3784 lines
314 KiB
Text
3784 lines
314 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
|
|
|
|
- #300500 - ALBINISM, OCULAR, TYPE I; OA1
|
|
|
|
|
|
- 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=300500"><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">#300500</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="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/300500"><strong>Clinical Synopsis</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="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cytogenetics">Cytogenetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#pathogenesis">Pathogenesis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#populationGenetics">Population Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" 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 in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=(ALBINISM, OCULAR, TYPE I) OR (GPR143)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=629&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK590568/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300500[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</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="collapsed 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 mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
|
|
<div id="mimLocusSpecificDBsFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="http://albinismdb.med.umn.edu/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Albinism Database</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/oa1mut.htm" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the OA1 Gene</a></div>
|
|
</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/disease/DOID:0050633" 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="http://www.informatics.jax.org/disease/300500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://wormbase.org/resources/disease/DOID:0050633" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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> 78642008<br />
|
|
|
|
|
|
<strong>ICD10CM:</strong> E70.310<br />
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 54<br />
|
|
|
|
|
|
<strong>DO:</strong> 0050633<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
300500
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
ALBINISM, OCULAR, TYPE I; OA1
|
|
|
|
</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">
|
|
NETTLESHIP-FALLS TYPE OCULAR ALBINISM
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<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>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/50?start=-3&limit=10&highlight=50">
|
|
Xp22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ocular albinism, type I, Nettleship-Falls type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300500"> 300500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</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>
|
|
<td>
|
|
<span class="mim-font">
|
|
GPR143
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300808"> 300808 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</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/300500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300500" 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>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Eyes </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Albino pupillary reflex<br /> - Depigmented fundus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007680</a>]</span><br /> - Prominent choroidal vessels<br /> - Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> - Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> - Impaired vision <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63102001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63102001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131182003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131182003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0547030&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0547030</a>, <a href="https://bioportal.bioontology.org/search?q=C3665347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665347</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Head </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Head nodding <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549240</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Skin </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal pigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4068894&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4068894</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Misc </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mosaic fundal pigmentation in carrier females<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Lab </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macromelanosomes on EM<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Inheritance </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- X-linked <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263934009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263934009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001417</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<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 id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because ocular albinism type I (OA1) is caused by mutation in the GPR143 gene (<a href="/entry/300808">300808</a>) on chromosome Xp22.</p><p>Isolated X-linked congenital nystagmus-6 (NYS6; <a href="/entry/300814">300814</a>) is an allelic disorder.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<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>Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by <a href="#41" class="mim-tip-reference" title="Xiao, X., Zhang, Q. <strong>Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.</strong> Am. J. Med. Genet. 149A: 1786-1788, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19610097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19610097</a>] [<a href="https://doi.org/10.1002/ajmg.a.32818" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19610097">Xiao and Zhang, 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19610097" 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="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In affected men the pupillary reflex is characteristic of albinism. The fundus is depigmented and the choroidal vessels stand out strikingly. Nystagmus, head nodding, and impaired vision also occur. Pigmentation is normal elsewhere than in the eye. In carrier females the fundus, especially in the periphery, shows a mosaic of pigmentation, as first recognized by <a href="#39" class="mim-tip-reference" title="Vogt, A. <strong>Die Iris: Albinismus solum bulbi. Atlas fur Spaltlampen-Mikroskopie. (3rd ed.)</strong> Stuttgart: Henke 1942."None>Vogt (1942)</a>. <a href="#20" class="mim-tip-reference" title="Lyon, M. F. <strong>Sex chromatin and gene action in the mammalian X-chromosome.</strong> Am. J. Hum. Genet. 14: 135-148, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14467629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14467629</a>]" pmid="14467629">Lyon (1962)</a> pointed out that the fundus finding in heterozygous females supports her theory of X chromosome inactivation. Nystagmus is an associated feature. In fact, the ocular albinism has been commented on only obliquely or not at all in some reports of X-linked nystagmus in families that almost certainly had ocular albinism. The family studied by <a href="#40" class="mim-tip-reference" title="Waardenburg, P. J., Van den Bosch, J. <strong>X-chromosomal ocular albinism in a Dutch family.</strong> Ann. Hum. Genet. 21: 101-122, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13373175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13373175</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1971.tb00270.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13373175">Waardenburg and Van den Bosch (1956)</a> was earlier reported by <a href="#11" class="mim-tip-reference" title="Engelhard, C. F. <strong>Eine Familie mit hereditaerem Nystagmus.</strong> Z. Ges. Neurol. Psychiat. 28: 319-338, 1915."None>Engelhard (1915)</a> as a family with hereditary nystagmus. One family studied by <a href="#12" class="mim-tip-reference" title="Fialkow, P. J., Giblett, E. R., Motulsky, A. G. <strong>Measurable linkage between ocular albinism and Xg.</strong> Am. J. Hum. Genet. 19: 63-69, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6019304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6019304</a>]" pmid="6019304">Fialkow et al. (1967)</a> had been reported by <a href="#18" class="mim-tip-reference" title="Lein, J. N., Stewart, C. T., Moll, F. C. <strong>Sex-linked hereditary nystagmus.</strong> Pediatrics 18: 214-217, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13349334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13349334</a>]" pmid="13349334">Lein et al. (1956)</a> as sex-linked nystagmus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13349334+13373175+14467629+6019304" 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>Fundus drawings of heterozygous carriers were provided by <a href="#13" class="mim-tip-reference" title="Francois, J., Deweer, J. P. <strong>Albinisme oculaire lie au sexe et alterations caracteristiques du fond d'oeil chez les femmes heterozygotes.</strong> Ophthalmologica 126: 209-221, 1953.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13120104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13120104</a>] [<a href="https://doi.org/10.1159/000301877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13120104">Francois and Deweer (1953)</a>, and by others. (See frontispiece, <a href="#21" class="mim-tip-reference" title="McKusick, V. A. <strong>On the X Chromosome of Man.</strong> Washington, D.C.: Am. Inst. Biol. Sci. (pub.) 1964."None>McKusick, 1964</a>.) Theoretically one should be able to count the number of pigmented spots and arrive at an estimate of the number of anlage cells present at the time of lyonization. Unfortunately, most of the available drawings are probably too crude to be relied on for this use. Furthermore, the drawings suggest appreciable variation in the number and size of pigmented areas, a finding to be expected from the considerations of the Lyon hypothesis. By electron microscopy, <a href="#25" class="mim-tip-reference" title="O'Donnell, F. E., Jr., Hambrick, G. W., Jr., Green, W. R., Iliff, W. J., Stone, D. L. <strong>X-linked ocular albinism: an oculocutaneous macromelanosomal disorder.</strong> Arch. Ophthal. 94: 1883-1892, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/985163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">985163</a>] [<a href="https://doi.org/10.1001/archopht.1976.03910040593001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="985163">O'Donnell et al. (1976)</a> showed that the skin as well as the eyes shows macromelanosomes in affected males and carrier females. <a href="#9" class="mim-tip-reference" title="Creel, D., O'Donnell, F. E., Jr., Witkop, C. J., Jr. <strong>Visual system anomalies in human ocular albinos.</strong> Science 201: 931-933, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/684419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">684419</a>] [<a href="https://doi.org/10.1126/science.684419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="684419">Creel et al. (1978)</a> demonstrated abnormal optic projections similar to those in total albinism. Hence, the abnormal decussation is a consequence of the lack of ocular pigment and not specific for any particular defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=684419+13120104+985163" 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="#38" class="mim-tip-reference" title="Schnur, R. E., Wick, P. A., Bailey, C., Rebbeck, T., Weleber, R. G., Wagstaff, J., Grix, A. W., Pagon, R. A., Hockey, A., Edwards, M. J. <strong>Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.</strong> Am. J. Hum. Genet. 55: 484-496, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7915878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7915878</a>]" pmid="7915878">Schnur et al. (1994)</a> studied 119 individuals from 11 families with OA1 with respect to their clinical phenotypes and their linkage genotypes. One of the families was a 4-generation Australian family in which 2 affected males and an obligatory carrier lacked the cutaneous melanin macroglobules (MMGs) considered typical of OA1; ocular features, on the other hand, were identical to those of Nettleship-Falls OA1. Furthermore, in this family, there was no evidence of linkage heterogeneity when compared with 6 families with biopsy-proven MMGs in at least 1 affected male. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7915878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Rosenberg, T., Schwartz, M. <strong>X-linked ocular albinism: prevalence and mutations--a national study.</strong> Europ. J. Hum. Genet. 6: 570-577, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887374</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887374">Rosenberg and Schwartz (1998)</a> determined phenotypic characteristics of 25 male patients from families in Denmark with identified mutations in the GPR143 gene. All patients had congenital nystagmus, and all but 1 had significant iris translucency. Only 1 patient had high myopia. Most of the remaining 24 patients (48 eyes) showed various degrees of hypermetropia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887374" 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 MRI, <a href="#35" class="mim-tip-reference" title="Schmitz, B., Schaefer, T., Krick, C. M., Reith, W., Backens, M., Kasmann-Kellner, B. <strong>Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging.</strong> Invest. Ophthal. Vis. Sci. 44: 16-21, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12506050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12506050</a>] [<a href="https://doi.org/10.1167/iovs.02-0156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12506050">Schmitz et al. (2003)</a> found that the size and configuration of the optic chiasm in humans with albinism are distinctly different from the chiasms of normal control subjects. These chiasmal changes reflect the atypical crossing of the optic fibers, irrespective of the causative gene mutation. Eight patients had tyrosinase gene-related OCA1 (<a href="/entry/203100">203100</a>), 4 patients had P gene (<a href="/entry/611409">611409</a>)-related OCA2 (<a href="/entry/203200">203200</a>), and 1 had ocular albinism; the albinism-causing mutation had not been identified in 4 other patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12506050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
