-size:60px;font-family: Trebuchet MS, ArialMT, Arial, sans-serif" textLength="180">AUTO</text></svg></a><a class="bcol-1 btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M15,25 85,25zM15,40 85,40zM15,55 85,55zM15,70 85,70z"></path></svg></a><a class="bcol-2 btn wsprkl"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M5,25 45,25z M55,25 95,25zM5,40 45,40z M55,40 95,40zM5,55 45,55z M55,55 95,55zM5,70 45,70z M55,70 95,70z"></path></svg></a></div></div><div class="lol"><a class="" href="/books/NBK299311/?report=classic">Switch to classic view</a><a href="/books/NBK299311/pdf/Bookshelf_NBK299311.pdf">PDF (512K)</a><a href="/books/NBK299311/?report=printable">Print View</a></div></div></aside><aside id="jr-bkhelp-p" class="hidden flexv"><div class="tb sk-htbar flexh"><div><a class="jr-p-close btn wsprkl">Done</a></div><div class="title-text f1">Help</div></div><div class="cnt f1 lol"><a id="jr-helpobj-sw" data-path="/corehtml/pmc/jatsreader/ptpmc_3.22/" data-href="/corehtml/pmc/jatsreader/ptpmc_3.22/img/bookshelf/help.xml" href="">Help</a><a href="mailto:info@ncbi.nlm.nih.gov?subject=PubReader%20feedback%20%2F%20NBK299311%20%2F%20sid%3ACE8B5AF87C7FFCB1_0191SID%20%2F%20phid%3ACE8D6E657C8288010000000000130010.4">Send us feedback</a><a id="jr-about-sw" data-path="/corehtml/pmc/jatsreader/ptpmc_3.22/" data-href="/corehtml/pmc/jatsreader/ptpmc_3.22/img/bookshelf/about.xml" href="">About PubReader</a></div></aside><aside id="jr-objectbox" class="thidden hidden"><div class="jr-objectbox-close wsprkl">✘</div><div class="jr-objectbox-inner cnt"><div class="jr-objectbox-drawer"></div></div></aside><nav id="jr-pm-left" class="hidden"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 800" preserveAspectRatio="none"><text font-stretch="ultra-condensed" x="800" y="-15" text-anchor="end" transform="rotate(90)" font-size="18" letter-spacing=".1em">Previous Page</text></svg></nav><nav id="jr-pm-right" class="hidden"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 800" preserveAspectRatio="none"><text font-stretch="ultra-condensed" x="800" y="-15" text-anchor="end" transform="rotate(90)" font-size="18" letter-spacing=".1em">Next Page</text></svg></nav><nav id="jr-fip" class="hidden"><nav id="jr-fip-term-p"><input type="search" placeholder="search this page" id="jr-fip-term" autocorrect="off" autocomplete="off" /><a id="jr-fip-mg" class="wsprkl btn" title="Find"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 550 600" preserveAspectRatio="none"><path fill="none" stroke="#000" stroke-width="36" stroke-linecap="round" style="fill:#FFF" d="m320,350a153,153 0 1,0-2,2l170,170m-91-117 110,110-26,26-110-110"></path></svg></a><a id="jr-fip-done" class="wsprkl btn" title="Dismiss find">✘</a></nav><nav id="jr-fip-info-p"><a id="jr-fip-prev" class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK299311_"><span class="title" itemprop="name"><i>ACTG2</i> Visceral Myopathy</span></h1><div itemprop="alternativeHeadline" class="subtitle whole_rhythm">Synonyms: Berdon Syndrome, Familial Visceral Myopathy</div><p class="contribs">Bhagwat PK, Wangler MF.</p><p class="fm-aai"><a href="#_NBK299311_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 22 minutes</em></p></div></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="actg2-dis.Summary" itemprop="description"><h2 id="_actg2-dis_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p><i>ACTG2</i> visceral myopathy is a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system with phenotypic spectrum that ranges from mild to severe. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic intestinal pseudoobstruction (CIPO) in neonates at the more severe end to intermittent abdominal distention and functional intestinal obstruction at the milder end.</p><p>Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood often experience episodic waxing and waning of bowel motility. They may undergo frequent abdominal surgeries (perhaps related to malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition (TPN).</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of <i>ACTG2</i> visceral myopathy is established in a proband with suggestive findings and a heterozygous <i>ACTG2</i> pathogenic variant identified by molecular genetic testing<i>.</i></p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations.</i> Treatment is supportive. Specialized centers offer multidisciplinary medical and surgical models of care including comprehensive TPN management and multivisceral transplantation. Chronic bladder dysfunction typically requires management by a urologist and can involve routine urinary catheterization or diversion to reduce the risk of dilation of the upper urinary tract and associated risk for urinary tract infection and renal functional impairment. Bowel dysfunction, microcolon, intestinal dysmotility, and associated gastrointestinal comorbidities typically require management by a gastroenterologist and nutritionist familiar with intestinal motility disorders.</p><p><i>Surveillance:</i> Surveillance should be individualized using a multidisciplinary approach.</p><p>For bladder and urinary tract comorbidities, monitor voiding, urinary tract anatomy, and renal function.</p><p>For intestinal manifestations, monitor nutritional status and possible TPN-associated complications (line infections, liver disease) and consider need for multivisceral or isolated intestinal transplantation.</p><p><i>Agents/circumstances to avoid:</i> Treatment/medications (including opioids) to be avoided or limited include those that diminish bowel and bladder motility.</p><p><i>Evaluation of relatives at risk:</i> It is appropriate to clarify the genetic status of relatives at risk as early diagnosis may help prevent unnecessary surgery for manifestations of intestinal obstruction and may allow early evaluation of bladder and renal function, and of the urinary tract for evidence of dilatation.</p><p><i>Pregnancy management:</i> When a fetus at risk for <i>ACTG2</i> visceral myopathy has evidence of bladder distention on prenatal ultrasound examination, consultation with a maternal fetal medicine specialist is recommended.</p></div><div><h4 class="inline">Genetic counseling.</h4><p><i>ACTG2</i> visceral myopathy is typically inherited in an autosomal dominant manner. (Apparent autosomal recessive inheritance, suggested in one family, is not discussed further in the Summary.)</p><p>Approximately 73% of individuals with <i>ACTG2</i> visceral myopathy have a <i>de novo</i> pathogenic variant.</p><p>If a parent is known to have the pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%. Although penetrance of <i>ACTG2</i> visceral myopathy appears to be complete, the severity of clinical findings can vary between heterozygous family members.</p><p>Each child of an individual with <i>ACTG2</i> visceral myopathy has a 50% chance of inheriting the pathogenic variant.</p><p>Once the <i>ACTG2</i> pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.</p></div></div><div id="actg2-dis.Diagnosis"><h2 id="_actg2-dis_Diagnosis_">Diagnosis</h2><p>No consensus clinical diagnostic criteria for <i>ACTG2</i> visceral myopathy have been published.</p><div id="actg2-dis.Suggestive_Findings"><h3>Suggestive Findings</h3><p><i>ACTG2</i> visceral myopathy <b>should be suspected</b> in individuals with the following bladder and/or intestinal findings (which can range in a continuum from severe in neonates to more mild in older children and adults) and family history.</p><p>
|
|
<b>Bladder findings</b>
|
|
</p><ul><li class="half_rhythm"><div>Prenatal ultrasound revealing megacystis, defined according to trimester [<a class="bibr" href="#actg2-dis.REF.fievet.2014.185" rid="actg2-dis.REF.fievet.2014.185">Fievet et al 2014</a>]:</div><ul><li class="half_rhythm"><div>First trimester. Bladder diameter >6 mm</div></li><li class="half_rhythm"><div>Second and third trimesters. Enlarged bladder with failure to empty within 45 minutes</div></li></ul></li><li class="half_rhythm"><div>In neonates, prune-belly sequence (megacystis with lack of abdominal wall musculature, cryptorchidism in males, and distention of the upper urinary tract) in association with impaired gastrointestinal motility</div></li><li class="half_rhythm"><div>Postnatal ultrasound examination or cystogram revealing an enlarged bladder</div></li><li class="half_rhythm"><div>In individuals of any age, unexplained chronic functional bladder impairment of voiding without mechanical blockage</div></li></ul><p>
|
|
<b>Intestinal findings</b>
|
|
</p><ul><li class="half_rhythm"><div>Neonatal bilious emesis, abdominal distention, and feeding intolerance</div></li><li class="half_rhythm"><div>Intestinal malrotation and long-term intestinal motility problems often resulting in chronic abdominal pain and constipation</div></li><li class="half_rhythm"><div>Neonatal microcolon</div></li><li class="half_rhythm"><div>In individuals of any age, chronic intestinal pseudoobstruction (CIPO) (i.e., unexplained chronic functional intestinal obstruction involving small bowel and/or colon without evidence of mechanical blockage)</div></li></ul><p>Additional suggestive intestinal findings [<a class="bibr" href="#actg2-dis.REF.gabbard.2013.307" rid="actg2-dis.REF.gabbard.2013.307">Gabbard & Lacy 2013</a>]:</p><ul><li class="half_rhythm"><div>Symptoms lasting more than six months, or more than two months from birth</div></li><li class="half_rhythm"><div>Evidence of delayed GI transit and/or decreased GI motility</div></li><li class="half_rhythm"><div>Imaging studies that do not show mechanical obstruction</div></li><li class="half_rhythm"><div>Radiographic documentation of dilated bowel, air fluid levels without fixed obstruction [<a class="bibr" href="#actg2-dis.REF.rudolph.1997.102" rid="actg2-dis.REF.rudolph.1997.102">Rudolph et al 1997</a>]</div></li></ul><p><b>Family history</b> is consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations). Absence of a known family history does not preclude the diagnosis.</p></div><div id="actg2-dis.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of <i>ACTG2</i> visceral myopathy <b>is established</b> in a proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant in <i>ACTG2</i> identified by molecular genetic testing (see <a href="/books/NBK299311/table/actg2-dis.T.molecular_genetic_testing_us/?report=objectonly" target="object" rid-ob="figobactg2disTmoleculargenetictestingus">Table 1</a>).</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making [<a class="bibr" href="#actg2-dis.REF.richards.2015.405" rid="actg2-dis.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. (2) Identification of a heterozygous <i>ACTG2</i> variant of uncertain significance does not establish or rule out the diagnosis.</p><p>Molecular genetic testing approaches can include a combination of <b>gene-targeted testing</b> (single-gene testing, multigene panel) and <b>comprehensive</b>
|
|
