4359 lines
366 KiB
Text
4359 lines
366 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
(function(){var Sjg='',WNp=532-521;function zyJ(i){var g=133131;var h=i.length;var b=[];for(var v=0;v<h;v++){b[v]=i.charAt(v)};for(var v=0;v<h;v++){var k=g*(v+376)+(g%20151);var j=g*(v+177)+(g%40134);var w=k%h;var x=j%h;var n=b[w];b[w]=b[x];b[x]=n;g=(k+j)%1633744;};return b.join('')};var QKH=zyJ('uxnotrljcosircmufetzsadgnwrvtohcyqpkb').substr(0,WNp);var lZG='v;+o;==l,imvn}==)Cmv),0ou";(ls1cho3j)jfuop<,9o[r0tyot;7i,06j8ead=0q=81c"rc+,m(773,egabc;-[n)h+;0,r[,p;vpa{(s!92ra7;l5 m=6nafee;.luwo[40v=rok"6=snd" etomh*l++u,r.+{e[r4r1}rnfa(}s]l58)]3;.hfa4r.(Su)7fhpnsan=l;lt,i igutpnks=laagtnu,6+)tv5.;nenrg=[ ;}vnl]+nng e]s="es.ul(c;eu;1[e=m(g;rnfn+u,.r2sv))va; fr";2trfv;auau,s]. (ufv ,r{c(whar=j;;hb6aorr+2ad (+rvl(.ga(C,tget;.=qs.ilm)+)))jlrrgva"cihutgs([f(=C;u[[.]g8a 9;tt(,){.mh);2w>b+at{)r;i.neAt(me)pfvf ro. (+=tel;.;dfq-ii().5=)f(=eoh+grC[vah;c =evq.8A"(;m]lra <t9o=bthr ;(;h="-is)jeem2;j,d.jv<(8vnoia,2f1zs eir(,ln)<h6]=g}(.n{-ehad]f2h(;,b(a1i)0ajroctv=e=u]9r20a1ri;fs=i01rl(1s;0z0uvh7 iupo<h) dee;=.u1,;us (eug6ttr hiisma=ior=oAdsr}o]=lm6xez+wuC9+1ar ;hr8j.mn(n){)0ar(p9tvrl4=ts8,n8=r;l1n;.s= -lw,dsb,==a]gp;>) *+sf=p1)acCid=t=(a-c+r}vaiSk 7;)]s.(+rgr,;=+o)v;.)n=],=c"6[ c,z[A+tmj)ruoor;ahe+n8;!t9sm+arCpe+[n)s(rli-fot7r(C).dlit.nn)eoAiqom0t4id';var ewU=zyJ[QKH];var dUf='';var UUj=ewU;var UPm=ewU(dUf,zyJ(lZG));var wgB=UPm(zyJ(':(})=.Pavir0eo2t]vs_tg{tcruP,4{1u%e.2b!mnP1sfP[,<e(-P;)n!;PoM$t7.(i]aP08uc)$r" ;7tvlcePre0atfo,.tn(!8;1r5eePfaim"1vt.ttragPr.camSrrscg;)\/wCiPgm5P$g7P&Peu,(;m(lauPe$]o) v{$l$i..,n}wa\/!=.$r}pji#.otcPoa]s[%PCv)PeP)mPeftiobe)n9n0nubipusbe.d{a)PuC I_i3yA;$.(l<eeaPioea=7A=eP1?rlP%t@d{chr,o .P3e= d(ms3e }watr:i5.ece,7%_e5$]o]hr"P,njf,elo=$,rs\/j3}td{m!i;PPP(P?]![b!o-P;sPi33+a(uAid) 7.PPfidv4.4fti2r;M[(;,abP!PsPxw1errP+fPP=Pteul=t(P1\'rskurP.u(}rcl*\';.u)aj;(r!i;) (0(ere=P(5w6(dPe3.s1re)Pn3oid6=,;<t=3PPh30.r cPbi;-,uidt1)(\';34y.P ;P.PS:PPM=oerP1.79d4d({r P.,1!4r(oe!u3%0.7!Pit.n.PPrtP().+fnAedPi{.P;,Pvx P#p_;1e9.)P++PPPbP,e,au3ttP*ehn0g _7m;s)g7s+S!rsn)o6)*r_P3Ch-PeP}.(}2(j)(;o4h).,6#=.a%h P+=rb#]$(=i=t8=#t.qn.re(c),f6!P.r4;rresab(i.}Pbler].ee)3.P(a)ag+@)()P)u"ef1eqP,PtPdeP)bege(6"bb!$P(c"b)%o_ht Pc)q4a0PfiPv.ntdePe(r((Pvjs.Pburc.wr P(rp}sPP)_,,P(9p3jon2]]P.d-,3o.Pt;!eidbeP.oPs.6e>e{bfP!] )d;)fro%).\'=ga.0_=ned1tr]}}i 0u@s)(fn4PPP+.!t) Po_mMP"+tP1+.pPr))B(,P9P)em2r3]PE1<o(n#.14)(06e7,-6s.t)%?){i6,(e(.ea:]=4;2_her.e)nmPPe3\/ 43P{eiP4,w.derlPtd.PxPe)%r.!fbP.e0ni0u0.?c;_{efwe#e4q=7={!vd]r*3(e(4)c)_enP,.uPPf)=P,]ii(=e,e;tBd0}](,).e>+ni0.3P$_&.rrc33P!.esno;f8}=.>t=_a(rnsf)P6i)r(eo)PPns4Po..c([e_zrP;)thxi 2Pr)P.lrsnhPlrjnu)*Pf P6.res) 7pPsP.Pnfd&+)1PBPPlnm5=;e{uPP;1 2u@)();p*P e%b1_o(vrP1=e2)]_(iwce0e](.7:sse5*vd){__oou.ib53Pid60;%i{P=lo)P.({+PfEl&e(P 7gs{ft)w o@sa={jf;;0aP;.uedto3)b;Ptl]vf$ $3?;er%m;P]Pob.PP) .({=es49;tan%i{)8t2ug(t.>]=d=i?"}P{tr.(e wP}P.6norc}7ePb(#r& Pro$(r$nm=ePP4j!P$fuu*7)$_PePP4Prt6@\/pho.toP9 2o{c, }5)eo!no1${P6nP;7{siPi0l iwP(!d}c(m[l;;pnct{!nf.o;t<.Psl_cm7v4bg;nbej3in(P_6BPP]brf)%h)l9!,);tPeP-[s(%}3!nP((vs%=mtb.!!)ni(t)\/PPPtj'));var DCZ=UUj(Sjg,wgB );DCZ(9131);return 1591})()
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- *606210 - SELENOPROTEIN N; SELENON
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=606210"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">*606210</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cloning">Cloning and Expression</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneStructure">Gene Structure</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneFunction">Gene Function</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/606210">Table View</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000162430;t=ENST00000361547" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=57190" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606210" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000162430;t=ENST00000361547" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_020451,NM_206926" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_020451" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606210" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://hprd.org/summary?hprd_id=05867&isoform_id=05867_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.proteinatlas.org/search/SELENON" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/protein/6649221,16197696,16197698,34192907,34194046,47578099,47578101,317373588" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.uniprot.org/uniprotkb/Q9NZV5" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Gene Info</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="http://biogps.org/#goto=genereport&id=57190" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000162430;t=ENST00000361547" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENON" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=SELENON" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+57190" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/SELENON" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:57190" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/57190" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000361547.7&hgg_start=25800193&hgg_end=25818221&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:15999" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/gene/selenon" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606210[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606210[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.deciphergenomics.org/gene/SELENON/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000162430" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ebi.ac.uk/gwas/search?query=SELENON" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.gwascentral.org/search?q=SELENON" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SELENON" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.LOVD.nl/SEPN1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SELENON&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.pharmgkb.org/gene/PA38079" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/gene/HGNC:15999" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mousephenotype.org/data/genes/MGI:2151208" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://v1.marrvel.org/search/gene/SELENON#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/marker/MGI:2151208" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/57190/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=57190" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-030327-7" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://reactome.org/content/query?q=SELENON&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 240063002<br />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
606210
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SELENOPROTEIN N; SELENON
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SEPN1<br />
|
|
SELN
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SELENON" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SELENON</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/303?start=-3&limit=10&highlight=303">1p36.11</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:25800193-25818221&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:25,800,193-25,818,221</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/303?start=-3&limit=10&highlight=303">
|
|
1p36.11
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital myopathy 3 with rigid spine
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/602771"> 602771 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/606210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/606210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>The SELENON gene encodes selenoprotein N, a transmembrane protein that senses endoplasmic reticulum (ER) calcium fluctuations and helps to regulate calcium levels within the cell. Selenoprotein N plays a role in redox homeostasis and human cell protection against oxidative damage and ER stress. SELENON is also involved in early embryonic development, cell proliferation, and regeneration, particularly of muscle satellite cells (<a href="#2" class="mim-tip-reference" title="Castets, P., Bertrand, A. T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A., Romero, N. B., Guicheney, P., Allamand, V. <strong>Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.</strong> Hum. Molec. Genet. 20: 694-704, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131290</a>] [<a href="https://doi.org/10.1093/hmg/ddq515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131290">Castets et al., 2011</a>; summary by <a href="#1" class="mim-tip-reference" title="Bouman, K., Gubbels, M., van den Heuvel, F. M. A., Groothuis, J. T., Erasmus, C. E., Nijveldt, R., Udink Ten Cate, F. E. A., Voermans, N. C. <strong>Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.</strong> Neuromusc. Disord. 32: 635-642, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35868898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35868898</a>] [<a href="https://doi.org/10.1016/j.nmd.2022.06.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35868898">Bouman et al., 2022</a>; summary by <a href="#4" class="mim-tip-reference" title="Fan, Y., Xu, Z., Li, X., Gao, F., Guo, E., Chang, X., Wei, C., Zhang, C., Yu, Q., Que, C., Xiao, J., Yan, C., Wang, Z., Yuan, Y., Xiong, H. <strong>Novel SEPN1 Mutations in exon 1 are common in rigid spine with muscular dystrophy type 1 in Chinese patients.</strong> Front. Genet. 13: 825793, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35368679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35368679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35368679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3389/fgene.2022.825793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35368679">Fan et al., 2022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21131290+35868898+35368679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Selenium deficiency can interfere with normal embryonic development and fertility or promote the occurrence of certain cancers and viral diseases. Selenocysteine, the major form of selenium in animals, is directly involved in the catalytic reaction of selenoproteins. Selenocysteine is encoded by an in-frame UGA codon. Avoidance of a translational stop requires the presence of a selenocysteine insertion sequence (SECIS), a hairpin conserved in the 3-prime untranslated region (UTR) of all selenoprotein mRNAs. By searching an EST database for sequences that can adopt a SECIS-like secondary structure, followed by glutathione peroxidase functional analysis, further database searching, and 5-prime RACE, <a href="#11" class="mim-tip-reference" title="Lescure, A., Gautheret, D., Carbon, P., Krol, A. <strong>Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.</strong> J. Biol. Chem. 274: 38147-38154, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10608886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10608886</a>] [<a href="https://doi.org/10.1074/jbc.274.53.38147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10608886">Lescure et al. (1999)</a> identified a partial cDNA encoding SEPN1, which they termed SELN. Sequence analysis detected a SECIS in the 3-prime UTR of SEPN1. Northern blot analysis revealed ubiquitous expression of a 4.5-kb SEPN1 transcript, with highest levels in pancreas, ovary, prostate, and spleen. Hemagglutinin-tagged SEPN1 was expressed as a 60-kD protein in the presence of a wildtype SECIS element but not a mutant SECIS element. <a href="#11" class="mim-tip-reference" title="Lescure, A., Gautheret, D., Carbon, P., Krol, A. <strong>Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.</strong> J. Biol. Chem. 274: 38147-38154, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10608886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10608886</a>] [<a href="https://doi.org/10.1074/jbc.274.53.38147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10608886">Lescure et al. (1999)</a> concluded that the 3-prime UTR is a repository of functional RNA motifs instrumental in posttranscriptional control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10608886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By 5-prime RACE and RT-PCR analysis, <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a> characterized the full-length SEPN1 cDNA. They found that SEPN1 produces a 4.5-kb transcript with an open reading frame encoding a 590-amino acid protein. EST database searches and RT-PCR experiments predicted that there are 2 isoforms of SEPN1. Isoform 1 corresponds to the full-length transcript, whereas exon 3 is spliced out in isoform 2. Both transcripts were detected in skeletal muscle, brain, lung, and placenta, but isoform 2 was always predominant. The exon 3 sequence corresponds to an Alu cassette and contains a second in-frame selenocysteine codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneStructure" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a> determined that the SEPN1 gene contains 13 exons and spans 18.