|
|
<a href="#32" class="mim-tip-reference" title="Preising, M., Op de Laak, J.-P., Lorenz, B. <strong>Deletion in the OA1 gene in a family with congenital X linked nystagmus.</strong> Brit. J. Ophthal. 85: 1098-1103, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11520764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11520764</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11520764[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/bjo.85.9.1098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11520764">Preising et al. (2001)</a> reported a 3-generation family in which 3 affected males had variable features of ocular albinism due to a splice site mutation in the GPR143 gene (<a href="/entry/300808#0010">300808.0010</a>). The male proband was diagnosed with OA1 at age 3 months with typical clinical features, including congenital nystagmus, iris translucency, macular hypoplasia, fundus hypopigmentation, and normal pigmentation of skin and hair. Examination at age 4 years showed increased pigmentation of the iris and fundus and improved visual acuity. A 51-year-old maternal uncle also had congenital nystagmus, clear macular hypoplasia and stromal focal hypopigmentation of the iris, but no iris translucency or fundus hypopigmentation. Macromelanosomes were present on skin biopsy. A 79-year-old maternal relative had congenital nystagmus and high myopia with macular change, but no iris translucency. Two carrier females had mosaic pattern of hypopigmented retinal epithelium, consistent with a carrier status of ocular albinism. <a href="#32" class="mim-tip-reference" title="Preising, M., Op de Laak, J.-P., Lorenz, B. <strong>Deletion in the OA1 gene in a family with congenital X linked nystagmus.</strong> Brit. J. Ophthal. 85: 1098-1103, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11520764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11520764</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11520764[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/bjo.85.9.1098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11520764">Preising et al. (2001)</a> suggested that this mutation results in a hypomorphic allele that causes impaired membrane fusion of melanosomes and the plasma membrane. They proposed a model of OA1 in this family that allowed increase of pigmentation with age. Thus, postnatal normalization of the extracellular dopamine levels due to delayed distribution and membrane budding or fusion of melanosomes in melanocytes could result in increasing pigmentation and a seemingly variable phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11520764" 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="#41" class="mim-tip-reference" title="Xiao, X., Zhang, Q. <strong>Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.</strong> Am. J. Med. Genet. 149A: 1786-1788, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19610097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19610097</a>] [<a href="https://doi.org/10.1002/ajmg.a.32818" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19610097">Xiao and Zhang (2009)</a> studied a Chinese patient with ocular albinism, who had nystagmus since early childhood, without photophobia or night blindness. He was diagnosed with high myopia and amblyopia at 3 years of age. Ocular examination at age 8 years revealed high myopia and bilateral pendular nystagmus, and there was hyperpigmentation with tiny pigmentary nodules in the pupillary portion of the irides. The peripheral iris was brown without translucency. Fundus changes resembled those seen in high myopia; however, mild variegated pigmentary changes were observed in the midperiphery. Macular hypoplasia was confirmed by optical coherence tomography. The patient's mother had normal visual acuity without nystagmus or photophobia. She had iris hyperpigmentation in the pupillary portion, like her son, but had mild partial hypopigmentation in her peripheral iris. Mild hyperpigmentation was notable in her posterior fundus, and obvious mottled pigmentary deposits were present in the midperipheral retina. The patient's father had a normal iris and fundus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19610097" 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="cytogenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#22" class="mim-tip-reference" title="Meindl, A., Hosenfeld, D., Bruckl, W., Schuffenhauer, S., Jenderny, J., Bacskulin, A., Oppermann, H.-C., Swensson, O., Bouloux, P., Meitinger, T. <strong>Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.</strong> J. Med. Genet. 30: 838-842, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8230160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8230160</a>] [<a href="https://doi.org/10.1136/jmg.30.10.838" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8230160">Meindl et al. (1993)</a> described the clinical features of a patient with a large Xp22.3 deletion who had ocular albinism in addition to short stature, chondrodysplasia punctata, mental retardation, ichthyosis, and Kallmann syndrome (KAL; <a href="/entry/308700">308700</a>)--a total of 6 X-linked disorders. The deletion involved at least 10 Mb of DNA. Both the mother and the sister of the patient were carriers of the deletion that showed a number of traits seen in Turner syndrome. The diagnosis of ocular albinism was confirmed in the patient and his mother, who showed iris translucency, patches and streaks of hypopigmentation in the fundus, and macromelanosomes in epidermal melanocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8230160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#12" class="mim-tip-reference" title="Fialkow, P. J., Giblett, E. R., Motulsky, A. G. <strong>Measurable linkage between ocular albinism and Xg.</strong> Am. J. Hum. Genet. 19: 63-69, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6019304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6019304</a>]" pmid="6019304">Fialkow et al. (1967)</a> estimated that the recombination fraction for ocular albinism (OA) and the Xg blood group (<a href="/entry/314700">314700</a>) is about 0.17. This was confirmed by <a href="#30" class="mim-tip-reference" title="Pearce, W. G., Sanger, R., Race, R. R. <strong>Ocular albinism and Xg.</strong> Lancet 291: 1282-1283, 1968. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4172140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4172140</a>] [<a href="https://doi.org/10.1016/s0140-6736(68)92295-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4172140">Pearce et al. (1968)</a> in an English kindred. From a Newfoundland kindred, <a href="#29" class="mim-tip-reference" title="Pearce, W. G., Johnson, G. J., Sanger, R. <strong>Ocular albinism and Xg. (Letter)</strong> Lancet 297: 1072 only, 1971. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4102999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4102999</a>] [<a href="https://doi.org/10.1016/s0140-6736(71)91636-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4102999">Pearce et al. (1971)</a> presented data that reduce the estimate of the interval between Xg and ocular albinism from 17 to 15. Confirmation of the linkage with Xg and demonstration of stripe-like areas of retinal hypopigmentation in carriers were also provided. <a href="#17" class="mim-tip-reference" title="Kidd, J. R., Castiglione, C. M., Davies, K. E., Pakstis, A. J., Gusella, J., Sparkes, R. S., Pearson, P., Willard, H., Kidd, K. K. <strong>Mapping the locus for X-linked ocular albinism (OA). (Abstract)</strong> Am. J. Hum. Genet. 37: A161 only, 1985."None>Kidd et al. (1985)</a> found RFLP markers tightly linked to OA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4102999+4172140+6019304" 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="#37" class="mim-tip-reference" title="Schnur, R. E., Trask, B. J., van den Engh, G., Punnett, H. H., Kistenmacher, M., Tomeo, M. A., Naids, R. E., Nussbaum, R. L. <strong>An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.</strong> Am. J. Hum. Genet. 45: 706-720, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2573275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2573275</a>]" pmid="2573275">Schnur et al. (1989)</a> described the combination of ocular albinism and X-linked ichthyosis in 3 cytogenetically normal half brothers. A fourth half brother died at age 8 months of complications related to perinatal hypoxia and prematurity. Each of the 4 boys had a different father. No additional clinical features that have been described with other deletion syndromes in this area were present. The STS locus was entirely deleted on Southern blots in the affected males, but the MIC2X (<a href="/entry/313470">313470</a>) and several anonymous DNA loci were not deleted. The mother had patchy fundal hypopigmentation consistent with random X inactivation in an OA1 carrier. Flow cytometry analysis of cultured lymphoblasts detected a deletion of about 3.5 million bp or about 2% of the X chromosome. The observations with markers suggested that OA1 is located in the Xp22.3 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2573275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bergen, A. A. B., Samanns, C., Schuurman, E. J. M., van Osch, L., van Dorp, D. B., Pinckers, A. J. L. G., Bakker, E., Gal, A., van Ommen, G. J. B., Bleeker-Wagemakers, E. M. <strong>Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.</strong> Hum. Genet. 88: 162-166, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684563</a>] [<a href="https://doi.org/10.1007/BF00206065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1684563">Bergen et al. (1991)</a> presented information from a multipoint linkage analysis involving several DNA markers in the distal portion of Xp. <a href="#4" class="mim-tip-reference" title="Bergen, A. A. B., Schuurman, E. J. M., van den Born, L. I., Samanns, C., van Dorp, D. B., Pinckers, A. J. L. G., Bakker, E., van Ommen, G. J. B., Gal, A., Bleeker-Wagemakers, E. M. <strong>Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.</strong> Clin. Genet. 41: 135-138, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348665</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03649.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1348665">Bergen et al. (1992)</a> reported carrier detection in this disorder by use of markers that flank the OA1 locus. By multipoint linkage analysis in 16 British families, <a href="#8" class="mim-tip-reference" title="Charles, S. J., Moore, A. T., Yates, J. R. W. <strong>Genetic mapping of X linked ocular albinism: linkage analysis in British families.</strong> J. Med. Genet. 29: 552-554, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355560</a>] [<a href="https://doi.org/10.1136/jmg.29.8.552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1355560">Charles et al. (1992)</a> placed the OA1 locus between DXS85 proximally and DXS237 distally. They found that OA1 lies close to DXS143, but in the absence of recombinants the order of the loci could not be determined. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1684563+1348665+1355560" 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>From genetic linkage studies in the large Newfoundland family reported previously by <a href="#29" class="mim-tip-reference" title="Pearce, W. G., Johnson, G. J., Sanger, R. <strong>Ocular albinism and Xg. (Letter)</strong> Lancet 297: 1072 only, 1971. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4102999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4102999</a>] [<a href="https://doi.org/10.1016/s0140-6736(71)91636-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4102999">Pearce et al. (1971)</a>, <a href="#7" class="mim-tip-reference" title="Charles, S. J., Green, J. S., Moore, A. T., Barton, D. E., Yates, J. R. W. <strong>Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.</strong> Genomics 16: 259-261, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486368</a>] [<a href="https://doi.org/10.1006/geno.1993.1171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486368">Charles et al. (1993)</a> found evidence that the order is Xpter--XG--DXS237--DXS143--OA1--DXS85. <a href="#5" class="mim-tip-reference" title="Bergen, A. A. B., Zijp, P., Schuurman, E. J. M., Bleeker-Wagemakers, E. M., Apkarian, P., van Ommen, G.-J. B. <strong>Refinement of the localization of the X-linked ocular albinism gene.</strong> Genomics 16: 272-273, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486373</a>] [<a href="https://doi.org/10.1006/geno.1993.1176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8486373">Bergen et al. (1993)</a> found a similar order: Xpter--STS--DXS237--KAL--(OA1, DXS143)--DXS85--DXS16--Xcen. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4102999+8486373+8486368" 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 comparative deletion mapping, <a href="#22" class="mim-tip-reference" title="Meindl, A., Hosenfeld, D., Bruckl, W., Schuffenhauer, S., Jenderny, J., Bacskulin, A., Oppermann, H.-C., Swensson, O., Bouloux, P., Meitinger, T. <strong>Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.</strong> J. Med. Genet. 30: 838-842, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8230160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8230160</a>] [<a href="https://doi.org/10.1136/jmg.30.10.838" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8230160">Meindl et al. (1993)</a> located the OA1 gene proximal to DXS143 and distal to DXS85. Using a dinucleotide repeat polymorphism at the Kallmann locus to study 17 OA1 families, <a href="#42" class="mim-tip-reference" title="Zhang, Y., McMahon, R., Charles, S. J., Green, J. S., Moore, A. T., Barton, D. E., Yates, J. R. W. <strong>Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.