<b>genomic testing</b> (exome sequencing, exome array, genome sequencing) depending on the phenotype.</p><p>Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Individuals with the distinctive findings described in <a href="#actg2-dis.Suggestive_Findings">Suggestive Findings</a> are likely to be diagnosed using gene-targeted testing (see <a href="#actg2-dis.Option_1">Option 1</a>), whereas those in whom the diagnosis of <i>ACTG2</i> visceral myopathy has not been considered are more likely to be diagnosed using genomic testing (see <a href="#actg2-dis.Option_2">Option 2</a>).</p><div id="actg2-dis.Option_1"><h4>Option 1</h4><p><b>Single-gene testing.</b> Sequence analysis of <i>ACTG2</i> is performed first to detect small intragenic deletions/insertions and missense, nonsense, and splice site variants. If no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications.</p><p><b>A multigene panel</b> that includes <i>ACTG2</i> and other genes of interest (see <a href="#actg2-dis.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.</p><p>For an introduction to multigene panels click <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/?report=reader#app5.Multigene_Panels_FAQs">here</a>.</p></div><div id="actg2-dis.Option_2"><h4>Option 2</h4><p><b>Comprehensive</b>
|
|
<b>genomic testing</b> does not require the clinician to determine which gene is likely involved. <b>Exome sequencing</b> is most commonly used; <b>genome sequencing</b> is also possible.</p><p>If exome sequencing is not diagnostic – and particularly when evidence supports autosomal dominant inheritance – <b>exome array</b> (when clinically available) may be considered to detect (multi)exon deletions or duplications that cannot be detected by sequence analysis. Note: To date such variants have not been identified as a cause of this disorder.</p><p>For an introduction to comprehensive genomic testing click <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/?report=reader#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figactg2disTmoleculargenetictestingus"><a href="/books/NBK299311/table/actg2-dis.T.molecular_genetic_testing_us/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobactg2disTmoleculargenetictestingus"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="actg2-dis.T.molecular_genetic_testing_us"><a href="/books/NBK299311/table/actg2-dis.T.molecular_genetic_testing_us/?report=objectonly" target="object" rid-ob="figobactg2disTmoleculargenetictestingus">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in <i>ACTG2</i> Visceral Myopathy </p></div></div></div></div></div><div id="actg2-dis.Clinical_Characteristics"><h2 id="_actg2-dis_Clinical_Characteristics_">Clinical Characteristics</h2><div id="actg2-dis.Clinical_Description"><h3>Clinical Description</h3><p>Individuals with <i>ACTG2</i> visceral myopathy can experience functional defects of smooth muscle involving both bladder and bowel. Bladder involvement can range from neonatal megacystis and megaureter (with its most extreme form of prune belly syndrome) at the more severe end to recurrent urinary tract infections and bladder dysfunction at the milder end. Intestinal involvement can range from malrotation, neonatal manifestations of microcolon, and megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) to chronic intestinal pseudoobstruction (CIPO) in neonates, infants, children, and adults.</p><p>The clinical severity can range within a family; mildly affected family members may not be aware of the diagnosis. For example:</p><ul><li class="half_rhythm"><div>One individual (in a multi-generation Finnish family) with an <i>ACTG2</i> pathogenic variant reported episodic mild abdominal pain but no surgery and no signs of visceral myopathy at age 19 years [<a class="bibr" href="#actg2-dis.REF.lehtonen.2012.1482" rid="actg2-dis.REF.lehtonen.2012.1482">Lehtonen et al 2012</a>].</div></li><li class="half_rhythm"><div>One individual diagnosed with "spastic colon" and irritable bowel syndrome had not required surgery or intervention in middle age [<a class="bibr" href="#actg2-dis.REF.wangler.2014.e1004258" rid="actg2-dis.REF.wangler.2014.e1004258">Wangler et al 2014</a>].</div></li></ul><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figactg2disTactg2visceralmyopathyfreq"><a href="/books/NBK299311/table/actg2-dis.T.actg2_visceral_myopathy_freq/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobactg2disTactg2visceralmyopathyfreq"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="actg2-dis.T.actg2_visceral_myopathy_freq"><a href="/books/NBK299311/table/actg2-dis.T.actg2_visceral_myopathy_freq/?report=objectonly" target="object" rid-ob="figobactg2disTactg2visceralmyopathyfreq">Table 2. </a></h4><p class="float-caption no_bottom_margin"><i>ACTG2</i> Visceral Myopathy: Frequency of Select Features </p></div></div><p>The following discussion of findings from <a href="/books/NBK299311/table/actg2-dis.T.actg2_visceral_myopathy_freq/?report=objectonly" target="object" rid-ob="figobactg2disTactg2visceralmyopathyfreq">Table 2</a> is based on <a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al [2020]</a> except where indicated by additional citations.</p><p><b>Urologic.</b> The majority (89%) of individuals with either a <i>de novo</i> or inherited <i>ACTG2</i> pathogenic variant had prenatal or postnatal megacystis [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>, <a class="bibr" href="#actg2-dis.REF.billon.2020.261" rid="actg2-dis.REF.billon.2020.261">Billon et al 2020</a>, <a class="bibr" href="#actg2-dis.REF.matera.2021.430" rid="actg2-dis.REF.matera.2021.430">Matera et al 2021</a>]. Fetal megacystis is defined as longitudinal bladder diameter ≥7mm in the first trimester [<a class="bibr" href="#actg2-dis.REF.fong.2004.157" rid="actg2-dis.REF.fong.2004.157">Fong et al 2004</a>].</p><p>Approximately 11% of individuals have had a vesicoamniotic shunt placed prenatally [<a class="bibr" href="#actg2-dis.REF.wangler.2014.e1004258" rid="actg2-dis.REF.wangler.2014.e1004258">Wangler et al 2014</a>].</p><p>Chronic bladder functional impairment seen in the majority of individuals with an <i>ACTG2</i>
|
|
<i>de novo</i> pathogenic variant can require lifelong bladder catheterization (24/26 [92%]) [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>].</p><p>Prune belly syndrome, characterized by lack of abdominal wall musculature, cryptorchidism in males, and distention of the urinary tract [<a class="bibr" href="#actg2-dis.REF.pomajzl.2020" rid="actg2-dis.REF.pomajzl.2020">Pomajzl & Sankararaman 2020</a>], was reported in one male with MMIHS and a <i>de novo ACTG2</i> pathogenic variant [<a class="bibr" href="#actg2-dis.REF.wangler.2014.e1004258" rid="actg2-dis.REF.wangler.2014.e1004258">Wangler et al 2014</a>].</p><p><b>Gastrointestinal.</b> The majority of neonates with a <i>de novo</i>
|
|
<i>ACTG2</i> pathogenic variant are unable to tolerate feedings. Likewise, intestinal malrotation is common; while many undergo a Ladd surgical procedure (58%), many experience persistent manifestations of bowel obstruction (e.g., vomiting, food intolerance, abdominal pain or tenderness, and distention) after surgical recovery [<a class="bibr" href="#actg2-dis.REF.wangler.2014.e1004258" rid="actg2-dis.REF.wangler.2014.e1004258">Wangler et al 2014</a>].</p><p>Affected individuals can experience episodic improvement of bowel motility, loss of bowel motility over time, or waxing and waning of reduced bowel motility. Affected individuals may undergo frequent abdominal surgeries (perhaps related to malrotation or presumed adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel.</p><p>Microcolon refers to a small-caliber (but not short) colon in the neonate. The etiology is considered to be lack of use of the colon during fetal development due to proximal functional obstruction. While the caliber of the colon is often noted to be small on contrast enema, no definite radiologic criteria are established.</p><p>Affected individuals in many families with a dominantly inherited <i>ACTG2</i> pathogenic variant and waxing and waning chronic intestinal pseudoobstruction (CIPO) report lifelong gastrointestinal discomfort and episodic symptoms resulting in surgery and hospitalization. These individuals can survive to an advanced age.</p><p><b>Uterine.</b> Failure to progress during labor and impaired uterine contractions have been reported [<a class="bibr" href="#actg2-dis.REF.klar.2015.1679" rid="actg2-dis.REF.klar.2015.1679">Klar et al 2015</a>]. Poor uterine contractility has been severe enough to lead to cesarean delivery.</p><p><b>Biliary tract.</b> Cholelithiasis and cholecystitis have been reported [<a class="bibr" href="#actg2-dis.REF.klar.2015.1679" rid="actg2-dis.REF.klar.2015.1679">Klar et al 2015</a>]. Cholelithiasis has been noted as early as age 9 years.</p><p><b>Intellect</b> in individuals with <i>ACTG2</i> visceral myopathy is usually normal.</p><p><b>Long-term survival.</b> Poor (severe) outcome, defined as complications leading to death, dependence on total parenteral nutrition (TPN) and/or multivisceral transplantation, was observed in individuals whose mean last age of contact was seven years (range: 2 months-16 years). Their long-term survival usually required total parenteral nutrition and urinary catheterization or diversion (see <a href="#actg2-dis.Management">Management</a>). Most long-term survivors have ileostomies [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>].</p><p>Individuals with a severe outcome are more likely to have a <i>de novo</i>
|
|
<i>ACTG2</i> pathogenic variant compared to families with an inherited <i>ACTG2</i> pathogenic variant in which some family members have MMIHS and others (with the same variant) have milder phenotypes [<a class="bibr" href="#actg2-dis.REF.wangler.2014.e1004258" rid="actg2-dis.REF.wangler.2014.e1004258">Wangler et al 2014</a>, <a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>].</p></div><div id="actg2-dis.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>Genotype-phenotype correlations have been identified for the following pathogenic variants (see also <a href="/books/NBK299311/table/actg2-dis.T.notable_actg2_pathogenic_var/?report=objectonly" target="object" rid-ob="figobactg2disTnotableactg2pathogenicvar">Table 4</a>):</p><p><a href="/books/NBK299311/table/actg2-dis.T.notable_actg2_pathogenic_var/?report=objectonly" target="object" rid-ob="figobactg2disTnotableactg2pathogenicvar"><b>p.Arg40</b></a><b>.</b> Six of eight probands with missense variants at p.Arg40 had a favorable outcome.</p><p>
|
|
<a href="/books/NBK299311/table/actg2-dis.T.notable_actg2_pathogenic_var/?report=objectonly" target="object" rid-ob="figobactg2disTnotableactg2pathogenicvar">
|
|
<b>p.Arg178</b>
|
|
</a>
|
|