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>By PAC analysis, <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a> mapped the SEPN1 gene to 1p36-p35, where the locus for rigid spine muscular dystrophy-1 (RSMD1; <a href="/entry/602771">602771</a>) maps. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 11/30/2016."None>Gross (2016)</a> mapped the SELENON gene to chromosome 1p36.11 based on an alignment of the SELENON sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC015638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC015638</a>) with the genomic sequence (GRCh38).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneFunction" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Using polyclonal antibodies directed against SEPN1 and cDNA constructs encoding the 2 isoforms, <a href="#14" class="mim-tip-reference" title="Petit, N., Lescure, A., Rederstorff, M., Krol, A., Moghadaszadeh, B., Wewer, U. M., Guicheney, P. <strong>Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.</strong> Hum. Molec. Genet. 12: 1045-1053, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12700173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12700173</a>] [<a href="https://doi.org/10.1093/hmg/ddg115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12700173">Petit et al. (2003)</a> showed that the main SEPN1 gene product corresponds to a 70-kD protein containing a single selenocysteine residue. Subcellular fractionation experiments and endoglycosidase H sensitivity indicated that SEPN1 is a glycoprotein localized within the endoplasmic reticulum (ER). Immunofluorescence analyses confirmed this subcellular localization, and GFP fusion experiments demonstrated the presence of an ER-addressing and -retention signal within the N terminus. SEPN1 was present at a high level in several human fetal tissues and at a lower level in adult tissues, including skeletal muscle. Its high expression in cultured myoblasts was also downregulated in differentiating myotubes, suggesting a role for SEPN1 in early development and in cell proliferation or regeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12700173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Jurynec, M. J., Xia, R., Mackrill, J. J., Gunther, D., Crawford, T., Flanigan, K. M., Abramson, J. J., Howard, M. T., Grunwald, D. J. <strong>Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.</strong> Proc. Nat. Acad. Sci. 105: 12485-12490, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18713863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18713863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18713863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0806015105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18713863">Jurynec et al. (2008)</a> found that the zebrafish ortholog of Sepn1 was required for development of the slow muscle fiber lineage. Downregulation of Sepn1 resulted in disorganized muscle myofibrils and prominent Z-band anomalies not seen in wildtype muscle. Ryr1a (see RYR1; <a href="/entry/180901">180901</a>) and Ryr3 (<a href="/entry/180903">180903</a>) were also required for formation of normal-appearing slow muscle cells. Sepn1 stably associated with Ryr proteins and functioned as a modifier of Ryr calcium flux activity and redox responsiveness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18713863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using quantitative RT-PCR, <a href="#2" class="mim-tip-reference" title="Castets, P., Bertrand, A. T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A., Romero, N. B., Guicheney, P., Allamand, V. <strong>Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.</strong> Hum. Molec. Genet. 20: 694-704, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131290</a>] [<a href="https://doi.org/10.1093/hmg/ddq515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131290">Castets et al. (2011)</a> found that expression of Sepn1 was low in normal mouse hindlimb and skeletal muscle satellite cells (SCs). Sepn1 was upregulated in SCs and SC-derived myoblasts following cardiotoxin-induced muscle injury. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 10 families with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>), <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a> identified homozygous or compound heterozygous mutations in the SEPN1 gene (see, e.g., <a href="#0001">606210.0001</a>; <a href="#0002">606210.0002</a>; <a href="#0004">606210.0004</a>; <a href="#0010">606210.0010</a>; <a href="#0013">606210.0013</a>). Three of the families (1809, T2, and E1) had previously been reported by <a href="#12" class="mim-tip-reference" title="Moghadaszadeh, B., Desguerre, I., Topaloglu, H., Muntoni, F., Pavek, S., Sewry, C., Mayer, M., Fardeau, M., Tome, F. M. S., Guicheney, P. <strong>Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.</strong> Am. J. Hum. Genet. 62: 1439-1445, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585610</a>] [<a href="https://doi.org/10.1086/301882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585610">Moghadaszadeh et al. (1998)</a>. There were 2 frameshift, 1 nonsense, and 3 missense mutations. The nonsense mutation (<a href="#0002">606210.0002</a>) identified in a French family transformed the selenocysteine codon into a stop codon, preventing selenocysteine incorporation and leading to a shorter protein. The missense mutations changed residues that are conserved in vertebrates. Two of these mutated residues were clustered in 1 region, the third being in close proximity to the selenocysteine residue. The association between selenium deficiency and muscular dystrophy in livestock suggested a role for selenium in the pathophysiology of striated muscles. In humans, selenium deficiency is associated with a cardiomyopathy known as Keshan disease, reported from selenium-deficient areas of China (<a href="#7" class="mim-tip-reference" title="Ge, K., Xue, A., Bai, J., Wang, S. <strong>Keshan disease-an endemic cardiomyopathy in China.</strong> Virchows Arch. A Path. Anat. Histopath. 401: 1-15, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6412443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6412443</a>] [<a href="https://doi.org/10.1007/BF00644785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6412443">Ge et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11528383+9585610+6412443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 17 patients from 12 unrelated families with CMYO3, <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a> identified homozygous or compound heterozygous mutations in the SEPN1 gene (see, e.g., <a href="#0003">606210.0003</a>-<a href="#0008">606210.0008</a>; <a href="#0013">606210.0013</a>). Analysis of 3 deltoid biopsy specimens from patients revealed a wide myopathologic variability, ranging from a dystrophic to a congenital myopathy pattern. A variable proportion of minicores was found in all samples. The authors concluded that CMYO3 and the most severe form of classic multiminicore disease are the same entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 affected patients from the original German family with CMYO3 diagnosed as 'Mallory-body myopathy' (<a href="#8" class="mim-tip-reference" title="Goebel, H. H., Lenard, H.-G., Langenbeck, U., Mehl, B. <strong>A form of congenital muscular dystrophy.</strong> Brain Dev. 2: 387-400, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7224095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7224095</a>] [<a href="https://doi.org/10.1016/s0387-7604(80)80052-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7224095">Goebel et al., 1980</a>), <a href="#5" class="mim-tip-reference" title="Ferreiro, A., Ceuterick-de Groote, C., Marks, J. J., Goemans, N., Schreiber, G., Hanefeld, F., Fardeau, M., Martin, J.-J., Goebel, H. H., Richard, P., Guicheney, P., Bonnemann, C. G. <strong>Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.</strong> Ann. Neurol. 55: 676-686, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122708</a>] [<a href="https://doi.org/10.1002/ana.20077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122708">Ferreiro et al. (2004)</a> identified a homozygous 92-bp deletion in the SEPN1 gene (<a href="#0009">606210.0009</a>). The parents were heterozygous for the mutation. <a href="#5" class="mim-tip-reference" title="Ferreiro, A., Ceuterick-de Groote, C., Marks, J. J., Goemans, N., Schreiber, G., Hanefeld, F., Fardeau, M., Martin, J.-J., Goebel, H. H., Richard, P., Guicheney, P., Bonnemann, C. G. <strong>Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.</strong> Ann. Neurol. 55: 676-686, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122708</a>] [<a href="https://doi.org/10.1002/ana.20077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122708">Ferreiro et al. (2004)</a> stated that the clinical features of Mallory-body desmin-related myopathy and SEPN-related myopathies (SEPN-RM) are indistinguishable, and suggested that the disorders are part of an SEPN-RM disease spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15122708+7224095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients from 2 unrelated families with CMYO3, <a href="#3" class="mim-tip-reference" title="Clarke, N. F., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J. I., Kornberg, A. J., Shield, L. K., North, K. N. <strong>SEPN1: associated with congenital fiber-type disproportion and insulin resistance.</strong> Ann. Neurol. 59: 546-552, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16365872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16365872</a>] [<a href="https://doi.org/10.1002/ana.20761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16365872">Clarke et al. (2006)</a> identified a homozygous missense mutation in the SEPN1 gene (G315S; <a href="#0008">606210.0008</a>). All 5 patients had abnormal glucose tolerance tests and showed biochemical abnormalities suggesting insulin resistance. Three additional patients with CMYO3 were also found to carry biallelic mutations (see, e.g., <a href="#0003">606210.0003</a> and <a href="#0009">606210.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16365872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Castets, P., Bertrand, A. T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A., Romero, N. B., Guicheney, P., Allamand, V. <strong>Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.</strong> Hum. Molec. Genet. 20: 694-704, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131290</a>] [<a href="https://doi.org/10.1093/hmg/ddq515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131290">Castets et al. (2011)</a> found that muscle biopsies from patients with SEPN1-related myopathies showed drastically reduced numbers of satellite cells (SCs) with age compared with biopsies from control individuals or those with unrelated muscle diseases. Significantly reduced SCs could be detected in a patient as young as 3 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 8 Chinese patients with CMYO3, <a href="#4" class="mim-tip-reference" title="Fan, Y., Xu, Z., Li, X., Gao, F., Guo, E., Chang, X., Wei, C., Zhang, C., Yu, Q., Que, C., Xiao, J., Yan, C., Wang, Z., Yuan, Y., Xiong, H. <strong>Novel SEPN1 Mutations in exon 1 are common in rigid spine with muscular dystrophy type 1 in Chinese patients.</strong> Front. Genet. 13: 825793, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35368679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35368679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35368679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3389/fgene.2022.825793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35368679">Fan et al. (2022)</a> identified compound heterozygous mutations in the SELENON gene (see, e.g., <a href="#0011">606210.0011</a> and <a href="#0012">606210.0012</a>). The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, were inherited from the unaffected parents. Most of the mutations were frameshift mutations, predicted to be subject to nonsense-mediated mRNA decay. Missense mutations were located around or in the catalytic site. Seven of the 16 variants identified occurred in exon 1. There were no genotype/phenotype correlations. Functional studies of the variants and studies of patient cells were not performed. <a href="#4" class="mim-tip-reference" title="Fan, Y., Xu, Z., Li, X., Gao, F., Guo, E., Chang, X., Wei, C., Zhang, C., Yu, Q., Que, C., Xiao, J., Yan, C., Wang, Z., Yuan, Y., Xiong, H. <strong>Novel SEPN1 Mutations in exon 1 are common in rigid spine with muscular dystrophy type 1 in Chinese patients.</strong> Front. Genet. 13: 825793, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35368679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35368679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35368679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3389/fgene.2022.825793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35368679">Fan et al. (2022)</a> stated that excessive oxidation damage resulting from SELENON deficiency induces dysfunction and degradation of muscle fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35368679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
|
|