</strong> J. Med. Genet. 30: 923-925, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8301646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8301646</a>] [<a href="https://doi.org/10.1136/jmg.30.11.923" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8301646">Zhang et al. (1993)</a> found close linkage between KAL and OA1 with a maximum lod score of 30.14 at a recombination fraction of 0.06. There was looser linkage to the Xg blood group. Both KAL and XG are distal to OA1. By deletion analysis, <a href="#6" class="mim-tip-reference" title="Bouloux, P.-M. G., Kirk, J., Munroe, P., Duke, V., Meindl, A., Hilson, A., Grant, D., Carter, N., Betts, D., Meitinger, T., Besser, G. M. <strong>Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus.</strong> Clin. Genet. 43: 169-173, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8330450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8330450</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb04442.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8330450">Bouloux et al. (1993)</a> concluded that the OA1 locus is located proximal to the STS locus (<a href="/entry/300747">300747</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8230160+8301646+8330450" 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 combined multipoint analysis (LINKMAP) in 11 families with OA1 and analysis of individual recombination events, <a href="#38" class="mim-tip-reference" title="Schnur, R. E., Wick, P. A., Bailey, C., Rebbeck, T., Weleber, R. G., Wagstaff, J., Grix, A. W., Pagon, R. A., Hockey, A., Edwards, M. J. <strong>Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.</strong> Am. J. Hum. Genet. 55: 484-496, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7915878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7915878</a>]" pmid="7915878">Schnur et al. (1994)</a> confirmed that the major locus for OA1 resides within the DXS85-DXS143 interval. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7915878" 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="Bassi, M. T., Schiaffino, M. V., Renieri, A., De Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A. A. B., Lewis, R. A., Ballabio, A. <strong>Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.</strong> Nature Genet. 10: 13-19, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647783</a>] [<a href="https://doi.org/10.1038/ng0595-13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647783">Bassi et al. (1995)</a> mapped the OA1 gene (GPR143) to chromosome Xp22.3-p22.2, approximately 20 kb on the telomeric side of the APXL gene (SHROOM2; <a href="/entry/300103">300103</a>). APXL spans 80 of the 110 kb of the OA1 critical region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647783" 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><a href="#2" class="mim-tip-reference" title="Bassi, M. T., Schiaffino, M. V., Renieri, A., De Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A. A. B., Lewis, R. A., Ballabio, A. <strong>Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.</strong> Nature Genet. 10: 13-19, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647783</a>] [<a href="https://doi.org/10.1038/ng0595-13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647783">Bassi et al. (1995)</a> identified 5 patients with OA1 who were carrying mutations within the GPR143 gene. Five intragenic deletions and a 2-bp insertion resulting in a premature stop codon (<a href="/entry/300808#0001">300808.0001</a>) were identified by DNA analysis of patients with OA1. Some of these deletions were not overlapping, making it highly unlikely that the mutation involved in OA1 is located in an intron of the gene. Fine molecular characterization of the gene in one of these patients demonstrated that the deletion removed part of a coding exon. The APXL gene was completely deleted in 1 patient with isolated OA1. However, an extensive search for point mutations was performed in the 4,848-bp coding region of APXL from 57 patients and no functionally relevant mutation was identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Schiaffino, M. V., Bassi, M. T., Galli, L., Renieri, A., Bruttini, M., De Nigris, F., Bergen, A. A. B., Charles, S. J., Yates, J. R. W., Meindl, A., Lewis, R. A., King, R. A., Ballabio, A. <strong>Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.</strong> Hum. Molec. Genet. 4: 2319-2325, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634705</a>] [<a href="https://doi.org/10.1093/hmg/4.12.2319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8634705">Schiaffino et al. (1995)</a> screened the entire OA1 coding region and 5-prime and 3-prime sequences for mutations and detected mutations in only one-third (21 of 60) of their patients with OA, including 2 frameshifts (e.g., <a href="/entry/300808#0002">300808.0002</a>) and a splice site mutation leading to truncated OA1 proteins, a deletion of a threonine codon at position 290, and 4 missense mutations (e.g., <a href="/entry/300808#0008">300808.0008</a>), 2 of which involve amino acids located within putative transmembrane domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8634705" 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="#36" class="mim-tip-reference" title="Schnur, R. E., Gao, M., Wick, P. A., Keller, M., Benke, P. J., Edwards, M. J., Grix, A. W., Hockey, A., Jung, J. H., Kidd, K. K., Kistenmacher, M., Levin, A. V., and 11 others. <strong>OA1 mutations and deletions in X-linked ocular albinism.</strong> Am. J. Hum. Genet. 62: 800-809, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529334</a>] [<a href="https://doi.org/10.1086/301776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529334">Schnur et al. (1998)</a> reported results of deletion and mutation screening of the full-length OA1 gene in 29 unrelated North American and Australian OA probands, including 5 with additional, nonocular phenotypic abnormalities (<a href="#38" class="mim-tip-reference" title="Schnur, R. E., Wick, P. A., Bailey, C., Rebbeck, T., Weleber, R. G., Wagstaff, J., Grix, A. W., Pagon, R. A., Hockey, A., Edwards, M. J. <strong>Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.</strong> Am. J. Hum. Genet. 55: 484-496, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7915878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7915878</a>]" pmid="7915878">Schnur et al., 1994</a>). They detected 13 intragenic gene deletions, including 3 of exon 1, 2 of exon 2, 2 of exon 4, and 6 others, which span exons 2 to 8. They also identified 8 novel missense mutations, which clustered within exons 1, 2, 3, and 6 in conserved and/or putative transmembrane domains of the protein. There was also a splice acceptor site mutation, a nonsense mutation, a single base deletion, and a previously reported 17-bp exon 1 deletion. All patients with nonocular phenotypic abnormalities had detectable mutations. All told, 26 (approximately 90%) of 29 probands had detectable alterations in the OA1 gene, thus confirming that OA1 is the major locus for X-linked OA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9529334+7915878" 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 Denmark, <a href="#33" class="mim-tip-reference" title="Rosenberg, T., Schwartz, M. <strong>X-linked ocular albinism: prevalence and mutations--a national study.</strong> Europ. J. Hum. Genet. 6: 570-577, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887374</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9887374">Rosenberg and Schwartz (1998)</a> performed a retrospective survey of 112 patients with ocular albinism identified in a national register, including 60 male patients with proven or presumed X-linked ocular albinism. Based on the birth year cohorts 1960 to 1989, a point prevalence for OA1 at birth of 1 in 60,000 live born was calculated. They identified 14 OA1 families in the Danish population and obtained DNA from affected persons in 9 families. Mutation analysis demonstrated 7 presumed pathogenic mutations in the 9 families: 5 single nucleotide substitutions predicting a change of conserved amino acids, including G35D (<a href="/entry/300808#0008">300808.0008</a>) and W133R (<a href="/entry/300808#0006">300808.0006</a>), when compared with the mouse OA1 homolog, 1 deletion leading to the skipping of exon 2, and 1 example of a single nucleotide substitution expected to affect the 5-prime splice site of intron 2 (<a href="/entry/300808#0007">300808.0007</a>). Subsequent genealogic investigations in the 3 families harboring the same mutation, W133R, disclosed that 2 of the 3 belonged to the same family. Clinical examination failed to identify any phenotype-genotype pattern except for the finding of a milder phenotype lacking iris translucency in the patient with the 5-prime splice site mutation of intron 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887374" 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="#26" class="mim-tip-reference" title="Oetting, W. S. <strong>New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene.</strong> Hum. Mutat. 19: 85-92, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11793467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11793467</a>] [<a href="https://doi.org/10.1002/humu.10034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11793467">Oetting (2002)</a> found that a total of 25 missense, 2 nonsense, 9 frameshift, and 5 splicing mutations in the OA1 gene had been reported in association with type I ocular albinism. There were also reports of several deletions of some or all exons of the OA1 gene with deletions of exon 2 resulting from unequal crossing-over, due to flanking Alu repeats. <a href="#26" class="mim-tip-reference" title="Oetting, W. S. <strong>New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene.</strong> Hum. Mutat. 19: 85-92, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11793467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11793467</a>] [<a href="https://doi.org/10.1002/humu.10034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11793467">Oetting (2002)</a> referred to an albinism database website. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11793467" 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 Chinese patient with ocular albinism and his carrier mother, who both demonstrated an unusual phenotype of iris hyperpigmentation without translucency, with apparent mosaic pigmentation of the fundus. <a href="#41" class="mim-tip-reference" title="Xiao, X., Zhang, Q. <strong>Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.</strong> Am. J. Med. Genet. 149A: 1786-1788, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19610097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19610097</a>] [<a href="https://doi.org/10.1002/ajmg.a.32818" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19610097">Xiao and Zhang (2009)</a> identified an intragenic deletion in the GPR143 gene (<a href="/entry/300808#0013">300808.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19610097" 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="pathogenesis" class="mim-anchor"></a>
|
|
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#10" class="mim-tip-reference" title="d'Addio, M., Pizzigoni, A., Bassi, M. T., Baschirotto, C., Valetti, C., Incerti, B., Clementi, M., De Luca, M., Ballabio, A., Schiaffino, M. V. <strong>Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.</strong> Hum. Molec. Genet. 9: 3011-3018, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115845</a>] [<a href="https://doi.org/10.1093/hmg/9.20.3011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11115845">D'Addio et al. (2000)</a> characterized 19 independent missense mutations with respect to processing and subcellular distribution on expression in COS-7 cells. Eleven of the 19 OA1 mutants (approximately 60%) were retained in the endoplasmic reticulum, showing defective intracellular transport and glycosylation, consistent with protein misfolding. The remaining 8 OA1 mutants (approximately 40%) displayed sorting and processing behaviors indistinguishable from those of the wildtype protein. Most of the latter mutations clustered within the second and third cytosolic loops, 2 regions that in canonical GPCRs are known to be critical for their downstream signaling, including G protein coupling and effector activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115845" 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="populationGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#1" class="mim-tip-reference" title="Bassi, M. T., Bergen, A. A. B., Bitoun, P., Charles, S. J., Clementi, M., Gosselin, R., Hurst, J., Lewis, R. A., Lorenz, B., Meitinger, T., Messiaen, L., Ramesar, R. S., Ballabio, A., Schiaffino, M. V. <strong>Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.</strong> Hum. Genet. 108: 51-54, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214907</a>] [<a href="https://doi.org/10.1007/s004390000440" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11214907">Bassi et al. (2001)</a> found a rather striking difference in the frequency of large deletions in the OA1 gene as the cause of ocular albinism type 1 in patients from Europe and North America: large deletions accounted for only 8% (3 of 36) of mutations identified in European OA1 patients; large deletions were found in 57% (8 of 14) of North American OA1 patients. The explanation for this distribution was unclear. The authors stated that their findings have major relevance for the molecular diagnosis of OA1 and need to be considered in any mutation testing program for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214907" 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="#15" class="mim-tip-reference" title="Incerti, B., Cortese, K., Pizzigoni, A., Surace, E. M., Varani, S., Coppola, M., Jeffery, G., Seeliger, M., Jaissle, G., Bennett, D. C., Marigo, V., Schiaffino, M. V., Tacchetti, C., Ballabio, A. <strong>Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.</strong> Hum. Molec. Genet. 