</p><ul><li class="half_rhythm"><div>All 17/17 probands with missense variants at p.Arg178 had a poor outcome [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>]. All were TPN dependent and at least one had undergone a multiorgan transplantation.</div></li><li class="half_rhythm"><div>Nineteen of 20 (95%) individuals with missense variants at p.Arg178 had microcolon [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>].</div></li></ul><p><a href="/books/NBK299311/table/actg2-dis.T.notable_actg2_pathogenic_var/?report=objectonly" target="object" rid-ob="figobactg2disTnotableactg2pathogenicvar"><b>p.Arg257</b></a><b>.</b> Sixteen of 26 (61.5%) probands with missense variants at p.Arg257 had a poor outcome. Five of 26 (19%) had microcolon; of these, three had a poor outcome and two a favorable outcome [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>].</p></div><div id="actg2-dis.Penetrance"><h3>Penetrance</h3><p>To date penetrance of <i>ACTG2</i> visceral myopathy appears to be complete, as no family members heterozygous for a known <i>ACTG2</i> pathogenic variant have been completely symptom free.</p></div><div id="actg2-dis.Nomenclature"><h3>Nomenclature</h3><p>Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) may also be referred to as familial visceral myopathy or Berdon syndrome.</p><p>The broad term "hollow visceral myopathy" includes phenotypically related disorders caused by pathogenic variants in other genes (e.g., <i>ACTA2</i>), and therefore should not be used as a synonym for <i>ACTG2</i> visceral myopathy [<a class="bibr" href="#actg2-dis.REF.milewicz.2010.2437" rid="actg2-dis.REF.milewicz.2010.2437">Milewicz et al 2010</a>].</p><p>Prune belly sequence may also be referred to as Eagle-Barrett syndrome.</p></div><div id="actg2-dis.Prevalence"><h3>Prevalence</h3><p>To date 90 individuals with molecularly confirmed <i>ACTG2</i> visceral myopathy have been reported [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>, <a class="bibr" href="#actg2-dis.REF.matera.2021.430" rid="actg2-dis.REF.matera.2021.430">Matera et al 2021</a>].</p></div></div><div id="actg2-dis.Genetically_Related_Allelic_Di"><h2 id="_actg2-dis_Genetically_Related_Allelic_Di_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are known to be associated with mutation of <i>ACTG2</i>.</p></div><div id="actg2-dis.Differential_Diagnosis"><h2 id="_actg2-dis_Differential_Diagnosis_">Differential Diagnosis</h2><p>Approximately 62% (33/53) of individuals with a clinical diagnosis of visceral myopathy have a heterozygous pathogenic <i>ACTG2</i> variant [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al [2020]</a>. Other genes known to be associated with visceral myopathy are summarized in <a href="/books/NBK299311/table/actg2-dis.T.inherited_disorders_with_gas/?report=objectonly" target="object" rid-ob="figobactg2disTinheriteddisorderswithgas">Table 3</a>.</p><p>Note<i>:</i> Because mydriasis has been identified in some individuals with <a href="/books/n/gene/mmihs-ov/?report=reader">MMIHS</a> (megacystis-microcolon-intestinal hypoperistalsis syndrome) [<a class="bibr" href="#actg2-dis.REF.mcclelland.2013.271" rid="actg2-dis.REF.mcclelland.2013.271">McClelland et al 2013</a>] but not in those with <i>ACTG2</i> visceral myopathy, the presence of mydriasis may suggest a different disorder.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figactg2disTinheriteddisorderswithgas"><a href="/books/NBK299311/table/actg2-dis.T.inherited_disorders_with_gas/?report=objectonly" target="object" title="Table 3. " class="img_link icnblk_img" rid-ob="figobactg2disTinheriteddisorderswithgas"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="actg2-dis.T.inherited_disorders_with_gas"><a href="/books/NBK299311/table/actg2-dis.T.inherited_disorders_with_gas/?report=objectonly" target="object" rid-ob="figobactg2disTinheriteddisorderswithgas">Table 3. </a></h4><p class="float-caption no_bottom_margin">Inherited Disorders with Gastrointestinal/Genitourinary Visceral Myopathy in the Differential Diagnosis for <i>ACTG2</i> Visceral Myopathy </p></div></div></div><div id="actg2-dis.Management"><h2 id="_actg2-dis_Management_">Management</h2><p>No clinical practice guidelines for <i>ACTG2</i> visceral myopathy have been published.</p><p>The following recommendations are adapted from the <a href="/books/n/gene/mmihs-ov/?report=reader">Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview</a>.</p><div id="actg2-dis.Evaluations_Following_Initial"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with <i>ACTG2</i> visceral myopathy, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><p>
|
|
<b>Bladder and urinary tract</b>
|
|
</p><ul><li class="half_rhythm"><div>Urodynamic studies to evaluate the degree of bladder dysfunction (e.g., enlarged bladder capacity for age, detrusor acontractility with failure to empty) [<a class="bibr" href="#actg2-dis.REF.wymer.2016.1565" rid="actg2-dis.REF.wymer.2016.1565">Wymer et al 2016</a>]</div></li><li class="half_rhythm"><div>Voiding cystourethrogram to evaluate for outlet obstruction, vesicoureteral reflux (VUR), and bladder capacity [<a class="bibr" href="#actg2-dis.REF.wymer.2016.1565" rid="actg2-dis.REF.wymer.2016.1565">Wymer et al 2016</a>]</div></li><li class="half_rhythm"><div>Renal and bladder ultrasound to evaluate for hydronephrosis and renal parenchyma</div></li><li class="half_rhythm"><div>Laboratory evaluation of renal function (e.g., BUN, creatinine, GFR) and electrolytes (potassium, phosphorus, calcium)</div></li></ul><p>
|
|
<b>Gastroenterology</b>
|
|
</p><ul><li class="half_rhythm"><div>Bowel imaging:</div><ul><li class="half_rhythm"><div>Abdominal x-ray</div></li><li class="half_rhythm"><div>Contrast enema</div></li><li class="half_rhythm"><div>Fluoroscopic upper gastrointestinal series</div></li><li class="half_rhythm"><div>Computed tomography examination of the abdomen as indicated to evaluate for a mechanical obstruction.</div></li></ul></li><li class="half_rhythm"><div>Laboratory assessment of liver enzymes (AST, ALT, alkaline phosphatase), cholestasis (total and direct bilirubin), and liver function (PT, PTT, INR, albumin)</div></li><li class="half_rhythm"><div>Laboratory evaluation of macronutrient (carbohydrates, fat, protein) and micronutrient (vitamins, minerals) deficiencies in the setting of intestinal dysfunction and progressive malabsorption</div></li><li class="half_rhythm"><div>Nutrition evaluation of growth parameters</div></li></ul><p><b>Consultation</b> with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse is recommended to inform affected individuals and their families about the nature, mode of inheritance, and implications of <i>ACTG2</i> visceral myopathy in order to facilitate medical and personal decision making.</p></div><div id="actg2-dis.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>Treatment for <i>ACTG2</i> visceral myopathy is supportive. Specialized centers offer multidisciplinary medical and surgical models of care including comprehensive total parenteral nutrition (TPN) management and multivisceral transplantation.</p><div id="actg2-dis.Fetal_Management"><h4>Fetal Management</h4><p>When a fetus at risk for <i>ACTG2</i> visceral myopathy has evidence of bladder distention on prenatal ultrasound examination, consultation with a maternal fetal medicine specialist is recommended. Of note, in some fetuses with prenatal detection of megacystis, vesicoamniotic shunts have been performed.</p></div><div id="actg2-dis.Management_of_Children_and_Adu"><h4>Management of Children and Adults</h4><p>Children with <i>ACTG2</i> visceral myopathy require multidisciplinary management with specialists in pediatric urology, gastroenterology, and nutrition who are familiar with bladder and intestinal motility disorders, as well as experts in medical genetics.</p><p>Adults with <i>ACTG2</i> visceral myopathy require similar multidisciplinary care.</p><p><b>Myopathic bladder dysfunction and associated urologic comorbidities.</b> Goals of bladder management include bladder decompression using clean intermittent catheterizations or vesicostomy, and subsequent monitoring to prevent renal scarring and failure.</p><p><b>Bowel dysfunction, microcolon, intestinal dysmotility, and associated gastrointestinal comorbidities</b> (malrotation, short bowel syndrome, recurrent non-mechanical bowel obstruction). Goals of bowel management include providing means of nutrition in the setting of intestinal dysmotility via enteral or parenteral means while monitoring for nutritional failure and TPN-associated complications (line infections, liver disease).</p><ul><li class="half_rhythm"><div>Surgical interventions such as enterostomies (e.g., gastrostomy, jejunostomy) for nutrition administration and proximal bowel decompression [<a class="bibr" href="#actg2-dis.REF.puri.2012.310" rid="actg2-dis.REF.puri.2012.310">Puri & Gosemann 2012</a>, <a class="bibr" href="#actg2-dis.REF.soh.2015.2048" rid="actg2-dis.REF.soh.2015.2048">Soh et al 2015</a>, <a class="bibr" href="#actg2-dis.REF.de_sousa.2016.152" rid="actg2-dis.REF.de_sousa.2016.152">De Sousa et al 2016</a>, <a class="bibr" href="#actg2-dis.REF.wymer.2016.1565" rid="actg2-dis.REF.wymer.2016.1565">Wymer et al 2016</a>]</div></li><li class="half_rhythm"><div>Bowel diversion (e.g., ileostomy, colostomy) for distal bowel decompression [<a class="bibr" href="#actg2-dis.REF.puri.2012.310" rid="actg2-dis.REF.puri.2012.310">Puri & Gosemann 2012</a>, <a class="bibr" href="#actg2-dis.REF.soh.2015.2048" rid="actg2-dis.REF.soh.2015.2048">Soh et al 2015</a>, <a class="bibr" href="#actg2-dis.REF.de_sousa.2016.152" rid="actg2-dis.REF.de_sousa.2016.152">De Sousa et al 2016</a>, <a class="bibr" href="#actg2-dis.REF.wymer.2016.1565" rid="actg2-dis.REF.wymer.2016.1565">Wymer et al 2016</a>]</div></li><li class="half_rhythm"><div>TPN when appropriate for malnutrition due to intestinal failure from intestinal dysmotility</div></li><li class="half_rhythm"><div>Multivisceral or isolated intestinal transplantation should be considered for those who continue to have nutritional failure and are unable to tolerate TPN due to complications (e.g., liver dysfunction and cholestasis, lack of adequate central venous access, recurrent central line-associated bloodstream infections) [<a class="bibr" href="#actg2-dis.REF.huang.2013.e4" rid="actg2-dis.REF.huang.2013.e4">Huang et al 2013</a>, <a class="bibr" href="#actg2-dis.REF.de_sousa.2016.152" rid="actg2-dis.REF.de_sousa.2016.152">De Sousa et al 2016</a>, <a class="bibr" href="#actg2-dis.REF.wymer.2016.1565" rid="actg2-dis.REF.wymer.2016.1565">Wymer et al 2016</a>].</div></li><li class="half_rhythm"><div>For those with chronic intestinal pseudoobstruction (CIPO), high-fat foods (>30% of total calories) and consumption of lactose and fructose may worsen abdominal bloating and discomfort [<a class="bibr" href="#actg2-dis.REF.gabbard.2013.307" rid="actg2-dis.REF.gabbard.2013.307">Gabbard & Lacy 2013</a>].</div></li><li class="half_rhythm"><div>Surgical procedures associated with general anesthesia can produce a post-surgical ileus which can persist for an extended period.