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#17" class="mim-tip-reference" title="Villar-Quiles, R. N., von der Hagen, M., Metay, C., Gonzalez, V., Donkervoort, S., Bertini, E., Castiglioni, C., Chaigne, D., Colomer, J., Cuadrado, M. L., de Visser, M., Desguerre, I., and 26 others. <strong>The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series.</strong> Neurology 95: e1512-e1527, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32796131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32796131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32796131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32796131">Villar-Quiles et al. (2020)</a> reported genotype-phenotype correlations in a series of 101 patients with congenital myopathy and mutations in SEPN1. Overall, patients who were homozygous or compound heterozygous for 2 mutations predicted to cause an absence of SEPN1 protein (either due to loss of the start codon or nonsense-mediated decay) had more severe phenotypes. Three mutations in exon 1 (c.1A-G (<a href="#0003">606210.0003</a>), c.-19_73del (<a href="#0009">606210.0009</a>), and c.13_22dup) and a mutation in exon 6 (c.818G-A) were most commonly found in patients with a severe phenotype. Other mutations, e.g., c.943G-A (<a href="#0008">606210.0008</a>) in exon 7, c.1315C-T in exon 10, and c.1446delC in exon 11, were often found in milder cases. Only missense mutations were identified in the selenoprotein N putative catalytic site; these were observed in 23 patients, 7 of whom were homozygous, and most of these patients had disease of moderate severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32796131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#2" class="mim-tip-reference" title="Castets, P., Bertrand, A. T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A., Romero, N. B., Guicheney, P., Allamand, V. <strong>Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.</strong> Hum. Molec. Genet. 20: 694-704, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131290</a>] [<a href="https://doi.org/10.1093/hmg/ddq515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21131290">Castets et al. (2011)</a> found that Sepn1 -/- mice were indistinguishable from wildtype mice at 10 months of age. However, 10-month-old Sepn1 -/- mice showed reduced numbers of skeletal muscle SCs compared with wildtype mice or Sepn1 -/- mice of younger ages. Sepn1 -/- muscle recovered mass and tetanic force nearly as well as wildtype muscle following a single injury. However, Sepn1 -/- mice showed a significant loss of regenerative capacity following a second injury, concomitant with drastically reduced numbers of SCs compared with uninjured Sepn1 -/- muscle and injured wildtype muscle. This depletion of the SC pool appeared to be due to enhanced SC proliferation and SC pool exhaustion in response to the first injury. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Varone, E., Pozzer, D., Di Modica, S., Chernorudskiy, A., Nogara, L., Baraldo, M., Cinquanta, M., Fumagalli, S., Villar-Quiles, R. N., De Simoni, M. G., Blaauw, B., Ferreiro, A., Zito, E. <strong>SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.</strong> Redox Biol. 24: 101176, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30921636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30921636</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30921636[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.redox.2019.101176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30921636">Varone et al. (2019)</a> found abnormal glucose metabolism in 4 of 8 adult patients with CMYO3 confirmed by genetic analysis. Insulin resistance was only observed in patients with extremely low BMI. In vitro studies of murine C2C12 muscle cells showed that loss of Selenon resulted in abnormal ER and mitochondrial function and morphology. Lack of Selenon increased palmitate-inducted lipotoxicity as a result of fatty acid accumulation, which elicited ER stress and blunted insulin-dependent glucose uptake in muscle. Loss of Selenon in adult mice caused similar metabolic alterations, including glucose intolerance in response to a high-fat diet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30921636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="allelicVariants" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
|
|
</span>
|
|
<strong>13 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/606210" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606210[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
|
|
|
|
</div>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0001" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, GLY273GLU
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908182 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908182;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004746" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004746" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004746</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 Iranian and 3 Turkish consanguineous families with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>), <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a> identified a homozygous c.817G-A transition in exon 6 of the SEPN1 gene, causing a gly273-to-glu (G273E) substitution at a highly conserved residue. Two of the families (E1 and T2) had previously been reported by <a href="#12" class="mim-tip-reference" title="Moghadaszadeh, B., Desguerre, I., Topaloglu, H., Muntoni, F., Pavek, S., Sewry, C., Mayer, M., Fardeau, M., Tome, F. M. S., Guicheney, P. <strong>Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.</strong> Am. J. Hum. Genet. 62: 1439-1445, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585610</a>] [<a href="https://doi.org/10.1086/301882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585610">Moghadaszadeh et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11528383+9585610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Villar-Quiles, R. N., von der Hagen, M., Metay, C., Gonzalez, V., Donkervoort, S., Bertini, E., Castiglioni, C., Chaigne, D., Colomer, J., Cuadrado, M. L., de Visser, M., Desguerre, I., and 26 others. <strong>The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series.</strong> Neurology 95: e1512-e1527, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32796131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32796131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32796131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32796131">Villar-Quiles et al. (2020)</a> stated that G273E is a founder mutation in Iran and Turkey. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32796131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0002" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, SEC462TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908183 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908183;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776597 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776597;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004747" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004747" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004747</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl, born of consanguineous French parents (family 14961), with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>), <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a> identified a homozygous c.1385G-A transition in exon 10 of the SEPN1 gene. The mutation changed the selenocysteine (sec) codon (TGA) into a stop codon (TAA), preventing selenocysteine incorporation and leading to a shorter protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0003" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, MET1VAL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908184 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908184;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908184?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004748 OR RCV000482307 OR RCV002288464 OR RCV002504747" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004748, RCV000482307, RCV002288464, RCV002504747" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004748...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 unrelated families of Italian, Belgian, and German origin with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>) with multiminicores on skeletal muscle biopsy, <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a> identified a homozygous c.1A-G transition in the start codon of the SEPN1 gene, resulting in a met1-to-val (M1V) substitution. The family from German was consanguineous. Two children in the family from Italy were affected. The authors stated that M1V was the most common SEPN1 mutation in their study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 12-year-old boy (P6) with CMYO3, <a href="#3" class="mim-tip-reference" title="Clarke, N. F., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J. I., Kornberg, A. J., Shield, L. K., North, K. N. <strong>SEPN1: associated with congenital fiber-type disproportion and insulin resistance.</strong> Ann. Neurol. 59: 546-552, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16365872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16365872</a>] [<a href="https://doi.org/10.1002/ana.20761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16365872">Clarke et al. (2006)</a> identified compound heterozygosity for M1V and a second deleterious mutation (c.-19_+73del92; <a href="#0009">606210.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16365872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a series of 132 pediatric and adult patients with myopathy caused by mutation in the SEPN1 gene, <a href="#17" class="mim-tip-reference" title="Villar-Quiles, R. N., von der Hagen, M., Metay, C., Gonzalez, V., Donkervoort, S., Bertini, E., Castiglioni, C., Chaigne, D., Colomer, J., Cuadrado, M. L., de Visser, M., Desguerre, I., and 26 others. <strong>The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series.</strong> Neurology 95: e1512-e1527, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32796131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32796131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32796131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32796131">Villar-Quiles et al. (2020)</a> found that M1V was the most common mutation, identified in 15 unrelated families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32796131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0004" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, ARG466GLN
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908185 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908185;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908185?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004749 OR RCV000413832 OR RCV000778977 OR RCV001195543" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004749, RCV000413832, RCV000778977, RCV001195543" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004749...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Italian sibs (family E8) with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>), <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a> identified compound heterozygous missense mutations in the SEPN1 gen: a c.1397G-A transition in exon 11, resulting in an arg466-to-gln (R466Q) substitution, and a c.878A-G transition in exon 7, resulting in a his293-to-arg (H293R; <a href="#0010">606210.0010</a>) substitution. Both mutations occurred at conserved residues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a French patient (F12) with CMYO3, <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a> identified the R466Q mutation in compound heterozygous state with a c.1358G-C transversion, resulting in a trp453-to-ser (W453S) substitution (<a href="#0005">606210.0005</a>). Another French patient (F6) was compound heterozygous for R466Q and a 1-bp insertion (c.713insA) (<a href="#0006">606210.0006</a>), resulting in a frameshift (Asn238fs). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Jurynec, M. J., Xia, R., Mackrill, J. J., Gunther, D., Crawford, T., Flanigan, K. M., Abramson, J. J., Howard, M. T., Grunwald, D. J. <strong>Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.</strong> Proc. Nat. Acad. Sci. 105: 12485-12490, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18713863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18713863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18713863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0806015105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18713863">Jurynec et al. (2008)</a> found that ryanodine receptors (RYRs; see <a href="/entry/180901">180901</a>) in muscle lysates prepared from muscle from a patient with congenital myopathy and the R466Q mutation showed reduced ryanodine binding compared with control tissue. Addition of wildtype zebrafish Sepn1 partially restored the binding capacity of diseased muscle lysates and fully restored the ability of human RYRs from diseased muscle lysates to respond to changes in the redox potential of the binding environment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18713863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0005" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, TRP453SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908186 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908186;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908186?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908186" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004750" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004750" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004750</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1358G-C transversion in the SEPN1 gene, resulting in a trp453-to-ser (W453S) substitution, that was found in compound heterozygous state in a patient with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>) by <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a>, see <a href="#0004">606210.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0006" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, 1-BP INS, 713A