9: 2781-2788, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11092754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11092754</a>] [<a href="https://doi.org/10.1093/hmg/9.19.2781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11092754">Incerti et al. (2000)</a> generated and characterized Oa1-deficient mice by gene targeting. The knockout males were viable, fertile, and phenotypically indistinguishable from the wildtype littermates. Ophthalmologic examination showed hypopigmentation of the ocular fundus in mutant animals compared with wildtype. Analysis of the retinofugal pathway revealed a reduction in the size of the uncrossed pathway, demonstrating a misrouting of the optic fibers at the chiasm, as observed in OA1 patients. Microscopic examination of the RPE showed the presence of giant melanosomes comparable with those described in OA1 patients. Ultrastructural analysis of the RPE cells suggested that the giant melanosomes may form by abnormal growth of single melanosomes rather than by the fusion of several organelles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11092754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Palmisano, I., Bagnato, P., Palmigiano, A., Innamorati, G., Rotondo, G., Altimare, D., Venturi, C., Sviderskaya, E. V., Piccirillo, R., Coppola, M., Marigo, V., Incerti, B., Ballabio, A., Surace, E. M., Tacchetti, C., Bennett, D. C., Schiaffino, M. V. <strong>The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.</strong> Hum. Molec. Genet. 17: 3487-3501, 2008. Note: Erratum: Hum. Molec. Genet. 26: 3028-3029, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18697795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18697795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18697795[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/10.1093/hmg/ddn241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18697795">Palmisano et al. (2008)</a> found reduced melanosome number and abnormal melanosome distribution toward the apical pole of Oa1 -/- RPE at embryonic stages that preceded the formation of macromelanosomes. In cultured -/- skin melanocytes, melanosomes were depleted from the perinuclear area and accumulated toward the cell periphery. In Oa1 -/- melanocytes, melanosomes interacted normally with the microtubule cytoskeleton and recruited factors required for actin-mediated melanosome capture; however, Oa1 -/- melanosomes appeared unable to release from the peripheral actin filaments. <a href="#27" class="mim-tip-reference" title="Palmisano, I., Bagnato, P., Palmigiano, A., Innamorati, G., Rotondo, G., Altimare, D., Venturi, C., Sviderskaya, E. V., Piccirillo, R., Coppola, M., Marigo, V., Incerti, B., Ballabio, A., Surace, E. M., Tacchetti, C., Bennett, D. C., Schiaffino, M. V. <strong>The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.</strong> Hum. Molec. Genet. 17: 3487-3501, 2008. Note: Erratum: Hum. Molec. Genet. 26: 3028-3029, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18697795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18697795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18697795[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/10.1093/hmg/ddn241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18697795">Palmisano et al. (2008)</a> concluded that OA1 plays a regulatory role in distributing melanosomes between microtubule- and actin-based cytoskeletal elements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18697795" 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="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Gillespie1961" class="mim-tip-reference" title="Gillespie, F. D. <strong>Ocular albinism with report of a family with female carriers.</strong> Arch. Ophthal. 66: 774-777, 1961.">Gillespie (1961)</a>; <a href="#Jaeger1981" class="mim-tip-reference" title="Jaeger, C., Jay, B. <strong>X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism.</strong> Hum. Genet. 56: 299-304, 1981.">Jaeger and Jay (1981)</a>; <a href="#Liu2007" class="mim-tip-reference" title="Liu, J. Y., Ren, X., Yang, X., Guo, T., Yao, Q., Li, L., Dai, X., Zhang, M., Wang, L., Liu, M., Wang, Q. K. <strong>Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.</strong> J. Hum. Genet. 52: 565-570, 2007.">Liu et al. (2007)</a>; <a href="#Negrelli1959" class="mim-tip-reference" title="Negrelli, B. C. <strong>L'albinisme oculaire lie au sexe dans le cadre du depistage des heterozygotes en ophtalmologie.</strong> J. Genet. Hum. 8: 108 only, 1959.">Negrelli
|
|
(1959)</a>; <a href="#O'Donnell1978" class="mim-tip-reference" title="O'Donnell, F. E., Jr., Green, W. R., Fleishman, J. A., Hambrick, G. W. <strong>X-linked ocular albinism in Blacks: ocular albinism cum pigmento.</strong> Arch. Ophthal. 96: 1189-1192, 1978.">O'Donnell et al. (1978)</a>; <a href="#Pearce1972" class="mim-tip-reference" title="Pearce, W. G., Johnson, G. J., Gillan, J. G. <strong>Nystagmus in a female carrier of ocular albinism.</strong> J. Med. Genet. 9: 126-128, 1972.">Pearce et al. (1972)</a>; <a href="#Pearce1976" class="mim-tip-reference" title="Pearce, W. G., Sanger, R. <strong>X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness.</strong> J. Med. Genet. 13: 319 only, 1976.">Pearce and
|
|
Sanger (1976)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Bassi2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bassi, M. T., Bergen, A. A. B., Bitoun, P., Charles, S. J., Clementi, M., Gosselin, R., Hurst, J., Lewis, R. A., Lorenz, B., Meitinger, T., Messiaen, L., Ramesar, R. S., Ballabio, A., Schiaffino, M. V.
|
|
<strong>Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.</strong>
|
|
Hum. Genet. 108: 51-54, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11214907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11214907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11214907" 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/s004390000440" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bassi1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bassi, M. T., Schiaffino, M. V., Renieri, A., De Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A. A. B., Lewis, R. A., Ballabio, A.
|
|
<strong>Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.</strong>
|
|
Nature Genet. 10: 13-19, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647783</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647783" 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/ng0595-13" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Bergen1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bergen, A. A. B., Samanns, C., Schuurman, E. J. M., van Osch, L., van Dorp, D. B., Pinckers, A. J. L. G., Bakker, E., Gal, A., van Ommen, G. J. B., Bleeker-Wagemakers, E. M.
|
|
<strong>Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.</strong>
|
|
Hum. Genet. 88: 162-166, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1684563" 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/BF00206065" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bergen1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bergen, A. A. B., Schuurman, E. J. M., van den Born, L. I., Samanns, C., van Dorp, D. B., Pinckers, A. J. L. G., Bakker, E., van Ommen, G. J. B., Gal, A., Bleeker-Wagemakers, E. M.
|
|
<strong>Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.</strong>
|
|
Clin. Genet. 41: 135-138, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1348665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03649.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Bergen1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bergen, A. A. B., Zijp, P., Schuurman, E. J. M., Bleeker-Wagemakers, E. M., Apkarian, P., van Ommen, G.-J. B.
|
|
<strong>Refinement of the localization of the X-linked ocular albinism gene.</strong>
|
|
Genomics 16: 272-273, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1993.1176" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Bouloux1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bouloux, P.-M. G., Kirk, J., Munroe, P., Duke, V., Meindl, A., Hilson, A., Grant, D., Carter, N., Betts, D., Meitinger, T., Besser, G. M.
|
|
<strong>Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus.</strong>
|
|
Clin. Genet. 43: 169-173, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8330450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8330450</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8330450" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1993.tb04442.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Charles1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Charles, S. J., Green, J. S., Moore, A. T., Barton, D. E., Yates, J. R. W.
|
|
<strong>Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.</strong>
|
|
Genomics 16: 259-261, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8486368/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8486368</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8486368" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1993.1171" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Charles1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Charles, S. J., Moore, A. T., Yates, J. R. W.
|
|
<strong>Genetic mapping of X linked ocular albinism: linkage analysis in British families.</strong>
|
|
J. Med. Genet. 29: 552-554, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1355560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1355560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1355560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.29.8.552" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Creel1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Creel, D., O'Donnell, F. E., Jr., Witkop, C. J., Jr.
|
|
<strong>Visual system anomalies in human ocular albinos.</strong>
|
|
Science 201: 931-933, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/684419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">684419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=684419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.684419" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="d'Addio2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
d'Addio, M., Pizzigoni, A., Bassi, M. T., Baschirotto, C., Valetti, C., Incerti, B., Clementi, M., De Luca, M., Ballabio, A., Schiaffino, M. V.
|
|
<strong>Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.</strong>
|
|
Hum. Molec. Genet. 9: 3011-3018, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115845" 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/9.20.3011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Engelhard1915" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Engelhard, C. F.
|
|
<strong>Eine Familie mit hereditaerem Nystagmus.</strong>
|
|
Z. Ges. Neurol. Psychiat. 28: 319-338, 1915.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Fialkow1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fialkow, P. J., Giblett, E. R., Motulsky, A. G.
|
|
<strong>Measurable linkage between ocular albinism and Xg.</strong>
|
|
Am. J. Hum. Genet. 19: 63-69, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6019304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6019304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6019304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Francois1953" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Francois, J., Deweer, J. P.
|
|
<strong>Albinisme oculaire lie au sexe et alterations caracteristiques du fond d'oeil chez les femmes heterozygotes.</strong>
|
|
Ophthalmologica 126: 209-221, 1953.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13120104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13120104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13120104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000301877" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Gillespie1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gillespie, F. D.
|
|
<strong>Ocular albinism with report of a family with female carriers.</strong>
|
|
Arch. Ophthal. 66: 774-777, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13898629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13898629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13898629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1961.00960010776003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Incerti2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Incerti, B., Cortese, K., Pizzigoni, A., Surace, E. M., Varani, S., Coppola, M., Jeffery, G., Seeliger, M., Jaissle, G., Bennett, D. C., Marigo, V., Schiaffino, M. V., Tacchetti, C., Ballabio, A.
|
|
<strong>Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.</strong>
|
|
Hum. Molec. Genet. 9: 2781-2788, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11092754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11092754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11092754" 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/9.19.2781" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Jaeger1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jaeger, C., Jay, B.
|
|
<strong>X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism.</strong>
|
|
Hum. Genet. 56: 299-304, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7239514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7239514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7239514" 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/BF00274683" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Kidd1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kidd, J. R., Castiglione, C. M., Davies, K. E., Pakstis, A. J., Gusella, J., Sparkes, R. S., Pearson, P., Willard, H., Kidd, K. K.
|
|
<strong>Mapping the locus for X-linked ocular albinism (OA). (Abstract)</strong>
|
|
Am. J. Hum. Genet. 37: A161 only, 1985.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Lein1956" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lein, J. N., Stewart, C. T., Moll, F. C.
|
|
<strong>Sex-linked hereditary nystagmus.</strong>
|
|
Pediatrics 18: 214-217, 1956.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13349334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13349334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13349334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Liu2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, J. Y., Ren, X., Yang, X., Guo, T., Yao, Q., Li, L., Dai, X., Zhang, M., Wang, L., Liu, M., Wang, Q. K.