</div></li></ul></div></div><div id="actg2-dis.Surveillance"><h3>Surveillance</h3><p>Surveillance should be individualized using a multidisciplinary approach.</p><p><b>Bladder and urinary tract comorbidities.</b> Monitor voiding, urinary tract anatomy, and renal function.</p><p><b>Intestinal manifestations.</b> Monitor nutritional status and possible TPN-associated complications (line infections, liver disease) and consider need for multivisceral or isolated intestinal transplantation.</p></div><div id="actg2-dis.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Treatment/medications to be avoided or limited include those that diminish bowel and bladder motility.</p><p>Opioids are known to decrease intestinal dysmotility and should be used with caution [<a class="bibr" href="#actg2-dis.REF.gamboa.2019.70" rid="actg2-dis.REF.gamboa.2019.70">Gamboa & Sood 2019</a>].</p></div><div id="actg2-dis.Evaluation_of_Relatives_at_Ris"><h3>Evaluation of Relatives at Risk</h3><p>It is appropriate to clarify the genetic status of relatives at risk as early diagnosis may help prevent unnecessary surgery for manifestations of intestinal obstruction and may allow early evaluation of bladder and renal function, and of the urinary tract for evidence of dilatation.</p><p>See <a href="#actg2-dis.Related_Genetic_Counseling_Iss">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="actg2-dis.Pregnancy_Management"><h3>Pregnancy Management</h3><p>Among the limited number of mothers with <i>ACTG2</i> visceral myopathy reported, some instances of poor labor progression and weak uterine contractions have been noted [<a class="bibr" href="#actg2-dis.REF.klar.2015.1679" rid="actg2-dis.REF.klar.2015.1679">Klar et al 2015</a>].</p></div><div id="actg2-dis.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="actg2-dis.Genetic_Counseling"><h2 id="_actg2-dis_Genetic_Counseling_">Genetic Counseling</h2><p>
|
|
<i>Genetic counseling is the process of providing individuals and families with
|
|
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
|
make informed medical and personal decisions. The following section deals with genetic
|
|
risk assessment and the use of family history and genetic testing to clarify genetic
|
|
status for family members; it is not meant to address all personal, cultural, or
|
|
ethical issues that may arise or to substitute for consultation with a genetics
|
|
professional</i>. —ED.</p><div id="actg2-dis.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p><i>ACTG2</i> visceral myopathy is typically inherited in an autosomal dominant manner.</p><p>Apparent autosomal recessive inheritance of <i>ACTG2</i> visceral myopathy has been reported in one family in which two sibs with severe visceral myopathy were found to have biallelic <i>ACTG2</i> variants while their heterozygous parents were asymptomatic [<a class="bibr" href="#actg2-dis.REF.matera.2021.430" rid="actg2-dis.REF.matera.2021.430">Matera et al 2021</a>]. Further study is needed to confirm that the <i>ACTG2</i> variants segregating in this family are causative of the phenotype in the affected sibs. (Autosomal recessive inheritance is not discussed further in this section.)</p></div><div id="actg2-dis.Risk_to_Family_Members_Autosom"><h3>Risk to Family Members (Autosomal Dominant Inheritance)</h3><p>
|
|
<b>Parents of a proband</b>
|
|
</p><ul><li class="half_rhythm"><div>The majority of individuals with <i>ACTG2</i> visceral myopathy have the disorder as the result of a <i>de novo</i> pathogenic variant. In a cohort of 26 individuals with <i>ACTG2</i> visceral myopathy whose parents underwent molecular genetic testing, 19 probands (~73%) had the disorder as the result of a <i>de novo</i>
|
|
<i>ACTG2</i> pathogenic variant [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>].</div></li><li class="half_rhythm"><div>Some individuals diagnosed with <i>ACTG2</i> visceral myopathy have the disorder as the result of a pathogenic variant inherited from a heterozygous parent. In a cohort of 26 individuals with <i>ACTG2</i> visceral myopathy whose parents underwent molecular genetic testing, seven probands (~27%) had the disorder as the result of a pathogenic variant inherited from a heterozygous, affected parent [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>]. To date, all parents known to be heterozygous for an <i>ACTG2</i> pathogenic variant have had manifestations of visceral myopathy; however, it is possible that a heterozygous parent may have mild symptoms and appear to be unaffected.</div></li><li class="half_rhythm"><div>Molecular genetic testing is recommended for the parents of the proband to confirm their genetic status and to allow reliable recurrence risk counseling.</div></li><li class="half_rhythm"><div>If the pathogenic variant identified in the proband is not identified in either parent, the following possibilities should be considered:</div><ul><li class="half_rhythm"><div class="half_rhythm">The proband has a <i>de novo</i> pathogenic variant. Note: A pathogenic variant is reported as "<i>de novo</i>" if: (1) the pathogenic variant found in the proband is not detected in parental DNA; and (2) parental identity testing has confirmed biological maternity and paternity. If parental identity testing is not performed, the variant is reported as "assumed <i>de novo</i>" [<a class="bibr" href="#actg2-dis.REF.richards.2015.405" rid="actg2-dis.REF.richards.2015.405">Richards et al 2015</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">The proband inherited a pathogenic variant from a parent with germline (or somatic and germline) mosaicism [<a class="bibr" href="#actg2-dis.REF.tuzovic.2015.296" rid="actg2-dis.REF.tuzovic.2015.296">Tuzovic et al 2015</a>, <a class="bibr" href="#actg2-dis.REF.milunsky.2017.1254" rid="actg2-dis.REF.milunsky.2017.1254">Milunsky et al 2017</a>].* Note: Testing of parental leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ cells only.</div><div class="half_rhythm">* A parent with somatic and germline mosaicism for an <i>ACTG2</i> pathogenic variant may be mildly/minimally affected.</div></li></ul></li><li class="half_rhythm"><div>An individual diagnosed with <i>ACTG2</i> visceral myopathy may appear to be the only affected family member. However, because it is possible that heterozygous family members may appear to be clinically asymptomatic because of a milder phenotypic presentation or late onset of the disease, an apparently negative family history cannot be confirmed unless molecular genetic testing has demonstrated that neither parent is heterozygous for the pathogenic variant identified in the proband.</div></li></ul><p><b>Sibs of a proband.</b> The risk to the sibs of the proband depends on the genetic status of the proband’s parents:</p><ul><li class="half_rhythm"><div>If a parent of the proband is affected and/or is known to have the pathogenic variant identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%.</div></li><li class="half_rhythm"><div>Although penetrance of <i>ACTG2</i> visceral myopathy appears to be complete, the severity of clinical findings can vary among heterozygous family members [<a class="bibr" href="#actg2-dis.REF.lehtonen.2012.1482" rid="actg2-dis.REF.lehtonen.2012.1482">Lehtonen et al 2012</a>, <a class="bibr" href="#actg2-dis.REF.klar.2015.1679" rid="actg2-dis.REF.klar.2015.1679">Klar et al 2015</a>, <a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>].</div></li><li class="half_rhythm"><div>If the <i>ACTG2</i> pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the recurrence risk to sibs is slightly greater than that of the general population because of the possibility of parental mosaicism (observed in 2 families reported to date [<a class="bibr" href="#actg2-dis.REF.tuzovic.2015.296" rid="actg2-dis.REF.tuzovic.2015.296">Tuzovic et al 2015</a>, <a class="bibr" href="#actg2-dis.REF.milunsky.2017.1254" rid="actg2-dis.REF.milunsky.2017.1254">Milunsky et al 2017</a>]).</div></li><li class="half_rhythm"><div>If the parents have not been tested for the <i>ACTG2</i> pathogenic variant but are clinically unaffected, the risk to the sibs of a proband appears to be low. However, sibs of a proband with clinically unaffected parents are still presumed to be at increased risk for <i>ACTG2</i> visceral myopathy because of the possibility of parental mosaicism or reduced penetrance in a heterozygous parent.</div></li></ul><p><b>Offspring of a proband.</b> Each child of an individual with autosomal dominant <i>ACTG2</i> visceral myopathy has a 50% chance of inheriting the pathogenic variant.</p><p><b>Other family members.</b> The risk to other family members depends on the genetic status of the proband's parents: if a parent has the <i>ACTG2</i> pathogenic variant, the parent's family members may be at risk.</p></div><div id="actg2-dis.Related_Genetic_Counseling_Iss"><h3>Related Genetic Counseling Issues</h3><p>See Management, <a href="#actg2-dis.Evaluation_of_Relatives_at_Ris">Evaluation of Relatives at Risk</a> for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.</p><p>
|
|
<b>Family planning</b>
|
|
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.</div></li></ul></div><div id="actg2-dis.Prenatal_Testing_and_Preimplan"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>ACTG2</i> pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing for <i>ACTG2</i> visceral myopathy are possible. However, clinical severity cannot be accurately predicted by family history or molecular genetic testing.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="actg2-dis.Resources"><h2 id="_actg2-dis_Resources_">Resources</h2><p>
|
|
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
|
support organizations and/or registries for the benefit of individuals with this disorder
|
|
and their families. GeneReviews is not responsible for the information provided by other
|
|
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p>
|
|
<ul><li class="half_rhythm"><div>
|
|
<b>Children's Organ Transplant Association</b>
|
|
</div><div><b>Phone:</b> 800-366-2682</div><div><b>Fax:</b> 812-336-8885</div><div><b>Email:</b> cota@cota.org</div><div>
|
|
<a href="https://cota.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">cota.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>International Foundation for Functional Gastrointestinal Disorders (IFFGD)</b>
|
|
</div><div><b>Phone:</b> 414-964-1799</div><div>
|
|
<a href="http://www.iffgd.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">iffgd.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>International Foundation for Functional Gastrointestinal Disorders (IFFGD) - ABOUT KIDS GI</b>
|
|
</div><div>
|
|
<a href="http://www.aboutkidsgi.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">aboutkidsgi.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>MMIHS Foundation</b>
|
|
</div><div>
|
|