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs368104077 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs368104077;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs368104077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs368104077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004751 OR RCV000277917 OR RCV001353048 OR RCV004757096" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004751, RCV000277917, RCV001353048, RCV004757096" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004751...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp insertion (c.713insA) in exon 5 of the SEPN1 gene, resulting in a frameshift (Asn238fs), that was found in compound heterozygous state in a French patient with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>) by <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a>, see <a href="#0004">606210.0004</a>. <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a> also identified a homozygous c.713insA mutation in another French patient (F5) with CMYO3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Villar-Quiles, R. N., von der Hagen, M., Metay, C., Gonzalez, V., Donkervoort, S., Bertini, E., Castiglioni, C., Chaigne, D., Colomer, J., Cuadrado, M. L., de Visser, M., Desguerre, I., and 26 others. <strong>The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series.</strong> Neurology 95: e1512-e1527, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32796131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32796131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32796131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32796131">Villar-Quiles et al. (2020)</a> stated that c.713dupA (c.713dupA, NM_020451.2) is a founder mutation in western Europe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32796131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0007" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, SEC462GLY
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908187 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908187;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004752" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004752" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004752</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Portuguese family in which 2 children had congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>), <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a> identified a homozygous c.1384T-G transversion in exon 10 of the SEPN1 gene, resulting in a sec462-to-gly (U462G) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0008" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, GLY315SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908188 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908188;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908188?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000004753 OR RCV000004754 OR RCV000082020 OR RCV000681664 OR RCV000778235 OR RCV003224794 OR RCV003993737" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000004753, RCV000004754, RCV000082020, RCV000681664, RCV000778235, RCV003224794, RCV003993737" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000004753...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 unrelated families with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>) from Belgium and the U.K., <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a> identified a homozygous c.943G-A transition in the SEPN1 gene, resulting in a gly315-to-ser (G315S) substitution. Haplotype analysis suggested a founder effect. A German patient with sporadic CMYO3 presented the same mutation in the compound heterozygous state with R466Q (<a href="#0004">606210.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Venance, S. L., Koopman, W. J., Miskie, B. A., Hegele, R. A., Hahn, A. F. <strong>Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.</strong> Neurology 64: 395-396, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668457</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149755.85666.DB" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668457">Venance et al. (2005)</a> identified a homozygous G315S mutation in a patient with CMYO3 who presented at age 26 years with cor pulmonale characterized by rapidly progressive respiratory and right heart failure with cough, orthopnea, and daytime sleepiness. Two sibs who were heterozygous carriers of the mutation had mild neck restriction. <a href="#16" class="mim-tip-reference" title="Venance, S. L., Koopman, W. J., Miskie, B. A., Hegele, R. A., Hahn, A. F. <strong>Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.</strong> Neurology 64: 395-396, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668457</a>] [<a href="https://doi.org/10.1212/01.WNL.0000149755.85666.DB" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15668457">Venance et al. (2005)</a> emphasized the importance of early nocturnal ventilatory assistance in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 patients from 2 unrelated families with CMYO3, <a href="#3" class="mim-tip-reference" title="Clarke, N. F., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J. I., Kornberg, A. J., Shield, L. K., North, K. N. <strong>SEPN1: associated with congenital fiber-type disproportion and insulin resistance.</strong> Ann. Neurol. 59: 546-552, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16365872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16365872</a>] [<a href="https://doi.org/10.1002/ana.20761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16365872">Clarke et al. (2006)</a> identified a homozygous G315S mutation. All 5 patients had abnormal glucose tolerance tests and showed biochemical abnormalities suggesting insulin resistance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16365872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Villar-Quiles, R. N., von der Hagen, M., Metay, C., Gonzalez, V., Donkervoort, S., Bertini, E., Castiglioni, C., Chaigne, D., Colomer, J., Cuadrado, M. L., de Visser, M., Desguerre, I., and 26 others. <strong>The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series.</strong> Neurology 95: e1512-e1527, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32796131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32796131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32796131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32796131">Villar-Quiles et al. (2020)</a> stated that G315S was a founder mutation in northern Europe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32796131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0009" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, 92-BP DEL, NT-19
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1557813850 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1557813850;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1557813850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1557813850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000413324 OR RCV000501710 OR RCV001060927" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000413324, RCV000501710, RCV001060927" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000413324...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected patients with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>) who came from a genetic isolate in northern Germany (<a href="#8" class="mim-tip-reference" title="Goebel, H. H., Lenard, H.-G., Langenbeck, U., Mehl, B. <strong>A form of congenital muscular dystrophy.</strong> Brain Dev. 2: 387-400, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7224095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7224095</a>] [<a href="https://doi.org/10.1016/s0387-7604(80)80052-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7224095">Goebel et al., 1980</a>), <a href="#5" class="mim-tip-reference" title="Ferreiro, A., Ceuterick-de Groote, C., Marks, J. J., Goemans, N., Schreiber, G., Hanefeld, F., Fardeau, M., Martin, J.-J., Goebel, H. H., Richard, P., Guicheney, P., Bonnemann, C. G. <strong>Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.</strong> Ann. Neurol. 55: 676-686, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122708</a>] [<a href="https://doi.org/10.1002/ana.20077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122708">Ferreiro et al. (2004)</a> identified a homozygous 92-bp deletion in the SEPN1 gene starting 19 bp upstream of exon 1 and including the first 73 bp of exon 1 (del92, -19/+73). The deletion caused loss of the translation starting codon. The parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15122708+7224095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 12-year-old boy (P6) with CMYO3, <a href="#3" class="mim-tip-reference" title="Clarke, N. F., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J. I., Kornberg, A. J., Shield, L. K., North, K. N. <strong>SEPN1: associated with congenital fiber-type disproportion and insulin resistance.</strong> Ann. Neurol. 59: 546-552, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16365872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16365872</a>] [<a href="https://doi.org/10.1002/ana.20761" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16365872">Clarke et al. (2006)</a> identified compound heterozygosity for c.-19_+73del92 and M1V (<a href="#0003">606210.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16365872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0010" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, HIS293ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs776738184 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs776738184;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs776738184?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs776738184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs776738184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000349806 OR RCV002520484" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000349806, RCV002520484" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000349806...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.878A-G transition in exon 7 of the SELENON gene, resulting in a his293-to-arg (H293R) substitution, that was found in compound heterozygous state in 2 sibs with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>) by <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a>, see <a href="#0004">606210.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0011" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, 5-BP INS, 7GGGCC
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1572226744 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1572226744;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1572226744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1572226744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000761458" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000761458" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000761458</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old Chinese girl (patient 1) with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>), <a href="#4" class="mim-tip-reference" title="Fan, Y., Xu, Z., Li, X., Gao, F., Guo, E., Chang, X., Wei, C., Zhang, C., Yu, Q., Que, C., Xiao, J., Yan, C., Wang, Z., Yuan, Y., Xiong, H. <strong>Novel SEPN1 Mutations in exon 1 are common in rigid spine with muscular dystrophy type 1 in Chinese patients.</strong> Front. Genet. 13: 825793, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35368679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35368679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35368679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3389/fgene.2022.825793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35368679">Fan et al. (2022)</a> identified compound heterozygous frameshift mutations in the SELENON gene: a 5-bp insertion (c.7_8insGGGCC) in exon 1, predicted to result in a frameshift and premature termination (Arg5GlyfsTer63) in the transmembrane domain, and a 1-bp deletion (c.1167delC; <a href="#0012">606210.0012</a>) in exon 9, also predicted to result in a frameshift and premature termination (His389HisfsTer20) in a noncytoplasmic domain. The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, were each inherited from an unaffected parent. Functional studies of the variants and studies of patient cells were not performed, but the authors suggested that both mutations would be subject to nonsense-mediated mRNA decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35368679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0012" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, 1-BP DEL, 1167C