|
|
<strong>Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.</strong>
|
|
J. Hum. Genet. 52: 565-570, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17516023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17516023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17516023" 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/s10038-007-0152-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Lyon1962" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lyon, M. F.
|
|
<strong>Sex chromatin and gene action in the mammalian X-chromosome.</strong>
|
|
Am. J. Hum. Genet. 14: 135-148, 1962.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14467629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14467629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14467629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="McKusick1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>On the X Chromosome of Man.</strong>
|
|
Washington, D.C.: Am. Inst. Biol. Sci. (pub.) 1964.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Meindl1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meindl, A., Hosenfeld, D., Bruckl, W., Schuffenhauer, S., Jenderny, J., Bacskulin, A., Oppermann, H.-C., Swensson, O., Bouloux, P., Meitinger, T.
|
|
<strong>Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.</strong>
|
|
J. Med. Genet. 30: 838-842, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8230160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8230160</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8230160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.30.10.838" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Negrelli1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Negrelli, B. C.
|
|
<strong>L'albinisme oculaire lie au sexe dans le cadre du depistage des heterozygotes en ophtalmologie.</strong>
|
|
J. Genet. Hum. 8: 108 only, 1959.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13812459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13812459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13812459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="O'Donnell1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Donnell, F. E., Jr., Green, W. R., Fleishman, J. A., Hambrick, G. W.
|
|
<strong>X-linked ocular albinism in Blacks: ocular albinism cum pigmento.</strong>
|
|
Arch. Ophthal. 96: 1189-1192, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/666626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">666626</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=666626" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1978.03910060023005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="O'Donnell1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Donnell, F. E., Jr., Hambrick, G. W., Jr., Green, W. R., Iliff, W. J., Stone, D. L.
|
|
<strong>X-linked ocular albinism: an oculocutaneous macromelanosomal disorder.</strong>
|
|
Arch. Ophthal. 94: 1883-1892, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/985163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">985163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=985163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1976.03910040593001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Oetting2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Oetting, W. S.
|
|
<strong>New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene.</strong>
|
|
Hum. Mutat. 19: 85-92, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11793467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11793467</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11793467" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.10034" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Palmisano2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Palmisano, I., Bagnato, P., Palmigiano, A., Innamorati, G., Rotondo, G., Altimare, D., Venturi, C., Sviderskaya, E. V., Piccirillo, R., Coppola, M., Marigo, V., Incerti, B., Ballabio, A., Surace, E. M., Tacchetti, C., Bennett, D. C., Schiaffino, M. V.
|
|
<strong>The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.</strong>
|
|
Hum. Molec. Genet. 17: 3487-3501, 2008. Note: Erratum: Hum. Molec. Genet. 26: 3028-3029, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18697795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18697795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18697795[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=18697795" 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/ddn241" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Pearce1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pearce, W. G., Johnson, G. J., Gillan, J. G.
|
|
<strong>Nystagmus in a female carrier of ocular albinism.</strong>
|
|
J. Med. Genet. 9: 126-128, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5025477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5025477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5025477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.9.1.126" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Pearce1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pearce, W. G., Johnson, G. J., Sanger, R.
|
|
<strong>Ocular albinism and Xg. (Letter)</strong>
|
|
Lancet 297: 1072 only, 1971. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4102999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4102999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4102999" 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/s0140-6736(71)91636-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Pearce1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pearce, W. G., Sanger, R., Race, R. R.
|
|
<strong>Ocular albinism and Xg.</strong>
|
|
Lancet 291: 1282-1283, 1968. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4172140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4172140</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4172140" 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/s0140-6736(68)92295-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Pearce1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pearce, W. G., Sanger, R.
|
|
<strong>X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness.</strong>
|
|
J. Med. Genet. 13: 319 only, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1085370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1085370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1085370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.13.4.319" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Preising2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Preising, M., Op de Laak, J.-P., Lorenz, B.
|
|
<strong>Deletion in the OA1 gene in a family with congenital X linked nystagmus.</strong>
|
|
Brit. J. Ophthal. 85: 1098-1103, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11520764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11520764</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11520764[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=11520764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/bjo.85.9.1098" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Rosenberg1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rosenberg, T., Schwartz, M.
|
|
<strong>X-linked ocular albinism: prevalence and mutations--a national study.</strong>
|
|
Europ. J. Hum. Genet. 6: 570-577, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9887374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9887374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9887374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200226" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Schiaffino1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schiaffino, M. V., Bassi, M. T., Galli, L., Renieri, A., Bruttini, M., De Nigris, F., Bergen, A. A. B., Charles, S. J., Yates, J. R. W., Meindl, A., Lewis, R. A., King, R. A., Ballabio, A.
|
|
<strong>Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.</strong>
|
|
Hum. Molec. Genet. 4: 2319-2325, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8634705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8634705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8634705" 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/4.12.2319" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Schmitz2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schmitz, B., Schaefer, T., Krick, C. M., Reith, W., Backens, M., Kasmann-Kellner, B.
|
|
<strong>Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging.</strong>
|
|
Invest. Ophthal. Vis. Sci. 44: 16-21, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12506050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12506050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12506050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.02-0156" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Schnur1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schnur, R. E., Gao, M., Wick, P. A., Keller, M., Benke, P. J., Edwards, M. J., Grix, A. W., Hockey, A., Jung, J. H., Kidd, K. K., Kistenmacher, M., Levin, A. V., and 11 others.
|
|
<strong>OA1 mutations and deletions in X-linked ocular albinism.</strong>
|
|
Am. J. Hum. Genet. 62: 800-809, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/301776" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Schnur1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schnur, R. E., Trask, B. J., van den Engh, G., Punnett, H. H., Kistenmacher, M., Tomeo, M. A., Naids, R. E., Nussbaum, R. L.
|
|
<strong>An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.</strong>
|
|
Am. J. Hum. Genet. 45: 706-720, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2573275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2573275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2573275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Schnur1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schnur, R. E., Wick, P. A., Bailey, C., Rebbeck, T., Weleber, R. G., Wagstaff, J., Grix, A. W., Pagon, R. A., Hockey, A., Edwards, M. J.
|
|
<strong>Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.</strong>
|
|
Am. J. Hum. Genet. 55: 484-496, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7915878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7915878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7915878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Vogt1942" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vogt, A.
|
|
<strong>Die Iris: Albinismus solum bulbi. Atlas fur Spaltlampen-Mikroskopie. (3rd ed.)</strong>
|
|
Stuttgart: Henke 1942.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Waardenburg1956" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Waardenburg, P. J., Van den Bosch, J.
|
|
<strong>X-chromosomal ocular albinism in a Dutch family.</strong>
|
|
Ann. Hum. Genet. 21: 101-122, 1956.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13373175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13373175</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13373175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-1809.1971.tb00270.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Xiao2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Xiao, X., Zhang, Q.
|
|
<strong>Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.</strong>
|
|
Am. J. Med. Genet. 149A: 1786-1788, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19610097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19610097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19610097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.32818" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Zhang1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zhang, Y., McMahon, R., Charles, S. J., Green, J. S., Moore, A. T., Barton, D. E., Yates, J. R. W.
|
|
<strong>Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.</strong>
|
|
J. Med. Genet. 30: 923-925, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8301646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8301646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8301646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.30.11.923" 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">
|
|
Marla J. F. O'Neill - updated : 6/10/2011
|
|
</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">
|
|
Cassandra L. Kniffin - updated : 1/15/2010<br>Patricia A. Hartz - updated : 11/3/2009<br>Marla J. F. O'Neill - updated : 6/3/2009<br>Patricia A. Hartz - updated : 11/11/2005<br>Jane Kelly - updated : 3/19/2003<br>Victor A. McKusick - updated : 2/21/2002<br>George E. Tiller - updated : 3/5/2001<br>George E. Tiller - updated : 2/6/2001<br>Victor A. McKusick - updated : 1/31/2001<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 3/17/1999<br>Victor A. McKusick - updated : 5/13/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 12/13/2022
|
|