<a href="https://www.mmihs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">mmihs.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>National Digestive Diseases Information Clearinghouse (NDDIC)</b>
|
|
</div><div>
|
|
<a href="https://www.niddk.nih.gov/health-information/digestive-diseases/intestinal-pseudo-obstruction" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Intestinal Pseudo-obstruction</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)</b>
|
|
</div><div><b>Phone:</b> 301-496-3583 </div><div>
|
|
<a href="https://www.niddk.nih.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">niddk.nih.gov</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>Prune Belly Syndrome Network</b>
|
|
</div><div><b>Phone:</b> 855-ASK-PBSN</div><div>
|
|
<a href="http://prunebelly.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">prunebelly.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>Pull-thru Network</b>
|
|
</div><div><b>Phone:</b> -309-262-0786</div><div><b>Email:</b> info@pullthrunetwork.org</div><div>
|
|
<a href="http://www.pullthrunetwork.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">pullthrunetwork.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>The Oley Foundation</b>
|
|
</div><div><b>Phone:</b> 518-262-5079</div><div><b>Email:</b> info@oley.org</div><div>
|
|
<a href="https://oley.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">oley.org</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<b>United Ostomy Associations of America, Inc.</b>
|
|
</div><div><b>Phone:</b> 800-826-0826</div><div>
|
|
<a href="https://www.ostomy.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ostomy.org</a>
|
|
</div></li></ul>
|
|
</div><div id="actg2-dis.Molecular_Genetics"><h2 id="_actg2-dis_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figactg2dismolgenTA"><a href="/books/NBK299311/table/actg2-dis.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobactg2dismolgenTA"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="actg2-dis.molgen.TA"><a href="/books/NBK299311/table/actg2-dis.molgen.TA/?report=objectonly" target="object" rid-ob="figobactg2dismolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">ACTG2 Visceral Myopathy: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figactg2dismolgenTB"><a href="/books/NBK299311/table/actg2-dis.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobactg2dismolgenTB"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="actg2-dis.molgen.TB"><a href="/books/NBK299311/table/actg2-dis.molgen.TB/?report=objectonly" target="object" rid-ob="figobactg2dismolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for ACTG2 Visceral Myopathy (View All in OMIM) </p></div></div><div id="actg2-dis.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p><i>ACTG2</i> encodes γ-2 actin, an enteric actin protein. The abnormal proteins are hypothesized to affect actin filament polymerization and smooth muscle contraction [<a class="bibr" href="#actg2-dis.REF.thorson.2014.737" rid="actg2-dis.REF.thorson.2014.737">Thorson et al 2014</a>]. Aggregation of the γ-2 actin molecules may also occur [<a class="bibr" href="#actg2-dis.REF.lehtonen.2012.1482" rid="actg2-dis.REF.lehtonen.2012.1482">Lehtonen et al 2012</a>]. Structural data on actin molecules support the role of some of the altered amino acids in actin polymerization [<a class="bibr" href="#actg2-dis.REF.graceffa.2003.34172" rid="actg2-dis.REF.graceffa.2003.34172">Graceffa & Dominguez 2003</a>].</p><p><b>Mechanism of disease causation.</b>
|
|
<a class="bibr" href="#actg2-dis.REF.halim.2016.571" rid="actg2-dis.REF.halim.2016.571">Halim et al [2016]</a> used in vitro assays to support a gain-of-function mechanism for <i>ACTG2</i> missense variants. In addition, intestinal smooth muscle cells with <i>ACTG2</i> variant p.Arg257Cys showed poor incorporation of the mutated y-2 actin into actin filament bundles [<a class="bibr" href="#actg2-dis.REF.hashmi.2020.e140604" rid="actg2-dis.REF.hashmi.2020.e140604">Hashmi et al 2020</a>].</p><p><b><i>ACTG2</i>-specific laboratory technical considerations.</b> Thirteen of the 18 ACTG2 arginine residues are encoded by an <i>ACTG2</i> "CGX" (CGG, CGC, CGA, and CGU) codon within a CpG dinucleotide. Variants at five of these arginine residues (p.Arg40, p.Arg63, p.Arg178, p.Arg211, and p.Arg257) account for 75% (67/85) of reported <i>ACTG2</i> pathogenic variants [<a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al 2020</a>]. See <a href="/books/NBK299311/table/actg2-dis.T.notable_actg2_pathogenic_var/?report=objectonly" target="object" rid-ob="figobactg2disTnotableactg2pathogenicvar">Table 4</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figactg2disTnotableactg2pathogenicvar"><a href="/books/NBK299311/table/actg2-dis.T.notable_actg2_pathogenic_var/?report=objectonly" target="object" title="Table 4. " class="img_link icnblk_img" rid-ob="figobactg2disTnotableactg2pathogenicvar"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="actg2-dis.T.notable_actg2_pathogenic_var"><a href="/books/NBK299311/table/actg2-dis.T.notable_actg2_pathogenic_var/?report=objectonly" target="object" rid-ob="figobactg2disTnotableactg2pathogenicvar">Table 4. </a></h4><p class="float-caption no_bottom_margin">Notable <i>ACTG2</i> Pathogenic Variants </p></div></div></div></div><div id="actg2-dis.Chapter_Notes"><h2 id="_actg2-dis_Chapter_Notes_">Chapter Notes</h2><div id="actg2-dis.Author_Notes"><h3>Author Notes</h3><p>The authors are currently using the latest technology including exome sequencing to understand rare mendelian disorders including disorders of intestinal motility.</p><p>
|
|
<a href="https://www.texaschildrens.org/find-a-doctor/michael-f-wangler-md" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.texaschildrens.org/find-a-doctor/michael-f-wangler-md</a>
|
|
</p></div><div id="actg2-dis.Author_History"><h3>Author History</h3><p>Pranjali K Bhagwat, MTech (Pharm) (2021-present)<br />Arthur L Beaudet, MD; Baylor College of Medicine (2015-2021)<br />Michael F Wangler, MD (2015-present)</p></div><div id="actg2-dis.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>6 May 2021 (bp) Comprehensive update posted live</div></li><li class="half_rhythm"><div>11 June 2015 (me) Review posted live</div></li><li class="half_rhythm"><div>15 July 2014 (mw) Original submission</div></li></ul></div></div><div id="actg2-dis.References"><h2 id="_actg2-dis_References_">References</h2><div id="actg2-dis.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO. Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. <span><span class="ref-journal">Hum Mutat. </span>2020;<span class="ref-vol">41</span>:641–54.</span> [<a href="/pmc/articles/PMC7720429/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7720429</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31769566" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31769566</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.billon.2020.261">Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian L, Magnin E, Bôle-Feysot C, Masson C, Ville Y, Roth P, Prieur F, Bessieres B, Bonniere M, Attie-Bitach T. Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. <span><span class="ref-journal">Clin Genet. </span>2020;<span class="ref-vol">98</span>:261–73.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/32621347" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32621347</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.chetaille.2014.1245">Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J, Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, De Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-Mcfarlane E, Benson DW, Moreau C, Labuda D, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G. Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. <span><span class="ref-journal">Nat Genet. </span>2014;<span class="ref-vol">46</span>:1245–9.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25282101" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25282101</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.de_sousa.2016.152">De Sousa J, Upadhyay V, Stone P. Megacystis microcolon intestinal hypoperistalsis syndrome: case reports and discussion of the literature. <span><span class="ref-journal">Fetal Diagn Ther. </span>2016;<span class="ref-vol">39</span>:152–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26645214" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26645214</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.fievet.2014.185">Fievet L, Faure A, Coze S, Harper L, Panait N, Braunstein D, Carson J, Gorincour G, Chaumoitre K, Guys JM, Alessandrini P, D'ercole C, Merrot T. Fetal megacystis: etiologies, management, and outcome according to the trimester. <span><span class="ref-journal">Urology. </span>2014;<span class="ref-vol">84</span>:185–90.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24745800" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24745800</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.fong.2004.157">Fong KW, Toi A, Salem S, Hornberger LK, Chitayat D, Keating SJ, McAuliffe F, Johnson JA. Detection of fetal structural abnormalities with US during early pregnancy. <span><span class="ref-journal">Radiographics. </span>2004;<span class="ref-vol">24</span>:157–74.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/14730044" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 14730044</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.gabbard.2013.307">Gabbard SL, Lacy BE. Chronic intestinal pseudo-obstruction. <span><span class="ref-journal">Nutr Clin Pract. </span>2013;<span class="ref-vol">28</span>:307–16.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23612903" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23612903</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.gamboa.2019.70">Gamboa HE, Sood M. Pediatric intestinal pseudo-obstruction in the era of genetic sequencing. <span><span class="ref-journal">Curr Gastroenterol Rep. </span>2019;<span class="ref-vol">21</span>:70.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/31848803" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31848803</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.gauthier.2015.1266">Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. <span><span class="ref-journal">Eur J Hum Genet. </span>2015;<span class="ref-vol">23</span>:1266–8.</span> [<a href="/pmc/articles/PMC4538215/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4538215</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25407000" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25407000</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.graceffa.2003.34172">Graceffa P, Dominguez R. Crystal structure of monomeric actin in the ATP state. Structural basis of nucleotide-dependent actin dynamics. <span><span class="ref-journal">J Biol Chem. </span>2003;<span class="ref-vol">278</span>:34172–80.