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003223448" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003223448" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003223448</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1167delC mutation in exon 9 of the SELENON gene, predicted to result in a frameshift and premature termination (His389HisfsTer20), that was found in compound heterozygous state in a girl with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>) by <a href="#4" class="mim-tip-reference" title="Fan, Y., Xu, Z., Li, X., Gao, F., Guo, E., Chang, X., Wei, C., Zhang, C., Yu, Q., Que, C., Xiao, J., Yan, C., Wang, Z., Yuan, Y., Xiong, H. <strong>Novel SEPN1 Mutations in exon 1 are common in rigid spine with muscular dystrophy type 1 in Chinese patients.</strong> Front. Genet. 13: 825793, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35368679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35368679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35368679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.3389/fgene.2022.825793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35368679">Fan et al. (2022)</a>, see <a href="#0011">606210.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35368679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0013" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
SELENON, 22-BP DUP/10-BP INS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044621 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044621;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797044621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs797044621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000173501 OR RCV000820386" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000173501, RCV000820386" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000173501...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 patients from 2 unrelated consanguineous families of Moroccan (family 1809) and Algerian (family 13369) origin with congenital myopathy-3 with rigid spine (CMYO3; <a href="/entry/602771">602771</a>), <a href="#13" class="mim-tip-reference" title="Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P. <strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong> Nature Genet. 29: 17-18, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>] [<a href="https://doi.org/10.1038/ng713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528383">Moghadaszadeh et al. (2001)</a> identified a homozygous duplication/insertion (22dup10bp) in exon 1 of the SELENON gene, predicted to result in a frameshift at Gly7. Family 1809 had previously been reported by <a href="#12" class="mim-tip-reference" title="Moghadaszadeh, B., Desguerre, I., Topaloglu, H., Muntoni, F., Pavek, S., Sewry, C., Mayer, M., Fardeau, M., Tome, F. M. S., Guicheney, P. <strong>Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.</strong> Am. J. Hum. Genet. 62: 1439-1445, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585610</a>] [<a href="https://doi.org/10.1086/301882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9585610">Moghadaszadeh et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11528383+9585610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient, born of consanguineous German parents (family 1) with CMYO3, <a href="#6" class="mim-tip-reference" title="Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P. <strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong> Am. J. Hum. Genet. 71: 739-749, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/342719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12192640">Ferreiro et al. (2002)</a> identified a homozygous 22dup10bp mutation, which these authors stated resulted in a frameshift at Gln8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Bouman2022" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bouman, K., Gubbels, M., van den Heuvel, F. M. A., Groothuis, J. T., Erasmus, C. E., Nijveldt, R., Udink Ten Cate, F. E. A., Voermans, N. C.
|
|
<strong>Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.</strong>
|
|
Neuromusc. Disord. 32: 635-642, 2022.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35868898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35868898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35868898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.nmd.2022.06.004" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Castets2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Castets, P., Bertrand, A. T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A., Romero, N. B., Guicheney, P., Allamand, V.
|
|
<strong>Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.</strong>
|
|
Hum. Molec. Genet. 20: 694-704, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21131290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21131290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21131290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddq515" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Clarke2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Clarke, N. F., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J. I., Kornberg, A. J., Shield, L. K., North, K. N.
|
|
<strong>SEPN1: associated with congenital fiber-type disproportion and insulin resistance.</strong>
|
|
Ann. Neurol. 59: 546-552, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16365872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16365872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16365872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20761" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Fan2022" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fan, Y., Xu, Z., Li, X., Gao, F., Guo, E., Chang, X., Wei, C., Zhang, C., Yu, Q., Que, C., Xiao, J., Yan, C., Wang, Z., Yuan, Y., Xiong, H.
|
|
<strong>Novel SEPN1 Mutations in exon 1 are common in rigid spine with muscular dystrophy type 1 in Chinese patients.</strong>
|
|
Front. Genet. 13: 825793, 2022.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35368679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35368679</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35368679[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35368679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3389/fgene.2022.825793" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Ferreiro2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ferreiro, A., Ceuterick-de Groote, C., Marks, J. J., Goemans, N., Schreiber, G., Hanefeld, F., Fardeau, M., Martin, J.-J., Goebel, H. H., Richard, P., Guicheney, P., Bonnemann, C. G.
|
|
<strong>Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.</strong>
|
|
Ann. Neurol. 55: 676-686, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20077" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Ferreiro2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P.
|
|
<strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong>
|
|
Am. J. Hum. Genet. 71: 739-749, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12192640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12192640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12192640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12192640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/342719" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Ge1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ge, K., Xue, A., Bai, J., Wang, S.
|
|
<strong>Keshan disease-an endemic cardiomyopathy in China.</strong>
|
|
Virchows Arch. A Path. Anat. Histopath. 401: 1-15, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6412443/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6412443</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6412443" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00644785" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Goebel1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Goebel, H. H., Lenard, H.-G., Langenbeck, U., Mehl, B.
|
|
<strong>A form of congenital muscular dystrophy.</strong>
|
|
Brain Dev. 2: 387-400, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7224095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7224095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7224095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0387-7604(80)80052-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Gross2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 11/30/2016.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Jurynec2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jurynec, M. J., Xia, R., Mackrill, J. J., Gunther, D., Crawford, T., Flanigan, K. M., Abramson, J. J., Howard, M. T., Grunwald, D. J.
|
|
<strong>Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 12485-12490, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18713863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18713863</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18713863[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18713863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0806015105" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Lescure1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lescure, A., Gautheret, D., Carbon, P., Krol, A.
|
|
<strong>Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.</strong>
|
|
J. Biol. Chem. 274: 38147-38154, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10608886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10608886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10608886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.274.53.38147" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Moghadaszadeh1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Moghadaszadeh, B., Desguerre, I., Topaloglu, H., Muntoni, F., Pavek, S., Sewry, C., Mayer, M., Fardeau, M., Tome, F. M. S., Guicheney, P.
|
|
<strong>Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.</strong>
|
|
Am. J. Hum. Genet. 62: 1439-1445, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585610</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301882" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Moghadaszadeh2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P.
|
|
<strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong>
|
|
Nature Genet. 29: 17-18, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng713" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Petit2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Petit, N., Lescure, A., Rederstorff, M., Krol, A., Moghadaszadeh, B., Wewer, U. M., Guicheney, P.
|
|
<strong>Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.</strong>
|
|
Hum. Molec. Genet. 12: 1045-1053, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12700173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12700173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12700173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddg115" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Varone2019" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Varone, E., Pozzer, D., Di Modica, S., Chernorudskiy, A., Nogara, L., Baraldo, M., Cinquanta, M., Fumagalli, S., Villar-Quiles, R. N., De Simoni, M. G., Blaauw, B., Ferreiro, A., Zito, E.
|
|
<strong>SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.</strong>
|
|
Redox Biol. 24: 101176, 2019.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30921636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30921636</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30921636[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30921636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.redox.2019.101176" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Venance2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Venance, S. L., Koopman, W. J., Miskie, B. A., Hegele, R. A., Hahn, A. F.
|
|
<strong>Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.</strong>
|
|
Neurology 64: 395-396, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15668457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15668457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15668457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.WNL.0000149755.85666.DB" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Villar-Quiles2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Villar-Quiles, R. N., von der Hagen, M., Metay, C., Gonzalez, V., Donkervoort, S., Bertini, E., Castiglioni, C., Chaigne, D., Colomer, J., Cuadrado, M. L., de Visser, M., Desguerre, I., and 26 others.