</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 : 12/09/2022<br>carol : 09/27/2018<br>carol : 10/17/2016<br>carol : 07/09/2016<br>carol : 5/2/2016<br>carol : 4/8/2013<br>wwang : 6/16/2011<br>terry : 6/10/2011<br>carol : 5/4/2010<br>ckniffin : 1/15/2010<br>ckniffin : 1/15/2010<br>mgross : 11/9/2009<br>mgross : 11/9/2009<br>terry : 11/3/2009<br>carol : 6/25/2009<br>wwang : 6/3/2009<br>terry : 3/27/2009<br>carol : 10/31/2008<br>carol : 10/9/2008<br>carol : 9/12/2007<br>carol : 9/6/2007<br>carol : 9/6/2007<br>carol : 8/14/2006<br>mgross : 12/6/2005<br>terry : 11/11/2005<br>carol : 6/25/2004<br>carol : 6/25/2004<br>terry : 6/2/2004<br>alopez : 3/17/2004<br>alopez : 11/21/2003<br>alopez : 11/6/2003<br>carol : 9/9/2003<br>cwells : 3/19/2003<br>cwells : 3/13/2002<br>cwells : 2/22/2002<br>cwells : 2/22/2002<br>terry : 2/21/2002<br>cwells : 3/6/2001<br>cwells : 3/5/2001<br>cwells : 3/2/2001<br>carol : 2/26/2001<br>cwells : 2/6/2001<br>cwells : 2/5/2001<br>mcapotos : 2/2/2001<br>mcapotos : 2/2/2001<br>terry : 1/31/2001<br>alopez : 12/7/1999<br>alopez : 8/31/1999<br>carol : 8/31/1999<br>terry : 3/17/1999<br>dholmes : 7/2/1998<br>alopez : 5/19/1998<br>terry : 5/13/1998<br>joanna : 10/22/1997<br>terry : 11/6/1996<br>terry : 10/30/1996<br>mark : 9/25/1996<br>terry : 9/11/1996<br>mark : 6/1/1995<br>carol : 11/9/1994<br>davew : 7/6/1994<br>warfield : 3/11/1994<br>mimadm : 2/27/1994<br>carol : 12/20/1993
|
|
</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> 300500
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
ALBINISM, OCULAR, TYPE I; OA1
|
|
|
|
</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">
|
|
NETTLESHIP-FALLS TYPE OCULAR ALBINISM
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 78642008;
|
|
|
|
|
|
<strong>ICD10CM:</strong> E70.310;
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 54;
|
|
|
|
|
|
<strong>DO:</strong> 0050633;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene 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>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Xp22.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ocular albinism, type I, Nettleship-Falls type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300500
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
GPR143
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
300808
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because ocular albinism type I (OA1) is caused by mutation in the GPR143 gene (300808) on chromosome Xp22.</p><p>Isolated X-linked congenital nystagmus-6 (NYS6; 300814) is an allelic disorder.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus' (summary by Xiao and Zhang, 2009). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In affected men the pupillary reflex is characteristic of albinism. The fundus is depigmented and the choroidal vessels stand out strikingly. Nystagmus, head nodding, and impaired vision also occur. Pigmentation is normal elsewhere than in the eye. In carrier females the fundus, especially in the periphery, shows a mosaic of pigmentation, as first recognized by Vogt (1942). Lyon (1962) pointed out that the fundus finding in heterozygous females supports her theory of X chromosome inactivation. Nystagmus is an associated feature. In fact, the ocular albinism has been commented on only obliquely or not at all in some reports of X-linked nystagmus in families that almost certainly had ocular albinism. The family studied by Waardenburg and Van den Bosch (1956) was earlier reported by Engelhard (1915) as a family with hereditary nystagmus. One family studied by Fialkow et al. (1967) had been reported by Lein et al. (1956) as sex-linked nystagmus. </p><p>Fundus drawings of heterozygous carriers were provided by Francois and Deweer (1953), and by others. (See frontispiece, McKusick, 1964.) Theoretically one should be able to count the number of pigmented spots and arrive at an estimate of the number of anlage cells present at the time of lyonization. Unfortunately, most of the available drawings are probably too crude to be relied on for this use. Furthermore, the drawings suggest appreciable variation in the number and size of pigmented areas, a finding to be expected from the considerations of the Lyon hypothesis. By electron microscopy, O'Donnell et al. (1976) showed that the skin as well as the eyes shows macromelanosomes in affected males and carrier females. Creel et al. (1978) demonstrated abnormal optic projections similar to those in total albinism. Hence, the abnormal decussation is a consequence of the lack of ocular pigment and not specific for any particular defect. </p><p>Schnur et al. (1994) studied 119 individuals from 11 families with OA1 with respect to their clinical phenotypes and their linkage genotypes. One of the families was a 4-generation Australian family in which 2 affected males and an obligatory carrier lacked the cutaneous melanin macroglobules (MMGs) considered typical of OA1; ocular features, on the other hand, were identical to those of Nettleship-Falls OA1. Furthermore, in this family, there was no evidence of linkage heterogeneity when compared with 6 families with biopsy-proven MMGs in at least 1 affected male. </p><p>Rosenberg and Schwartz (1998) determined phenotypic characteristics of 25 male patients from families in Denmark with identified mutations in the GPR143 gene. All patients had congenital nystagmus, and all but 1 had significant iris translucency. Only 1 patient had high myopia. Most of the remaining 24 patients (48 eyes) showed various degrees of hypermetropia. </p><p>Using MRI, Schmitz et al. (2003) found that the size and configuration of the optic chiasm in humans with albinism are distinctly different from the chiasms of normal control subjects. These chiasmal changes reflect the atypical crossing of the optic fibers, irrespective of the causative gene mutation. Eight patients had tyrosinase gene-related OCA1 (203100), 4 patients had P gene (611409)-related OCA2 (203200), and 1 had ocular albinism; the albinism-causing mutation had not been identified in 4 other patients. </p><p><strong><em>Clinical Variability</em></strong></p><p>
|
|
Preising et al. (2001) reported a 3-generation family in which 3 affected males had variable features of ocular albinism due to a splice site mutation in the GPR143 gene (300808.0010). The male proband was diagnosed with OA1 at age 3 months with typical clinical features, including congenital nystagmus, iris translucency, macular hypoplasia, fundus hypopigmentation, and normal pigmentation of skin and hair. Examination at age 4 years showed increased pigmentation of the iris and fundus and improved visual acuity. A 51-year-old maternal uncle also had congenital nystagmus, clear macular hypoplasia and stromal focal hypopigmentation of the iris, but no iris translucency or fundus hypopigmentation. Macromelanosomes were present on skin biopsy. A 79-year-old maternal relative had congenital nystagmus and high myopia with macular change, but no iris translucency. Two carrier females had mosaic pattern of hypopigmented retinal epithelium, consistent with a carrier status of ocular albinism. Preising et al. (2001) suggested that this mutation results in a hypomorphic allele that causes impaired membrane fusion of melanosomes and the plasma membrane. They proposed a model of OA1 in this family that allowed increase of pigmentation with age. Thus, postnatal normalization of the extracellular dopamine levels due to delayed distribution and membrane budding or fusion of melanosomes in melanocytes could result in increasing pigmentation and a seemingly variable phenotype. </p><p>Xiao and Zhang (2009) studied a Chinese patient with ocular albinism, who had nystagmus since early childhood, without photophobia or night blindness. He was diagnosed with high myopia and amblyopia at 3 years of age. Ocular examination at age 8 years revealed high myopia and bilateral pendular nystagmus, and there was hyperpigmentation with tiny pigmentary nodules in the pupillary portion of the irides. The peripheral iris was brown without translucency. Fundus changes resembled those seen in high myopia; however, mild variegated pigmentary changes were observed in the midperiphery. Macular hypoplasia was confirmed by optical coherence tomography. The patient's mother had normal visual acuity without nystagmus or photophobia. She had iris hyperpigmentation in the pupillary portion, like her son, but had mild partial hypopigmentation in her peripheral iris. Mild hyperpigmentation was notable in her posterior fundus, and obvious mottled pigmentary deposits were present in the midperipheral retina. The patient's father had a normal iris and fundus. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Meindl et al. (1993) described the clinical features of a patient with a large Xp22.3 deletion who had ocular albinism in addition to short stature, chondrodysplasia punctata, mental retardation, ichthyosis, and Kallmann syndrome (KAL; 308700)--a total of 6 X-linked disorders. The deletion involved at least 10 Mb of DNA. Both the mother and the sister of the patient were carriers of the deletion that showed a number of traits seen in Turner syndrome. The diagnosis of ocular albinism was confirmed in the patient and his mother, who showed iris translucency, patches and streaks of hypopigmentation in the fundus, and macromelanosomes in epidermal melanocytes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Fialkow et al. (1967) estimated that the recombination fraction for ocular albinism (OA) and the Xg blood group (314700) is about 0.17. This was confirmed by Pearce et al. (1968) in an English kindred. From a Newfoundland kindred, Pearce et al. (1971) presented data that reduce the estimate of the interval between Xg and ocular albinism from 17 to 15. Confirmation of the linkage with Xg and demonstration of stripe-like areas of retinal hypopigmentation in carriers were also provided. Kidd et al. (1985) found RFLP markers tightly linked to OA. </p><p>Schnur et al. (1989) described the combination of ocular albinism and X-linked ichthyosis in 3 cytogenetically normal half brothers. A fourth half brother died at age 8 months of complications related to perinatal hypoxia and prematurity. Each of the 4 boys had a different father. No additional clinical features that have been described with other deletion syndromes in this area were present. The STS locus was entirely deleted on Southern blots in the affected males, but the MIC2X (313470) and several anonymous DNA loci were not deleted. The mother had patchy fundal hypopigmentation consistent with random X inactivation in an OA1 carrier. Flow cytometry analysis of cultured lymphoblasts detected a deletion of about 3.5 million bp or about 2% of the X chromosome. The observations with markers suggested that OA1 is located in the Xp22.3 region. </p><p>Bergen et al. (1991) presented information from a multipoint linkage analysis involving several DNA markers in the distal portion of Xp. Bergen et al. (1992) reported carrier detection in this disorder by use of markers that flank the OA1 locus. By multipoint linkage analysis in 16 British families, Charles et al. (1992) placed the OA1 locus between DXS85 proximally and DXS237 distally. They found that OA1 lies close to DXS143, but in the absence of recombinants the order of the loci could not be determined. </p><p>From genetic linkage studies in the large Newfoundland family reported previously by Pearce et al. (1971), Charles et al. (1993) found evidence that the order is Xpter--XG--DXS237--DXS143--OA1--DXS85. Bergen et al. (1993) found a similar order: Xpter--STS--DXS237--KAL--(OA1, DXS143)--DXS85--DXS16--Xcen. </p><p>By comparative deletion mapping, Meindl et al. (1993) located the OA1 gene proximal to DXS143 and distal to DXS85. Using a dinucleotide repeat polymorphism at the Kallmann locus to study 17 OA1 families, Zhang et al. (1993) found close linkage between KAL and OA1 with a maximum lod score of 30.14 at a recombination fraction of 0.06. There was looser linkage to the Xg blood group. Both KAL and XG are distal to OA1. By deletion analysis, Bouloux et al. (1993) concluded that the OA1 locus is located proximal to the STS locus (300747). </p><p>By combined multipoint analysis (LINKMAP) in 11 families with OA1 and analysis of individual recombination events, Schnur et al. (1994) confirmed that the major locus for OA1 resides within the DXS85-DXS143 interval. </p><p>Bassi et al. (1995) mapped the OA1 gene (GPR143) to chromosome Xp22.3-p22.2, approximately 20 kb on the telomeric side of the APXL gene (SHROOM2; 300103). APXL spans 80 of the 110 kb of the OA1 critical region. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Bassi et al. (1995) identified 5 patients with OA1 who were carrying mutations within the GPR143 gene. Five intragenic deletions and a 2-bp insertion resulting in a premature stop codon (300808.0001) were identified by DNA analysis of patients with OA1. Some of these deletions were not overlapping, making it highly unlikely that the mutation involved in OA1 is located in an intron of the gene. Fine molecular characterization of the gene in one of these patients demonstrated that the deletion removed part of a coding exon. The APXL gene was completely deleted in 1 patient with isolated OA1. However, an extensive search for point mutations was performed in the 4,848-bp coding region of APXL from 57 patients and no functionally relevant mutation was identified. </p><p>Schiaffino et al. (1995) screened the entire OA1 coding region and 5-prime and 3-prime sequences for mutations and detected mutations in only one-third (21 of 60) of their patients with OA, including 2 frameshifts (e.g., 300808.0002) and a splice site mutation leading to truncated OA1 proteins, a deletion of a threonine codon at position 290, and 4 missense mutations (e.g., 300808.0008), 2 of which involve amino acids located within putative transmembrane domains. </p><p>Schnur et al. (1998) reported results of deletion and mutation screening of the full-length OA1 gene in 29 unrelated North American and Australian OA probands, including 5 with additional, nonocular phenotypic abnormalities (Schnur et al., 1994). They detected 13 intragenic gene deletions, including 3 of exon 1, 2 of exon 2, 2 of exon 4, and 6 others, which span exons 2 to 8. They also identified 8 novel missense mutations, which clustered within exons 1, 2, 3, and 6 in conserved and/or putative transmembrane domains of the protein. There was also a splice acceptor site mutation, a nonsense mutation, a single base deletion, and a previously reported 17-bp exon 1 deletion. All patients with nonocular phenotypic abnormalities had detectable mutations. All told, 26 (approximately 90%) of 29 probands had detectable alterations in the OA1 gene, thus confirming that OA1 is the major locus for X-linked OA. </p><p>In Denmark, Rosenberg and Schwartz (1998) performed a retrospective survey of 112 patients with ocular albinism identified in a national register, including 60 male patients with proven or presumed X-linked ocular albinism. Based on the birth year cohorts 1960 to 1989, a point prevalence for OA1 at birth of 1 in 60,000 live born was calculated. They identified 14 OA1 families in the Danish population and obtained DNA from affected persons in 9 families. Mutation analysis demonstrated 7 presumed pathogenic mutations in the 9 families: 5 single nucleotide substitutions predicting a change of conserved amino acids, including G35D (300808.0008) and W133R (300808.0006), when compared with the mouse OA1 homolog, 1 deletion leading to the skipping of exon 2, and 1 example of a single nucleotide substitution expected to affect the 5-prime splice site of intron 2 (300808.0007). Subsequent genealogic investigations in the 3 families harboring the same mutation, W133R, disclosed that 2 of the 3 belonged to the same family. Clinical examination failed to identify any phenotype-genotype pattern except for the finding of a milder phenotype lacking iris translucency in the patient with the 5-prime splice site mutation of intron 2. </p><p>Oetting (2002) found that a total of 25 missense, 2 nonsense, 9 frameshift, and 5 splicing mutations in the OA1 gene had been reported in association with type I ocular albinism. There were also reports of several deletions of some or all exons of the OA1 gene with deletions of exon 2 resulting from unequal crossing-over, due to flanking Alu repeats. Oetting (2002) referred to an albinism database website. </p><p>In a Chinese patient with ocular albinism and his carrier mother, who both demonstrated an unusual phenotype of iris hyperpigmentation without translucency, with apparent mosaic pigmentation of the fundus. Xiao and Zhang (2009) identified an intragenic deletion in the GPR143 gene (300808.0013). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>D'Addio et al. (2000) characterized 19 independent missense mutations with respect to processing and subcellular distribution on expression in COS-7 cells. Eleven of the 19 OA1 mutants (approximately 60%) were retained in the endoplasmic reticulum, showing defective intracellular transport and glycosylation, consistent with protein misfolding. The remaining 8 OA1 mutants (approximately 40%) displayed sorting and processing behaviors indistinguishable from those of the wildtype protein. Most of the latter mutations clustered within the second and third cytosolic loops, 2 regions that in canonical GPCRs are known to be critical for their downstream signaling, including G protein coupling and effector activation. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Bassi et al. (2001) found a rather striking difference in the frequency of large deletions in the OA1 gene as the cause of ocular albinism type 1 in patients from Europe and North America: large deletions accounted for only 8% (3 of 36) of mutations identified in European OA1 patients; large deletions were found in 57% (8 of 14) of North American OA1 patients. The explanation for this distribution was unclear. The authors stated that their findings have major relevance for the molecular diagnosis of OA1 and need to be considered in any mutation testing program for this disorder. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Incerti et al. (2000) generated and characterized Oa1-deficient mice by gene targeting. The knockout males were viable, fertile, and phenotypically indistinguishable from the wildtype littermates. Ophthalmologic examination showed hypopigmentation of the ocular fundus in mutant animals compared with wildtype. Analysis of the retinofugal pathway revealed a reduction in the size of the uncrossed pathway, demonstrating a misrouting of the optic fibers at the chiasm, as observed in OA1 patients. Microscopic examination of the RPE showed the presence of giant melanosomes comparable with those described in OA1 patients. Ultrastructural analysis of the RPE cells suggested that the giant melanosomes may form by abnormal growth of single melanosomes rather than by the fusion of several organelles. </p><p>Palmisano et al. (2008) found reduced melanosome number and abnormal melanosome distribution toward the apical pole of Oa1 -/- RPE at embryonic stages that preceded the formation of macromelanosomes. In cultured -/- skin melanocytes, melanosomes were depleted from the perinuclear area and accumulated toward the cell periphery. In Oa1 -/- melanocytes, melanosomes interacted normally with the microtubule cytoskeleton and recruited factors required for actin-mediated melanosome capture; however, Oa1 -/- melanosomes appeared unable to release from the peripheral actin filaments. Palmisano et al. (2008) concluded that OA1 plays a regulatory role in distributing melanosomes between microtubule- and actin-based cytoskeletal elements. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Gillespie (1961); Jaeger and Jay (1981); Liu et al. (2007); Negrelli
|
|
(1959); O'Donnell et al. (1978); Pearce et al. (1972); Pearce and
|
|
Sanger (1976)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bassi, M. T., Bergen, A. A. B., Bitoun, P., Charles, S. J., Clementi, M., Gosselin, R., Hurst, J., Lewis, R. A., Lorenz, B., Meitinger, T., Messiaen, L., Ramesar, R. S., Ballabio, A., Schiaffino, M. V.
|
|
<strong>Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.</strong>
|
|
Hum. Genet. 108: 51-54, 2001.
|
|
|
|
|
|
[PubMed: 11214907]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390000440]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bassi, M. T., Schiaffino, M. V., Renieri, A., De Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A. A. B., Lewis, R. A., Ballabio, A.
|
|
<strong>Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.</strong>
|
|
Nature Genet. 10: 13-19, 1995.
|
|
|
|
|
|
[PubMed: 7647783]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0595-13]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bergen, A. A. B., Samanns, C., Schuurman, E. J. M., van Osch, L., van Dorp, D. B., Pinckers, A. J. L. G., Bakker, E., Gal, A., van Ommen, G. J. B., Bleeker-Wagemakers, E. M.
|
|
<strong>Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type.</strong>
|
|
Hum. Genet. 88: 162-166, 1991.
|
|
|
|
|
|
[PubMed: 1684563]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00206065]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bergen, A. A. B., Schuurman, E. J. M., van den Born, L. I., Samanns, C., van Dorp, D. B., Pinckers, A. J. L. G., Bakker, E., van Ommen, G. J. B., Gal, A., Bleeker-Wagemakers, E. M.
|
|
<strong>Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.</strong>
|
|
Clin. Genet. 41: 135-138, 1992.
|
|
|
|
|
|
[PubMed: 1348665]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03649.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bergen, A. A. B., Zijp, P., Schuurman, E. J. M., Bleeker-Wagemakers, E. M., Apkarian, P., van Ommen, G.-J. B.
|
|
<strong>Refinement of the localization of the X-linked ocular albinism gene.</strong>
|
|
Genomics 16: 272-273, 1993.
|
|
|
|
|
|
[PubMed: 8486373]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1993.1176]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bouloux, P.-M. G., Kirk, J., Munroe, P., Duke, V., Meindl, A., Hilson, A., Grant, D., Carter, N., Betts, D., Meitinger, T., Besser, G. M.
|
|
<strong>Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus.</strong>
|
|
Clin. Genet. 43: 169-173, 1993.
|
|
|
|
|
|
[PubMed: 8330450]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb04442.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Charles, S. J., Green, J. S., Moore, A. T., Barton, D. E., Yates, J. R. W.
|
|
<strong>Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.</strong>
|
|
Genomics 16: 259-261, 1993.
|
|
|
|
|
|
[PubMed: 8486368]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1993.1171]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Charles, S. J., Moore, A. T., Yates, J. R. W.
|
|
<strong>Genetic mapping of X linked ocular albinism: linkage analysis in British families.</strong>
|
|
J. Med. Genet. 29: 552-554, 1992.
|
|
|
|
|
|
[PubMed: 1355560]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.29.8.552]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Creel, D., O'Donnell, F. E., Jr., Witkop, C. J., Jr.
|
|
<strong>Visual system anomalies in human ocular albinos.</strong>
|
|
Science 201: 931-933, 1978.
|
|
|
|
|
|
[PubMed: 684419]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.684419]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
d'Addio, M., Pizzigoni, A., Bassi, M. T., Baschirotto, C., Valetti, C., Incerti, B., Clementi, M., De Luca, M., Ballabio, A., Schiaffino, M. V.
|
|
<strong>Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.</strong>
|
|
Hum. Molec. Genet. 9: 3011-3018, 2000.
|
|
|
|
|
|
[PubMed: 11115845]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/9.20.3011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Engelhard, C. F.
|
|
<strong>Eine Familie mit hereditaerem Nystagmus.</strong>
|
|
Z. Ges. Neurol. Psychiat. 28: 319-338, 1915.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fialkow, P. J., Giblett, E. R., Motulsky, A. G.
|
|
<strong>Measurable linkage between ocular albinism and Xg.</strong>
|
|
Am. J. Hum. Genet. 19: 63-69, 1967.
|
|
|
|
|
|
[PubMed: 6019304]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Francois, J., Deweer, J. P.
|
|
<strong>Albinisme oculaire lie au sexe et alterations caracteristiques du fond d'oeil chez les femmes heterozygotes.</strong>
|
|
Ophthalmologica 126: 209-221, 1953.
|
|
|
|
|
|
[PubMed: 13120104]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000301877]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gillespie, F. D.
|
|
<strong>Ocular albinism with report of a family with female carriers.</strong>
|
|
Arch. Ophthal. 66: 774-777, 1961.
|
|
|
|
|
|
[PubMed: 13898629]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1961.00960010776003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Incerti, B., Cortese, K., Pizzigoni, A., Surace, E. M., Varani, S., Coppola, M., Jeffery, G., Seeliger, M., Jaissle, G., Bennett, D. C., Marigo, V., Schiaffino, M. V., Tacchetti, C., Ballabio, A.
|
|
<strong>Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.</strong>
|
|
Hum. Molec. Genet. 9: 2781-2788, 2000.
|
|
|
|
|
|
[PubMed: 11092754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/9.19.2781]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jaeger, C., Jay, B.
|
|
<strong>X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism.</strong>
|
|
Hum. Genet. 56: 299-304, 1981.
|
|
|
|
|
|
[PubMed: 7239514]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00274683]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kidd, J. R., Castiglione, C. M., Davies, K. E., Pakstis, A. J., Gusella, J., Sparkes, R. S., Pearson, P., Willard, H., Kidd, K. K.
|
|
<strong>Mapping the locus for X-linked ocular albinism (OA). (Abstract)</strong>
|
|
Am. J. Hum. Genet. 37: A161 only, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lein, J. N., Stewart, C. T., Moll, F. C.