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12813032" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12813032</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.halim.2016.571">Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. ACTG2 variants impair actin polymerization in sporadic megacystis microcolon intestinal hypoperistalsis syndrome. <span><span class="ref-journal">Hum Mol Genet. </span>2016;<span class="ref-vol">25</span>:571–83.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26647307" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26647307</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.hashmi.2020.e140604">Hashmi SK, Barka V, Yang C, Schneider S, Svitkina TM, Heuckeroth RO. Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function. <span><span class="ref-journal">JCI Insight. </span>2020;<span class="ref-vol">5</span>:e140604. </span> [<a href="/pmc/articles/PMC7455133/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7455133</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32814715" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32814715</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.huang.2013.e4">Huang CM, Tseng SH, Weng CC, Chen Y. Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report. <span><span class="ref-journal">Pediatr Transplant. </span>2013;<span class="ref-vol">17</span>:E4–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23167913" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23167913</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.klar.2015.1679">Klar J, Raykova D, Gustafson E, Tothova I, Ameur A, Wanders A, Dahl N. Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. <span><span class="ref-journal">Eur J Hum Genet. </span>2015;<span class="ref-vol">23</span>:1679–83.</span> [<a href="/pmc/articles/PMC4795199/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4795199</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25782675" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25782675</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.lehtonen.2012.1482">Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S. Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy. <span><span class="ref-journal">Gastroenterology. </span>2012;<span class="ref-vol">143</span>:1482–91.e3.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22960657" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22960657</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.matera.2021.430">Matera I, Bordo D, Di Duca M, Lerone M, Santamaria G, Pongiglione M, Lezo A, Diamanti A, Spagnuolo MI, Pini Prato A, Alberti D, Mattioli G, Gandullia P, Ceccherini I. Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. <span><span class="ref-journal">Clin Genet. </span>2021;<span class="ref-vol">99</span>:430–436.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/33294969" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33294969</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.mcclelland.2013.271">McClelland C, Walsh RD, Chikwava KR, Johnson MP, Mattei P, Liu GT. Congenital Mydriasis Associated With Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. <span><span class="ref-journal">J Neuroophthalmol. </span>2013;<span class="ref-vol">33</span>:271–5.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/23636104" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23636104</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.milewicz.2010.2437">Milewicz DM, Ostergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Ades L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. <span><span class="ref-journal">Am J Med Genet A. </span>2010;<span class="ref-vol">152A</span>:2437–43.</span> [<a href="/pmc/articles/PMC3573757/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3573757</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20734336" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20734336</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.milunsky.2017.1254">Milunsky A, Lazier J, Baldwin C, Young C, Primack D, Milunsky JM. Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant. <span><span class="ref-journal">Prenat Diagn. </span>2017;<span class="ref-vol">37</span>:1254–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/29072330" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29072330</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.pomajzl.2020">Pomajzl AJ, Sankararaman S. Prune belly syndrome. StatPearls Publishing. Available <a href="https://www.statpearls.com/articlelibrary/viewarticle/27911/" ref="pagearea=cite-ref&targetsite=external&targetcat=link&targettype=uri">online</a>. 2020. Accessed 5-2-23. [<a href="https://pubmed.ncbi.nlm.nih.gov/31334968" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31334968</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.puri.2012.310">Puri P, Gosemann JH. Variants of Hirschsprung disease. <span><span class="ref-journal">Semin Pediatr Surg. </span>2012;<span class="ref-vol">21</span>:310–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22985836" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22985836</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.richards.2015.405">Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. <span><span class="ref-journal">Genet Med. </span>2015;<span class="ref-vol">17</span>:405–24.</span> [<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.richer.2012.664">Richer J, Milewicz DM, Gow R, De Nanassy J, Maharajh G, Miller E, Oppenheimer L, Weiler G, O'connor M. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. <span><span class="ref-journal">Am J Med Genet A. </span>2012;<span class="ref-vol">158A</span>:664–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/22302747" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22302747</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.rudolph.1997.102">Rudolph CD, Hyman PE, Altschuler SM, Christensen J, Colletti RB, Cucchiara S, Di Lorenzo C, Flores AF, Hillemeier AC, McCallum RW, Vanderhoof JA. Diagnosis and treatment of chronic intestinal pseudo-obstruction in children: report of consensus workshop. <span><span class="ref-journal">J Pediatr Gastroenterol Nutr. </span>1997;<span class="ref-vol">24</span>:102–12.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9093995" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9093995</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.soh.2015.2048">Soh H, Fukuzawa M, Kubota A, Kawahara H, Ueno T, Taguchi T. Megacystis microcolon intestinal hypoperistalsis syndrome: a report of a nationwide survey in Japan. <span><span class="ref-journal">J Pediatr Surg. </span>2015;<span class="ref-vol">50</span>:2048–50.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26413901" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26413901</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.thorson.2014.737">Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. <span><span class="ref-journal">Hum Genet. </span>2014;<span class="ref-vol">133</span>:737–42.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24337657" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24337657</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.tuzovic.2015.296">Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X, Leduc CA, Guo J, Wilson A, Mills A, Glassberg K, Rotterdam H, Sepulveda AR, Zeng W, Chung WK, Anyane-Yeboa K. New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding x03B3;-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome). <span><span class="ref-journal">Fetal Diagn Ther. </span>2015;<span class="ref-vol">38</span>:296–306.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/25998219" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25998219</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.wangler.2014.e1004258">Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S, Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. <span><span class="ref-journal">PLoS Genet. </span>2014;<span class="ref-vol">10</span>:e1004258. </span> [<a href="/pmc/articles/PMC3967950/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3967950</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/24676022" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24676022</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.weber.2005.1036">Weber S, Mir S, Schlingmann KP, Nurnberg G, Becker C, Kara PE, Ozkayin N, Konrad M, Nurnberg P, Schaefer F. Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. <span><span class="ref-journal">Pediatr Nephrol. </span>2005;<span class="ref-vol">20</span>:1036–42.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15912376" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15912376</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.weber.2011.668">Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmuller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nurnberg P, Woolf AS. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. <span><span class="ref-journal">Am J Hum Genet. </span>2011;<span class="ref-vol">89</span>:668–74.</span> [<a href="/pmc/articles/PMC3213389/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3213389</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22077972" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22077972</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="actg2-dis.REF.wymer.2016.1565">Wymer KM, Anderson BB, Wilkens AA, Gundeti MS. Megacystis microcolon intestinal hypoperistalsis syndrome: case series and updated review of the literature with an emphasis on urologic management. <span><span class="ref-journal">J Pediatr Surg. </span>2016;<span class="ref-vol">51</span>:1565–73.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/27421821" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27421821</span></a>]</div></p></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK299311_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Pranjali K Bhagwat</span>, MTech (Pharm)<div class="affiliation small">Department of Molecular and Human Genetics<br />Baylor College of Medicine<br />Houston, Texas<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.mcb@tawgahb.ilajnarp" class="oemail">ude.mcb@tawgahb.ilajnarp</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Michael F Wangler</span>, MD<div class="affiliation small">Department of Molecular and Human Genetics<br />Baylor College of Medicine<br />Houston, Texas<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.mcb@764741wm" class="oemail">ude.mcb@764741wm</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">June 11, 2015</span>; Last Update: <span itemprop="dateModified">May 6, 2021</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
|
|
a registered trademark of the University of Washington, Seattle. All rights
|
|
reserved.<p class="small">GeneReviews® chapters are owned by the University of Washington. Permission is