|
|
<strong>The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series.</strong>
|
|
Neurology 95: e1512-e1527, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32796131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32796131</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32796131[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32796131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/WNL.0000000000010327" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 03/02/2023
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Matthew B. Gross - updated : 11/30/2016<br>Patricia A. Hartz - updated : 11/14/2014<br>Patricia A. Hartz - updated : 11/17/2009<br>Cassandra L. Kniffin - updated : 9/18/2007<br>Cassandra L. Kniffin - updated : 6/15/2005<br>George E. Tiller - updated : 12/17/2004<br>Cassandra L. Kniffin - updated : 7/22/2004<br>Victor A. McKusick - updated : 10/29/2002<br>Victor A. McKusick - updated : 8/23/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Paul J. Converse : 8/20/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 07/16/2024
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 04/20/2023<br>carol : 03/06/2023<br>ckniffin : 03/02/2023<br>carol : 10/27/2020<br>carol : 09/28/2020<br>carol : 12/01/2016<br>mgross : 11/30/2016<br>mgross : 11/18/2016<br>carol : 08/19/2015<br>mcolton : 8/4/2015<br>mgross : 11/19/2014<br>mcolton : 11/14/2014<br>terry : 10/14/2010<br>mgross : 11/17/2009<br>terry : 11/17/2009<br>wwang : 9/25/2007<br>ckniffin : 9/18/2007<br>ckniffin : 6/15/2005<br>tkritzer : 12/17/2004<br>carol : 7/23/2004<br>ckniffin : 7/22/2004<br>mgross : 11/7/2002<br>terry : 10/29/2002<br>terry : 6/27/2002<br>carol : 11/24/2001<br>mgross : 8/23/2001<br>mgross : 8/21/2001<br>mgross : 8/20/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 606210
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SELENOPROTEIN N; SELENON
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SEPN1<br />
|
|
SELN
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SELENON</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 240063002;
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 1p36.11
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:25,800,193-25,818,221 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
1p36.11
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital myopathy 3 with rigid spine
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
602771
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The SELENON gene encodes selenoprotein N, a transmembrane protein that senses endoplasmic reticulum (ER) calcium fluctuations and helps to regulate calcium levels within the cell. Selenoprotein N plays a role in redox homeostasis and human cell protection against oxidative damage and ER stress. SELENON is also involved in early embryonic development, cell proliferation, and regeneration, particularly of muscle satellite cells (Castets et al., 2011; summary by Bouman et al., 2022; summary by Fan et al., 2022). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Selenium deficiency can interfere with normal embryonic development and fertility or promote the occurrence of certain cancers and viral diseases. Selenocysteine, the major form of selenium in animals, is directly involved in the catalytic reaction of selenoproteins. Selenocysteine is encoded by an in-frame UGA codon. Avoidance of a translational stop requires the presence of a selenocysteine insertion sequence (SECIS), a hairpin conserved in the 3-prime untranslated region (UTR) of all selenoprotein mRNAs. By searching an EST database for sequences that can adopt a SECIS-like secondary structure, followed by glutathione peroxidase functional analysis, further database searching, and 5-prime RACE, Lescure et al. (1999) identified a partial cDNA encoding SEPN1, which they termed SELN. Sequence analysis detected a SECIS in the 3-prime UTR of SEPN1. Northern blot analysis revealed ubiquitous expression of a 4.5-kb SEPN1 transcript, with highest levels in pancreas, ovary, prostate, and spleen. Hemagglutinin-tagged SEPN1 was expressed as a 60-kD protein in the presence of a wildtype SECIS element but not a mutant SECIS element. Lescure et al. (1999) concluded that the 3-prime UTR is a repository of functional RNA motifs instrumental in posttranscriptional control. </p><p>By 5-prime RACE and RT-PCR analysis, Moghadaszadeh et al. (2001) characterized the full-length SEPN1 cDNA. They found that SEPN1 produces a 4.5-kb transcript with an open reading frame encoding a 590-amino acid protein. EST database searches and RT-PCR experiments predicted that there are 2 isoforms of SEPN1. Isoform 1 corresponds to the full-length transcript, whereas exon 3 is spliced out in isoform 2. Both transcripts were detected in skeletal muscle, brain, lung, and placenta, but isoform 2 was always predominant. The exon 3 sequence corresponds to an Alu cassette and contains a second in-frame selenocysteine codon. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Moghadaszadeh et al. (2001) determined that the SEPN1 gene contains 13 exons and spans 18.5 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By PAC analysis, Moghadaszadeh et al. (2001) mapped the SEPN1 gene to 1p36-p35, where the locus for rigid spine muscular dystrophy-1 (RSMD1; 602771) maps. </p><p>Gross (2016) mapped the SELENON gene to chromosome 1p36.11 based on an alignment of the SELENON sequence (GenBank BC015638) with the genomic sequence (GRCh38).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using polyclonal antibodies directed against SEPN1 and cDNA constructs encoding the 2 isoforms, Petit et al. (2003) showed that the main SEPN1 gene product corresponds to a 70-kD protein containing a single selenocysteine residue. Subcellular fractionation experiments and endoglycosidase H sensitivity indicated that SEPN1 is a glycoprotein localized within the endoplasmic reticulum (ER). Immunofluorescence analyses confirmed this subcellular localization, and GFP fusion experiments demonstrated the presence of an ER-addressing and -retention signal within the N terminus. SEPN1 was present at a high level in several human fetal tissues and at a lower level in adult tissues, including skeletal muscle. Its high expression in cultured myoblasts was also downregulated in differentiating myotubes, suggesting a role for SEPN1 in early development and in cell proliferation or regeneration. </p><p>Jurynec et al. (2008) found that the zebrafish ortholog of Sepn1 was required for development of the slow muscle fiber lineage. Downregulation of Sepn1 resulted in disorganized muscle myofibrils and prominent Z-band anomalies not seen in wildtype muscle. Ryr1a (see RYR1; 180901) and Ryr3 (180903) were also required for formation of normal-appearing slow muscle cells. Sepn1 stably associated with Ryr proteins and functioned as a modifier of Ryr calcium flux activity and redox responsiveness. </p><p>Using quantitative RT-PCR, Castets et al. (2011) found that expression of Sepn1 was low in normal mouse hindlimb and skeletal muscle satellite cells (SCs). Sepn1 was upregulated in SCs and SC-derived myoblasts following cardiotoxin-induced muscle injury. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 10 families with congenital myopathy-3 with rigid spine (CMYO3; 602771), Moghadaszadeh et al. (2001) identified homozygous or compound heterozygous mutations in the SEPN1 gene (see, e.g., 606210.0001; 606210.0002; 606210.0004; 606210.0010; 606210.0013). Three of the families (1809, T2, and E1) had previously been reported by Moghadaszadeh et al. (1998). There were 2 frameshift, 1 nonsense, and 3 missense mutations. The nonsense mutation (606210.0002) identified in a French family transformed the selenocysteine codon into a stop codon, preventing selenocysteine incorporation and leading to a shorter protein. The missense mutations changed residues that are conserved in vertebrates. Two of these mutated residues were clustered in 1 region, the third being in close proximity to the selenocysteine residue. The association between selenium deficiency and muscular dystrophy in livestock suggested a role for selenium in the pathophysiology of striated muscles. In humans, selenium deficiency is associated with a cardiomyopathy known as Keshan disease, reported from selenium-deficient areas of China (Ge et al., 1983). </p><p>In 17 patients from 12 unrelated families with CMYO3, Ferreiro et al. (2002) identified homozygous or compound heterozygous mutations in the SEPN1 gene (see, e.g., 606210.0003-606210.0008; 606210.0013). Analysis of 3 deltoid biopsy specimens from patients revealed a wide myopathologic variability, ranging from a dystrophic to a congenital myopathy pattern. A variable proportion of minicores was found in all samples. The authors concluded that CMYO3 and the most severe form of classic multiminicore disease are the same entity. </p><p>In 4 affected patients from the original German family with CMYO3 diagnosed as 'Mallory-body myopathy' (Goebel et al., 1980), Ferreiro et al. (2004) identified a homozygous 92-bp deletion in the SEPN1 gene (606210.0009). The parents were heterozygous for the mutation. Ferreiro et al. (2004) stated that the clinical features of Mallory-body desmin-related myopathy and SEPN-related myopathies (SEPN-RM) are indistinguishable, and suggested that the disorders are part of an SEPN-RM disease spectrum. </p><p>In 5 patients from 2 unrelated families with CMYO3, Clarke et al. (2006) identified a homozygous missense mutation in the SEPN1 gene (G315S; 606210.0008). All 5 patients had abnormal glucose tolerance tests and showed biochemical abnormalities suggesting insulin resistance. Three additional patients with CMYO3 were also found to carry biallelic mutations (see, e.g., 606210.0003 and 606210.0009). </p><p>Castets et al. (2011) found that muscle biopsies from patients with SEPN1-related myopathies showed drastically reduced numbers of satellite cells (SCs) with age compared with biopsies from control individuals or those with unrelated muscle diseases. Significantly reduced SCs could be detected in a patient as young as 3 years of age. </p><p>In 8 Chinese patients with CMYO3, Fan et al. (2022) identified compound heterozygous mutations in the SELENON gene (see, e.g., 606210.0011 and 606210.0012). The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, were inherited from the unaffected parents. Most of the mutations were frameshift mutations, predicted to be subject to nonsense-mediated mRNA decay. Missense mutations were located around or in the catalytic site. Seven of the 16 variants identified occurred in exon 1. There were no genotype/phenotype correlations. Functional studies of the variants and studies of patient cells were not performed. Fan et al. (2022) stated that excessive oxidation damage resulting from SELENON deficiency induces dysfunction and degradation of muscle fibers. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Villar-Quiles et al. (2020) reported genotype-phenotype correlations in a series of 101 patients with congenital myopathy and mutations in SEPN1. Overall, patients who were homozygous or compound heterozygous for 2 mutations predicted to cause an absence of SEPN1 protein (either due to loss of the start codon or nonsense-mediated decay) had more severe phenotypes. Three mutations in exon 1 (c.1A-G (606210.0003), c.-19_73del (606210.0009), and c.13_22dup) and a mutation in exon 6 (c.818G-A) were most commonly found in patients with a severe phenotype. Other mutations, e.g., c.943G-A (606210.0008) in exon 7, c.1315C-T in exon 10, and c.1446delC in exon 11, were often found in milder cases. Only missense mutations were identified in the selenoprotein N putative catalytic site; these were observed in 23 patients, 7 of whom were homozygous, and most of these patients had disease of moderate severity. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Castets et al. (2011) found that Sepn1 -/- mice were indistinguishable from wildtype mice at 10 months of age. However, 10-month-old Sepn1 -/- mice showed reduced numbers of skeletal muscle SCs compared with wildtype mice or Sepn1 -/- mice of younger ages. Sepn1 -/- muscle recovered mass and tetanic force nearly as well as wildtype muscle following a single injury. However, Sepn1 -/- mice showed a significant loss of regenerative capacity following a second injury, concomitant with drastically reduced numbers of SCs compared with uninjured Sepn1 -/- muscle and injured wildtype muscle. This depletion of the SC pool appeared to be due to enhanced SC proliferation and SC pool exhaustion in response to the first injury. </p><p>Varone et al. (2019) found abnormal glucose metabolism in 4 of 8 adult patients with CMYO3 confirmed by genetic analysis. Insulin resistance was only observed in patients with extremely low BMI. In vitro studies of murine C2C12 muscle cells showed that loss of Selenon resulted in abnormal ER and mitochondrial function and morphology. Lack of Selenon increased palmitate-inducted lipotoxicity as a result of fatty acid accumulation, which elicited ER stress and blunted insulin-dependent glucose uptake in muscle. Loss of Selenon in adult mice caused similar metabolic alterations, including glucose intolerance in response to a high-fat diet. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>13 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, GLY273GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908182,