|
|
<strong>Sex-linked hereditary nystagmus.</strong>
|
|
Pediatrics 18: 214-217, 1956.
|
|
|
|
|
|
[PubMed: 13349334]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, J. Y., Ren, X., Yang, X., Guo, T., Yao, Q., Li, L., Dai, X., Zhang, M., Wang, L., Liu, M., Wang, Q. K.
|
|
<strong>Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.</strong>
|
|
J. Hum. Genet. 52: 565-570, 2007.
|
|
|
|
|
|
[PubMed: 17516023]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10038-007-0152-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lyon, M. F.
|
|
<strong>Sex chromatin and gene action in the mammalian X-chromosome.</strong>
|
|
Am. J. Hum. Genet. 14: 135-148, 1962.
|
|
|
|
|
|
[PubMed: 14467629]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>On the X Chromosome of Man.</strong>
|
|
Washington, D.C.: Am. Inst. Biol. Sci. (pub.) 1964.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meindl, A., Hosenfeld, D., Bruckl, W., Schuffenhauer, S., Jenderny, J., Bacskulin, A., Oppermann, H.-C., Swensson, O., Bouloux, P., Meitinger, T.
|
|
<strong>Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.</strong>
|
|
J. Med. Genet. 30: 838-842, 1993.
|
|
|
|
|
|
[PubMed: 8230160]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.30.10.838]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Negrelli, B. C.
|
|
<strong>L'albinisme oculaire lie au sexe dans le cadre du depistage des heterozygotes en ophtalmologie.</strong>
|
|
J. Genet. Hum. 8: 108 only, 1959.
|
|
|
|
|
|
[PubMed: 13812459]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Donnell, F. E., Jr., Green, W. R., Fleishman, J. A., Hambrick, G. W.
|
|
<strong>X-linked ocular albinism in Blacks: ocular albinism cum pigmento.</strong>
|
|
Arch. Ophthal. 96: 1189-1192, 1978.
|
|
|
|
|
|
[PubMed: 666626]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1978.03910060023005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Donnell, F. E., Jr., Hambrick, G. W., Jr., Green, W. R., Iliff, W. J., Stone, D. L.
|
|
<strong>X-linked ocular albinism: an oculocutaneous macromelanosomal disorder.</strong>
|
|
Arch. Ophthal. 94: 1883-1892, 1976.
|
|
|
|
|
|
[PubMed: 985163]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1976.03910040593001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Oetting, W. S.
|
|
<strong>New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene.</strong>
|
|
Hum. Mutat. 19: 85-92, 2002.
|
|
|
|
|
|
[PubMed: 11793467]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.10034]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Palmisano, I., Bagnato, P., Palmigiano, A., Innamorati, G., Rotondo, G., Altimare, D., Venturi, C., Sviderskaya, E. V., Piccirillo, R., Coppola, M., Marigo, V., Incerti, B., Ballabio, A., Surace, E. M., Tacchetti, C., Bennett, D. C., Schiaffino, M. V.
|
|
<strong>The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.</strong>
|
|
Hum. Molec. Genet. 17: 3487-3501, 2008. Note: Erratum: Hum. Molec. Genet. 26: 3028-3029, 2017.
|
|
|
|
|
|
[PubMed: 18697795]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddn241]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pearce, W. G., Johnson, G. J., Gillan, J. G.
|
|
<strong>Nystagmus in a female carrier of ocular albinism.</strong>
|
|
J. Med. Genet. 9: 126-128, 1972.
|
|
|
|
|
|
[PubMed: 5025477]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.9.1.126]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pearce, W. G., Johnson, G. J., Sanger, R.
|
|
<strong>Ocular albinism and Xg. (Letter)</strong>
|
|
Lancet 297: 1072 only, 1971. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 4102999]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(71)91636-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pearce, W. G., Sanger, R., Race, R. R.
|
|
<strong>Ocular albinism and Xg.</strong>
|
|
Lancet 291: 1282-1283, 1968. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 4172140]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(68)92295-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pearce, W. G., Sanger, R.
|
|
<strong>X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness.</strong>
|
|
J. Med. Genet. 13: 319 only, 1976.
|
|
|
|
|
|
[PubMed: 1085370]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.13.4.319]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Preising, M., Op de Laak, J.-P., Lorenz, B.
|
|
<strong>Deletion in the OA1 gene in a family with congenital X linked nystagmus.</strong>
|
|
Brit. J. Ophthal. 85: 1098-1103, 2001.
|
|
|
|
|
|
[PubMed: 11520764]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bjo.85.9.1098]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rosenberg, T., Schwartz, M.
|
|
<strong>X-linked ocular albinism: prevalence and mutations--a national study.</strong>
|
|
Europ. J. Hum. Genet. 6: 570-577, 1998.
|
|
|
|
|
|
[PubMed: 9887374]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200226]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schiaffino, M. V., Bassi, M. T., Galli, L., Renieri, A., Bruttini, M., De Nigris, F., Bergen, A. A. B., Charles, S. J., Yates, J. R. W., Meindl, A., Lewis, R. A., King, R. A., Ballabio, A.
|
|
<strong>Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.</strong>
|
|
Hum. Molec. Genet. 4: 2319-2325, 1995.
|
|
|
|
|
|
[PubMed: 8634705]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.12.2319]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schmitz, B., Schaefer, T., Krick, C. M., Reith, W., Backens, M., Kasmann-Kellner, B.
|
|
<strong>Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging.</strong>
|
|
Invest. Ophthal. Vis. Sci. 44: 16-21, 2003.
|
|
|
|
|
|
[PubMed: 12506050]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.02-0156]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schnur, R. E., Gao, M., Wick, P. A., Keller, M., Benke, P. J., Edwards, M. J., Grix, A. W., Hockey, A., Jung, J. H., Kidd, K. K., Kistenmacher, M., Levin, A. V., and 11 others.
|
|
<strong>OA1 mutations and deletions in X-linked ocular albinism.</strong>
|
|
Am. J. Hum. Genet. 62: 800-809, 1998.
|
|
|
|
|
|
[PubMed: 9529334]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/301776]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schnur, R. E., Trask, B. J., van den Engh, G., Punnett, H. H., Kistenmacher, M., Tomeo, M. A., Naids, R. E., Nussbaum, R. L.
|
|
<strong>An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.</strong>
|
|
Am. J. Hum. Genet. 45: 706-720, 1989.
|
|
|
|
|
|
[PubMed: 2573275]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schnur, R. E., Wick, P. A., Bailey, C., Rebbeck, T., Weleber, R. G., Wagstaff, J., Grix, A. W., Pagon, R. A., Hockey, A., Edwards, M. J.
|
|
<strong>Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.</strong>
|
|
Am. J. Hum. Genet. 55: 484-496, 1994.
|
|
|
|
|
|
[PubMed: 7915878]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vogt, A.
|
|
<strong>Die Iris: Albinismus solum bulbi. Atlas fur Spaltlampen-Mikroskopie. (3rd ed.)</strong>
|
|
Stuttgart: Henke 1942.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Waardenburg, P. J., Van den Bosch, J.
|
|
<strong>X-chromosomal ocular albinism in a Dutch family.</strong>
|
|
Ann. Hum. Genet. 21: 101-122, 1956.
|
|
|
|
|
|
[PubMed: 13373175]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-1809.1971.tb00270.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Xiao, X., Zhang, Q.
|
|
<strong>Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.</strong>
|
|
Am. J. Med. Genet. 149A: 1786-1788, 2009.
|
|
|
|
|
|
[PubMed: 19610097]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.32818]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zhang, Y., McMahon, R., Charles, S. J., Green, J. S., Moore, A. T., Barton, D. E., Yates, J. R. W.
|
|
<strong>Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.</strong>
|
|
J. Med. Genet. 30: 923-925, 1993.
|
|
|
|
|
|
[PubMed: 8301646]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.30.11.923]
|
|
|
|
|
|
</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">
|
|
Marla J. F. O'Neill - updated : 6/10/2011<br>Cassandra L. Kniffin - updated : 1/15/2010<br>Patricia A. Hartz - updated : 11/3/2009<br>Marla J. F. O'Neill - updated : 6/3/2009<br>Patricia A. Hartz - updated : 11/11/2005<br>Jane Kelly - updated : 3/19/2003<br>Victor A. McKusick - updated : 2/21/2002<br>George E. Tiller - updated : 3/5/2001<br>George E. Tiller - updated : 2/6/2001<br>Victor A. McKusick - updated : 1/31/2001<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 3/17/1999<br>Victor A. McKusick - updated : 5/13/1998
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 12/13/2022<br>carol : 12/09/2022<br>carol : 09/27/2018<br>carol : 10/17/2016<br>carol : 07/09/2016<br>carol : 5/2/2016<br>carol : 4/8/2013<br>wwang : 6/16/2011<br>terry : 6/10/2011<br>carol : 5/4/2010<br>ckniffin : 1/15/2010<br>ckniffin : 1/15/2010<br>mgross : 11/9/2009<br>mgross : 11/9/2009<br>terry : 11/3/2009<br>carol : 6/25/2009<br>wwang : 6/3/2009<br>terry : 3/27/2009<br>carol : 10/31/2008<br>carol : 10/9/2008<br>carol : 9/12/2007<br>carol : 9/6/2007<br>carol : 9/6/2007<br>carol : 8/14/2006<br>mgross : 12/6/2005<br>terry : 11/11/2005<br>carol : 6/25/2004<br>carol : 6/25/2004<br>terry : 6/2/2004<br>alopez : 3/17/2004<br>alopez : 11/21/2003<br>alopez : 11/6/2003<br>carol : 9/9/2003<br>cwells : 3/19/2003<br>cwells : 3/13/2002<br>cwells : 2/22/2002<br>cwells : 2/22/2002<br>terry : 2/21/2002<br>cwells : 3/6/2001<br>cwells : 3/5/2001<br>cwells : 3/2/2001<br>carol : 2/26/2001<br>cwells : 2/6/2001<br>cwells : 2/5/2001<br>mcapotos : 2/2/2001<br>mcapotos : 2/2/2001<br>terry : 1/31/2001<br>alopez : 12/7/1999<br>alopez : 8/31/1999<br>carol : 8/31/1999<br>terry : 3/17/1999<br>dholmes : 7/2/1998<br>alopez : 5/19/1998<br>terry : 5/13/1998<br>joanna : 10/22/1997<br>terry : 11/6/1996<br>terry : 10/30/1996<br>mark : 9/25/1996<br>terry : 9/11/1996<br>mark : 6/1/1995<br>carol : 11/9/1994<br>davew : 7/6/1994<br>warfield : 3/11/1994<br>mimadm : 2/27/1994<br>carol : 12/20/1993
|
|
</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 15, 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>
|
|
|
|
|