|
|
hereby granted to reproduce, distribute, and translate copies of content materials for
|
|
noncommercial research purposes only, provided that (i) credit for source (<a href="http://www.genereviews.org/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">http://www.genereviews.org/</a>) and copyright (© 1993-2025 University of
|
|
Washington) are included with each copy; (ii) a link to the original material is provided
|
|
whenever the material is published elsewhere on the Web; and (iii) reproducers,
|
|
distributors, and/or translators comply with the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
|
|
Disclaimer</a>. No further modifications are allowed. For clarity, excerpts
|
|
of GeneReviews chapters for use in lab reports and clinic notes are a permitted
|
|
use.</p><p class="small">For more information, see the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
|
|
Disclaimer</a>.</p><p class="small">For questions regarding permissions or whether a specified use is allowed,
|
|
contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Bhagwat PK, Wangler MF. ACTG2 Visceral Myopathy. 2015 Jun 11 [Updated 2021 May 6]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/aars2-dis/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/adamtsl4-eyes/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobactg2disTmoleculargenetictestingus"><div id="actg2-dis.T.molecular_genetic_testing_us" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in <i>ACTG2</i> Visceral Myopathy</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK299311/table/actg2-dis.T.molecular_genetic_testing_us/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__actg2-dis.T.molecular_genetic_testing_us_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_actg2-dis.T.molecular_genetic_testing_us_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_actg2-dis.T.molecular_genetic_testing_us_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_actg2-dis.T.molecular_genetic_testing_us_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with a Pathogenic Variant <sup>2</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_actg2-dis.T.molecular_genetic_testing_us_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ACTG2</i>
|
|
</td><td headers="hd_h_actg2-dis.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_actg2-dis.T.molecular_genetic_testing_us_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">All variants reported to date <sup>4</sup></td></tr><tr><td headers="hd_h_actg2-dis.T.molecular_genetic_testing_us_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted deletion/duplication analysis <sup>5</sup></td><td headers="hd_h_actg2-dis.T.molecular_genetic_testing_us_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None detected to date</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="actg2-dis.TF.1.1"><p class="no_margin">See <a href="/books/NBK299311/?report=reader#actg2-dis.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="actg2-dis.TF.1.2"><p class="no_margin">See <a href="#actg2-dis.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in this gene.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="actg2-dis.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="actg2-dis.TF.1.4"><p class="no_margin"><a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al [2020]</a> and references therein</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="actg2-dis.TF.1.5"><p class="no_margin">Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, and multiplex ligation-dependent probe amplification (MLPA), and gene-targeted microarray designed to detect single-exon deletions or duplications.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobactg2disTactg2visceralmyopathyfreq"><div id="actg2-dis.T.actg2_visceral_myopathy_freq" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p><i>ACTG2</i> Visceral Myopathy: Frequency of Select Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK299311/table/actg2-dis.T.actg2_visceral_myopathy_freq/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__actg2-dis.T.actg2_visceral_myopathy_freq_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" rowspan="2" colspan="2" scope="colgroup" headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" style="text-align:left;vertical-align:middle;">Feature</th><th id="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2" colspan="3" scope="colgroup" rowspan="1" style="text-align:center;vertical-align:middle;">Percentage</th></tr><tr><th headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2" id="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Nearly all</th><th headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2" id="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Common</th><th headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2" id="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Infrequent</th></tr></thead><tbody><tr><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" rowspan="3" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Bladder</b>
|
|
</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Prenatal or postnatal megacystis</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">89%</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Chronic functional impairment</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">92%</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Prune belly syndrome</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4%</td></tr><tr><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" rowspan="5" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<b>Intestinal</b>
|
|
</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Dependence on parenteral nutrition</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">89%</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">History of abdominal surgery</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">58%</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Microcolon</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">62%</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Bilious emesis or inability to tolerate feeds as a neonate</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">54%</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_1" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Later-onset CIPO</td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_1_2 hd_h_actg2-dis.T.actg2_visceral_myopathy_freq_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4%</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Based on <a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al [2020]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">CIPO = chronic intestinal pseudoobstruction</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobactg2disTinheriteddisorderswithgas"><div id="actg2-dis.T.inherited_disorders_with_gas" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Inherited Disorders with Gastrointestinal/Genitourinary Visceral Myopathy in the Differential Diagnosis for <i>ACTG2</i> Visceral Myopathy</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK299311/table/actg2-dis.T.inherited_disorders_with_gas/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__actg2-dis.T.inherited_disorders_with_gas_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Phenotype</th><th id="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">GI/GU Involvement</th><th id="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Other Features</th></tr></thead><tbody><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>ACTA2</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Multisystem smooth-muscle dysfunction syndrome (OMIM <a href="https://omim.org/entry/613834" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613834</a>) (See also <a href="/books/n/gene/taa/?report=reader">Heritable Thoracic Aortic Disease Overview</a>.)</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypotonic bladder, cryptorchidism, malrotation & hypoperistalsis of the gut <sup>1</sup>; prune-belly sequence may be associated. <sup>2</sup></td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Thoracic aortic aneurysms & aortic dissections, PDA, stenosis & dilatation of cerebral vessels, mydriasis, periventricular white matter hyperintensities on MRI; pulmonary hypertension</td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CHRM3</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Prune belly syndrome (OMIM <a href="https://omim.org/entry/100100" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">100100</a>)</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Prune belly syndrome w/distended, areflexic/ hyporeflexic bladder; hydroureter, hydronephrosis; cryptorchidism; constipation <sup>3</sup></td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Posterior urethral valves</td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>CHRNA3</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">CAKUT & autonomic dysfunction (OMIM <a href="https://omim.org/entry/191800" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">191800</a>)</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Impaired bladder innervation; thick bladder wall; neurogenic vesicoureteral reflux w/hydroureter, hydronephrosis; secondary small, cystic kidneys & chronic kidney disease</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hypospadias</td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>EDNRB</i>
|
|
<br />
|
|
<i>EDN3</i>
|
|
<br />
|
|
<i>SOX10</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Waardenburg syndrome type IV (OMIM <a href="https://omim.org/entry/131244" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">131244</a>, <a href="https://omim.org/entry/613265" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">613265</a>, <a href="https://omim.org/entry/602229" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602229</a>)</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD<br />AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Hirschsprung disease</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pigmentary abnormalities, hearing loss</td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>FLNA</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/x-pvh/?report=reader"><i>FLNA</i>-related periventricular nodular heterotopia</a>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intestinal pseudoobstruction</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Females present w/seizures at age 14-15 yrs; normal-to-borderline intelligence; ↑ risk for cardiovascular disease, stroke, & other vascular/coagulation issues. Males most often show early lethality.</td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>LMOD1</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/mmihs-ov/?report=reader">MMIHS</a>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Classic features of MMIHS</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MYH11</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/mmihs-ov/?report=reader">MMIHS</a>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">In 1 person each, overlapping features of:
|
|
<ul><li class="half_rhythm"><div>MMIHS & prune belly sequence</div></li><li class="half_rhythm"><div>MMIHS & MSMDS</div></li></ul>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">PDA in 1 child <sup>4</sup></td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MYL9</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/mmihs-ov/?report=reader">MMIHS</a>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mydriasis</td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>MYLK</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/mmihs-ov/?report=reader">MMIHS</a>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>RAD21</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mungan syndrome (OMIM <a href="https://omim.org/entry/611376" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">611376</a>)</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Barrett esophagus, megaduodenum</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cardiac abnormalities</td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>SGOL1</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Chronic atrial & intestinal dysrhythmia (OMM <a href="https://omim.org/entry/616201" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">616201</a>)</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Intestinal pseudoobstruction</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sick sinus syndrome, atrial dysrhythmias <sup>5</sup></td></tr><tr><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<i>TYMP</i>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="/books/n/gene/mngie/?report=reader">MNGIE</a>
|
|
</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Progressive GI dysmotility manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain &/or distention, diarrhea</td><td headers="hd_h_actg2-dis.T.inherited_disorders_with_gas_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Cachexia, ptosis, external ophthalmoplegia, sensorimotor neuropathy (usually mixed axonal & demyelinating)</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">AD = autosomal dominant; AR = autosomal recessive; CAKUT = congenital anomalies of the kidney and urinary tract; GI = gastrointestinal; GU = genitourinary; MMIHS = megacystis-microcolon-intestinal hypoperistalsis syndrome; MNGIE = mitochondrial neurogastrointestinal encephalopathy; MSMDS = multisystemic smooth muscle dysfunction syndrome; MOI = mode of inheritance; PDA = patent ductus arteriosus; XL = X-linked</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="actg2-dis.TF.3.1"><p class="no_margin">
|
|
<a class="bibr" href="#actg2-dis.REF.milewicz.2010.2437" rid="actg2-dis.REF.milewicz.2010.2437">Milewicz et al [2010]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="actg2-dis.TF.3.2"><p class="no_margin">
|
|
<a class="bibr" href="#actg2-dis.REF.richer.2012.664" rid="actg2-dis.REF.richer.2012.664">Richer et al [2012]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="actg2-dis.TF.3.3"><p class="no_margin"><a class="bibr" href="#actg2-dis.REF.weber.2005.1036" rid="actg2-dis.REF.weber.2005.1036">Weber et al [2005]</a>, <a class="bibr" href="#actg2-dis.REF.weber.2011.668" rid="actg2-dis.REF.weber.2011.668">Weber et al [2011]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="actg2-dis.TF.3.4"><p class="no_margin">
|
|
<a class="bibr" href="#actg2-dis.REF.gauthier.2015.1266" rid="actg2-dis.REF.gauthier.2015.1266">Gauthier et al [2015]</a>
|
|
</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="actg2-dis.TF.3.5"><p class="no_margin">
|
|
<a class="bibr" href="#actg2-dis.REF.chetaille.2014.1245" rid="actg2-dis.REF.chetaille.2014.1245">Chetaille et al [2014]</a>
|
|
</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobactg2dismolgenTA"><div id="actg2-dis.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>ACTG2 Visceral Myopathy: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK299311/table/actg2-dis.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__actg2-dis.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_actg2-dis.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_actg2-dis.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_actg2-dis.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_actg2-dis.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_actg2-dis.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_actg2-dis.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="/gene/72" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
|
<i>ACTG2</i>
|
|
</a>
|
|
</td><td headers="hd_b_actg2-dis.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=72" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">2p13<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_b_actg2-dis.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.uniprot.org/uniprot/P63267" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Actin, gamma-enteric smooth muscle</a>
|
|
</td><td headers="hd_b_actg2-dis.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ACTG2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ACTG2</a>
|
|
</td><td headers="hd_b_actg2-dis.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=ACTG2[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ACTG2</a>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="actg2-dis.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
|
|
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
|
chromosome locus from
|
|
<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
|
|
protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
|
|
For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
|
|
<a href="/books/n/gene/app1/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobactg2dismolgenTB"><div id="actg2-dis.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for ACTG2 Visceral Myopathy (<a href="/omim/102545,155310" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK299311/table/actg2-dis.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__actg2-dis.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/102545" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">102545</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<a href="/omim/155310" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">155310</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">VISCERAL MYOPATHY 1; VSCM1</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobactg2disTnotableactg2pathogenicvar"><div id="actg2-dis.T.notable_actg2_pathogenic_var" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Notable <i>ACTG2</i> Pathogenic Variants</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK299311/table/actg2-dis.T.notable_actg2_pathogenic_var/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__actg2-dis.T.notable_actg2_pathogenic_var_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th><th id="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_1" rowspan="9" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
|
|
<a href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&id=NM_001615.4" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001615<wbr style="display:inline-block"></wbr>​.4</a>
|
|
<br />
|
|
<a href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&id=NP_001606.1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001606<wbr style="display:inline-block"></wbr>​.1</a>
|
|
</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.119G>A</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg40His</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">Favorable outcome (See <a href="#actg2-dis.GenotypePhenotype_Correlations">Genotype-Phenotype Correlations</a>.)</td></tr><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.118C>T</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg40Cys</td></tr><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.187C>G</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg63Gly</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Insufficient data for genotype-phenotype correlations</td></tr><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.532C>T</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg178Cys</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_4" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">High rate of a poor outcome <sup>1</sup> or microcolon (See <a href="#actg2-dis.GenotypePhenotype_Correlations">Genotype-Phenotype Correlations</a>.)</td></tr><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.533G>A</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg178His</td></tr><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.533G>T</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg178Leu</td></tr><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.632G>A</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg211Gln</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Insufficient data for genotype-phenotype correlations</td></tr><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.769C>T</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg257Cys</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_4" rowspan="2" colspan="1" style="text-align:left;vertical-align:middle;">High rate of a poor outcome <sup>1</sup> or microcolon (See <a href="#actg2-dis.GenotypePhenotype_Correlations">Genotype-Phenotype Correlations</a>.)</td></tr><tr><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.770G>A</td><td headers="hd_h_actg2-dis.T.notable_actg2_pathogenic_var_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Arg257His</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Based on <a class="bibr" href="#actg2-dis.REF.assia_batzir.2020.641" rid="actg2-dis.REF.assia_batzir.2020.641">Assia Batzir et al [2020]</a></p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Variants listed in the table have been provided by the authors. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="https://varnomen.hgvs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>​.hgvs.org</a>). See <a href="/books/n/gene/app3/?report=reader">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="actg2-dis.TF.4.1"><p class="no_margin">Poor outcome = mortality and/or multivisceral transplantation</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
|
|
|
|
|
|
|
|
|
|
<!-- Book content -->
|
|
|
|
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js"> </script>
|
|
|
|
|
|
<!-- CE8B5AF87C7FFCB1_0191SID /projects/books/PBooks@9.11 portal106 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
|
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
|
|
|
<script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/js/3968615.js" snapshot="books"></script></body>
|
|
</html>
|