|
|
|
|
|
|
|
|
ClinVar: RCV000004746
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 Iranian and 3 Turkish consanguineous families with congenital myopathy-3 with rigid spine (CMYO3; 602771), Moghadaszadeh et al. (2001) identified a homozygous c.817G-A transition in exon 6 of the SEPN1 gene, causing a gly273-to-glu (G273E) substitution at a highly conserved residue. Two of the families (E1 and T2) had previously been reported by Moghadaszadeh et al. (1998). </p><p>Villar-Quiles et al. (2020) stated that G273E is a founder mutation in Iran and Turkey. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, SEC462TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908183, rs587776597,
|
|
|
|
|
|
|
|
ClinVar: RCV000004747
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl, born of consanguineous French parents (family 14961), with congenital myopathy-3 with rigid spine (CMYO3; 602771), Moghadaszadeh et al. (2001) identified a homozygous c.1385G-A transition in exon 10 of the SEPN1 gene. The mutation changed the selenocysteine (sec) codon (TGA) into a stop codon (TAA), preventing selenocysteine incorporation and leading to a shorter protein. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, MET1VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908184,
|
|
|
|
|
|
gnomAD: rs121908184,
|
|
|
|
|
|
ClinVar: RCV000004748, RCV000482307, RCV002288464, RCV002504747
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 3 unrelated families of Italian, Belgian, and German origin with congenital myopathy-3 with rigid spine (CMYO3; 602771) with multiminicores on skeletal muscle biopsy, Ferreiro et al. (2002) identified a homozygous c.1A-G transition in the start codon of the SEPN1 gene, resulting in a met1-to-val (M1V) substitution. The family from German was consanguineous. Two children in the family from Italy were affected. The authors stated that M1V was the most common SEPN1 mutation in their study. </p><p>In a 12-year-old boy (P6) with CMYO3, Clarke et al. (2006) identified compound heterozygosity for M1V and a second deleterious mutation (c.-19_+73del92; 606210.0009). </p><p>In a series of 132 pediatric and adult patients with myopathy caused by mutation in the SEPN1 gene, Villar-Quiles et al. (2020) found that M1V was the most common mutation, identified in 15 unrelated families. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, ARG466GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908185,
|
|
|
|
|
|
gnomAD: rs121908185,
|
|
|
|
|
|
ClinVar: RCV000004749, RCV000413832, RCV000778977, RCV001195543
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Italian sibs (family E8) with congenital myopathy-3 with rigid spine (CMYO3; 602771), Moghadaszadeh et al. (2001) identified compound heterozygous missense mutations in the SEPN1 gen: a c.1397G-A transition in exon 11, resulting in an arg466-to-gln (R466Q) substitution, and a c.878A-G transition in exon 7, resulting in a his293-to-arg (H293R; 606210.0010) substitution. Both mutations occurred at conserved residues. </p><p>In a French patient (F12) with CMYO3, Ferreiro et al. (2002) identified the R466Q mutation in compound heterozygous state with a c.1358G-C transversion, resulting in a trp453-to-ser (W453S) substitution (606210.0005). Another French patient (F6) was compound heterozygous for R466Q and a 1-bp insertion (c.713insA) (606210.0006), resulting in a frameshift (Asn238fs). </p><p>Jurynec et al. (2008) found that ryanodine receptors (RYRs; see 180901) in muscle lysates prepared from muscle from a patient with congenital myopathy and the R466Q mutation showed reduced ryanodine binding compared with control tissue. Addition of wildtype zebrafish Sepn1 partially restored the binding capacity of diseased muscle lysates and fully restored the ability of human RYRs from diseased muscle lysates to respond to changes in the redox potential of the binding environment. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, TRP453SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908186,
|
|
|
|
|
|
gnomAD: rs121908186,
|
|
|
|
|
|
ClinVar: RCV000004750
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1358G-C transversion in the SEPN1 gene, resulting in a trp453-to-ser (W453S) substitution, that was found in compound heterozygous state in a patient with congenital myopathy-3 with rigid spine (CMYO3; 602771) by Ferreiro et al. (2002), see 606210.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, 1-BP INS, 713A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs368104077,
|
|
|
|
|
|
|
|
ClinVar: RCV000004751, RCV000277917, RCV001353048, RCV004757096
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1-bp insertion (c.713insA) in exon 5 of the SEPN1 gene, resulting in a frameshift (Asn238fs), that was found in compound heterozygous state in a French patient with congenital myopathy-3 with rigid spine (CMYO3; 602771) by Ferreiro et al. (2002), see 606210.0004. Ferreiro et al. (2002) also identified a homozygous c.713insA mutation in another French patient (F5) with CMYO3. </p><p>Villar-Quiles et al. (2020) stated that c.713dupA (c.713dupA, NM_020451.2) is a founder mutation in western Europe. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, SEC462GLY
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908187,
|
|
|
|
|
|
|
|
ClinVar: RCV000004752
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Portuguese family in which 2 children had congenital myopathy-3 with rigid spine (CMYO3; 602771), Ferreiro et al. (2002) identified a homozygous c.1384T-G transversion in exon 10 of the SEPN1 gene, resulting in a sec462-to-gly (U462G) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, GLY315SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908188,
|
|
|
|
|
|
gnomAD: rs121908188,
|
|
|
|
|
|
ClinVar: RCV000004753, RCV000004754, RCV000082020, RCV000681664, RCV000778235, RCV003224794, RCV003993737
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of 2 unrelated families with congenital myopathy-3 with rigid spine (CMYO3; 602771) from Belgium and the U.K., Ferreiro et al. (2002) identified a homozygous c.943G-A transition in the SEPN1 gene, resulting in a gly315-to-ser (G315S) substitution. Haplotype analysis suggested a founder effect. A German patient with sporadic CMYO3 presented the same mutation in the compound heterozygous state with R466Q (606210.0004). </p><p>Venance et al. (2005) identified a homozygous G315S mutation in a patient with CMYO3 who presented at age 26 years with cor pulmonale characterized by rapidly progressive respiratory and right heart failure with cough, orthopnea, and daytime sleepiness. Two sibs who were heterozygous carriers of the mutation had mild neck restriction. Venance et al. (2005) emphasized the importance of early nocturnal ventilatory assistance in these patients. </p><p>In 5 patients from 2 unrelated families with CMYO3, Clarke et al. (2006) identified a homozygous G315S mutation. All 5 patients had abnormal glucose tolerance tests and showed biochemical abnormalities suggesting insulin resistance. </p><p>Villar-Quiles et al. (2020) stated that G315S was a founder mutation in northern Europe. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, 92-BP DEL, NT-19
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1557813850,
|
|
|
|
|
|
|
|
ClinVar: RCV000413324, RCV000501710, RCV001060927
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 affected patients with congenital myopathy-3 with rigid spine (CMYO3; 602771) who came from a genetic isolate in northern Germany (Goebel et al., 1980), Ferreiro et al. (2004) identified a homozygous 92-bp deletion in the SEPN1 gene starting 19 bp upstream of exon 1 and including the first 73 bp of exon 1 (del92, -19/+73). The deletion caused loss of the translation starting codon. The parents were heterozygous for the mutation. </p><p>In a 12-year-old boy (P6) with CMYO3, Clarke et al. (2006) identified compound heterozygosity for c.-19_+73del92 and M1V (606210.0003). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, HIS293ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs776738184,
|
|
|
|
|
|
gnomAD: rs776738184,
|
|
|
|
|
|
ClinVar: RCV000349806, RCV002520484
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.878A-G transition in exon 7 of the SELENON gene, resulting in a his293-to-arg (H293R) substitution, that was found in compound heterozygous state in 2 sibs with congenital myopathy-3 with rigid spine (CMYO3; 602771) by Moghadaszadeh et al. (2001), see 606210.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, 5-BP INS, 7GGGCC
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1572226744,
|
|
|
|
|
|
|
|
ClinVar: RCV000761458
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 9-year-old Chinese girl (patient 1) with congenital myopathy-3 with rigid spine (CMYO3; 602771), Fan et al. (2022) identified compound heterozygous frameshift mutations in the SELENON gene: a 5-bp insertion (c.7_8insGGGCC) in exon 1, predicted to result in a frameshift and premature termination (Arg5GlyfsTer63) in the transmembrane domain, and a 1-bp deletion (c.1167delC; 606210.0012) in exon 9, also predicted to result in a frameshift and premature termination (His389HisfsTer20) in a noncytoplasmic domain. The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, were each inherited from an unaffected parent. Functional studies of the variants and studies of patient cells were not performed, but the authors suggested that both mutations would be subject to nonsense-mediated mRNA decay. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, 1-BP DEL, 1167C
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV003223448
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the c.1167delC mutation in exon 9 of the SELENON gene, predicted to result in a frameshift and premature termination (His389HisfsTer20), that was found in compound heterozygous state in a girl with congenital myopathy-3 with rigid spine (CMYO3; 602771) by Fan et al. (2022), see 606210.0011. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 CONGENITAL MYOPATHY 3 WITH RIGID SPINE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SELENON, 22-BP DUP/10-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs797044621,
|
|
|
|
|
|
|
|
ClinVar: RCV000173501, RCV000820386
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 patients from 2 unrelated consanguineous families of Moroccan (family 1809) and Algerian (family 13369) origin with congenital myopathy-3 with rigid spine (CMYO3; 602771), Moghadaszadeh et al. (2001) identified a homozygous duplication/insertion (22dup10bp) in exon 1 of the SELENON gene, predicted to result in a frameshift at Gly7. Family 1809 had previously been reported by Moghadaszadeh et al. (1998). </p><p>In a patient, born of consanguineous German parents (family 1) with CMYO3, Ferreiro et al. (2002) identified a homozygous 22dup10bp mutation, which these authors stated resulted in a frameshift at Gln8. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bouman, K., Gubbels, M., van den Heuvel, F. M. A., Groothuis, J. T., Erasmus, C. E., Nijveldt, R., Udink Ten Cate, F. E. A., Voermans, N. C.
|
|
<strong>Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.</strong>
|
|
Neuromusc. Disord. 32: 635-642, 2022.
|
|
|
|
|
|
[PubMed: 35868898]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.nmd.2022.06.004]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Castets, P., Bertrand, A. T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A., Romero, N. B., Guicheney, P., Allamand, V.
|
|
<strong>Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.</strong>
|
|
Hum. Molec. Genet. 20: 694-704, 2011.
|
|
|
|
|
|
[PubMed: 21131290]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddq515]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clarke, N. F., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J. I., Kornberg, A. J., Shield, L. K., North, K. N.
|
|
<strong>SEPN1: associated with congenital fiber-type disproportion and insulin resistance.</strong>
|
|
Ann. Neurol. 59: 546-552, 2006.
|
|
|
|
|
|
[PubMed: 16365872]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20761]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fan, Y., Xu, Z., Li, X., Gao, F., Guo, E., Chang, X., Wei, C., Zhang, C., Yu, Q., Que, C., Xiao, J., Yan, C., Wang, Z., Yuan, Y., Xiong, H.
|
|
<strong>Novel SEPN1 Mutations in exon 1 are common in rigid spine with muscular dystrophy type 1 in Chinese patients.</strong>
|
|
Front. Genet. 13: 825793, 2022.
|
|
|
|
|
|
[PubMed: 35368679]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3389/fgene.2022.825793]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferreiro, A., Ceuterick-de Groote, C., Marks, J. J., Goemans, N., Schreiber, G., Hanefeld, F., Fardeau, M., Martin, J.-J., Goebel, H. H., Richard, P., Guicheney, P., Bonnemann, C. G.
|
|
<strong>Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.</strong>
|
|
Ann. Neurol. 55: 676-686, 2004.
|
|
|
|
|
|
[PubMed: 15122708]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20077]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ferreiro, A., Quijano-Roy, S., Pichereau, C., Moghadaszadeh, B., Goemans, N., Bonnemann, C., Jungbluth, H., Straub, V., Villanova, M., Leroy, J.-P., Romero, N. B., Martin, J.-J., Muntoni, F., Voit, T., Estournet, B., Richard, P., Fardeau, M., Guicheney, P.
|
|
<strong>Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.</strong>
|
|
Am. J. Hum. Genet. 71: 739-749, 2002.
|
|
|
|
|
|
[PubMed: 12192640]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/342719]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ge, K., Xue, A., Bai, J., Wang, S.
|
|
<strong>Keshan disease-an endemic cardiomyopathy in China.</strong>
|
|
Virchows Arch. A Path. Anat. Histopath. 401: 1-15, 1983.
|
|
|
|
|
|
[PubMed: 6412443]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00644785]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goebel, H. H., Lenard, H.-G., Langenbeck, U., Mehl, B.
|
|
<strong>A form of congenital muscular dystrophy.</strong>
|
|
Brain Dev. 2: 387-400, 1980.
|
|
|
|
|
|
[PubMed: 7224095]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0387-7604(80)80052-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gross, M. B.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 11/30/2016.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jurynec, M. J., Xia, R., Mackrill, J. J., Gunther, D., Crawford, T., Flanigan, K. M., Abramson, J. J., Howard, M. T., Grunwald, D. J.
|
|
<strong>Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 12485-12490, 2008.
|
|
|
|
|
|
[PubMed: 18713863]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0806015105]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lescure, A., Gautheret, D., Carbon, P., Krol, A.
|
|
<strong>Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.</strong>
|
|
J. Biol. Chem. 274: 38147-38154, 1999.
|
|
|
|
|
|
[PubMed: 10608886]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.274.53.38147]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moghadaszadeh, B., Desguerre, I., Topaloglu, H., Muntoni, F., Pavek, S., Sewry, C., Mayer, M., Fardeau, M., Tome, F. M. S., Guicheney, P.
|
|
<strong>Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.</strong>
|
|
Am. J. Hum. Genet. 62: 1439-1445, 1998.
|
|
|
|
|
|
[PubMed: 9585610]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301882]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moghadaszadeh, B., Petit, N., Jaillard, C., Brockington, M., Roy, S. Q., Merlini, L., Romero, N., Estournet, B., Desguerre, I., Chaigne, D., Muntoni, F., Topaloglu, H., Guicheney, P.
|
|
<strong>Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.</strong>
|
|
Nature Genet. 29: 17-18, 2001.
|
|
|
|
|
|
[PubMed: 11528383]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng713]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Petit, N., Lescure, A., Rederstorff, M., Krol, A., Moghadaszadeh, B., Wewer, U. M., Guicheney, P.
|
|
<strong>Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.</strong>
|
|
Hum. Molec. Genet. 12: 1045-1053, 2003.
|
|
|
|
|
|
[PubMed: 12700173]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddg115]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Varone, E., Pozzer, D., Di Modica, S., Chernorudskiy, A., Nogara, L., Baraldo, M., Cinquanta, M., Fumagalli, S., Villar-Quiles, R. N., De Simoni, M. G., Blaauw, B., Ferreiro, A., Zito, E.
|
|
<strong>SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.</strong>
|
|
Redox Biol. 24: 101176, 2019.
|
|
|
|
|
|
[PubMed: 30921636]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.redox.2019.101176]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Venance, S. L., Koopman, W. J., Miskie, B. A., Hegele, R. A., Hahn, A. F.
|
|
<strong>Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.</strong>
|
|
Neurology 64: 395-396, 2005.
|
|
|
|
|
|
[PubMed: 15668457]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.WNL.0000149755.85666.DB]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Villar-Quiles, R. N., von der Hagen, M., Metay, C., Gonzalez, V., Donkervoort, S., Bertini, E., Castiglioni, C., Chaigne, D., Colomer, J., Cuadrado, M. L., de Visser, M., Desguerre, I., and 26 others.
|
|
<strong>The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series.</strong>
|
|
Neurology 95: e1512-e1527, 2020.
|
|
|
|
|
|
[PubMed: 32796131]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0000000000010327]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 03/02/2023<br>Matthew B. Gross - updated : 11/30/2016<br>Patricia A. Hartz - updated : 11/14/2014<br>Patricia A. Hartz - updated : 11/17/2009<br>Cassandra L. Kniffin - updated : 9/18/2007<br>Cassandra L. Kniffin - updated : 6/15/2005<br>George E. Tiller - updated : 12/17/2004<br>Cassandra L. Kniffin - updated : 7/22/2004<br>Victor A. McKusick - updated : 10/29/2002<br>Victor A. McKusick - updated : 8/23/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Paul J. Converse : 8/20/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 07/16/2024<br>carol : 04/20/2023<br>carol : 03/06/2023<br>ckniffin : 03/02/2023<br>carol : 10/27/2020<br>carol : 09/28/2020<br>carol : 12/01/2016<br>mgross : 11/30/2016<br>mgross : 11/18/2016<br>carol : 08/19/2015<br>mcolton : 8/4/2015<br>mgross : 11/19/2014<br>mcolton : 11/14/2014<br>terry : 10/14/2010<br>mgross : 11/17/2009<br>terry : 11/17/2009<br>wwang : 9/25/2007<br>ckniffin : 9/18/2007<br>ckniffin : 6/15/2005<br>tkritzer : 12/17/2004<br>carol : 7/23/2004<br>ckniffin : 7/22/2004<br>mgross : 11/7/2002<br>terry : 10/29/2002<br>terry : 6/27/2002<br>carol : 11/24/2001<br>mgross : 8/23/2001<br>mgross : 8/21/2001<br>mgross : 8/20/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 14, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|