SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders
Identifieur interne : 000C16 ( Main/Corpus ); précédent : 000C15; suivant : 000C17SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders
Auteurs : Jürgen Kohlhase ; David Chitayat ; Dieter Kotzot ; Serdar Ceylaner ; Ursula G. Froster ; Sigrun Fuchs ; Tara Montgomery ; Bernd RöslerSource :
- Human Mutation [ 1059-7794 ] ; 2005-09.
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Abstract
Okihiro/Duane‐radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in the SALL4 gene, a human gene related to the developmental regulator spalt (sal) of Drosophila melanogaster. SALL4 mutations may also cause acro‐renal‐ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt‐Oram syndrome (HOS). The SALL4 gene product is a zinc finger protein that is thought to act as a transcription factor. It contains three highly conserved C2H2 double zinc finger domains, which are evenly distributed. A single C2H2 motif is attached to the second domain, and at the amino terminus SALL4 contains a C2HC motif. Seventeen of the 22 SALL4 mutations known to date (five of which are presented here for the first time) are located in exon 2, and five are located in exon 3. These are nonsense mutations, short duplications, and short deletions. All of the mutations lead to preterminal stop codons and are thought to cause the phenotype via haploinsufficiency. This assumption is supported by the detection of six larger deletions involving the whole gene or single exons. This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. Hum Mutat 26(3), 176–183, 2005. © 2005 Wiley‐Liss, Inc.
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DOI: 10.1002/humu.20215
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Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in the SALL4 gene, a human gene related to the developmental regulator spalt (sal) of Drosophila melanogaster. SALL4 mutations may also cause acro‐renal‐ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt‐Oram syndrome (HOS). The SALL4 gene product is a zinc finger protein that is thought to act as a transcription factor. It contains three highly conserved C2H2 double zinc finger domains, which are evenly distributed. A single C2H2 motif is attached to the second domain, and at the amino terminus SALL4 contains a C2HC motif. Seventeen of the 22 SALL4 mutations known to date (five of which are presented here for the first time) are located in exon 2, and five are located in exon 3. These are nonsense mutations, short duplications, and short deletions. All of the mutations lead to preterminal stop codons and are thought to cause the phenotype via haploinsufficiency. This assumption is supported by the detection of six larger deletions involving the whole gene or single exons. This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. Hum Mutat 26(3), 176–183, 2005. © 2005 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Jürgen Kohlhase</name><affiliations><json:string>Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg, Germany</json:string></affiliations></json:item><json:item><name>David Chitayat</name><affiliations><json:string>Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, and Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Dieter Kotzot</name><affiliations><json:string>Universität Innsbruck, Innsbruck, Austria</json:string></affiliations></json:item><json:item><name>Serdar Ceylaner</name><affiliations><json:string>Zekai Tahir Burak Womens Health and Education Hospital, Department of Genetics, Ankara, Turkey</json:string></affiliations></json:item><json:item><name>Ursula G. Froster</name><affiliations><json:string>Universität Leipzig, Leipzig, Germany</json:string></affiliations></json:item><json:item><name>Sigrun Fuchs</name><affiliations><json:string>Universität Frankfurt/Main, Frankfurt/Main, Germany</json:string></affiliations></json:item><json:item><name>Tara Montgomery</name><affiliations><json:string>Institute of Human Genetics, International Centre for Life, Newcastle‐upon‐Tyne, UK</json:string></affiliations></json:item><json:item><name>Bernd Rösler</name><affiliations><json:string>Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>SALL4</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Okihiro syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>acro‐renal‐ocular syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>zinc finger</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>transcription factor</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>haploinsufficiency</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Okihiro/Duane‐radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in the SALL4 gene, a human gene related to the developmental regulator spalt (sal) of Drosophila melanogaster. SALL4 mutations may also cause acro‐renal‐ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt‐Oram syndrome (HOS). The SALL4 gene product is a zinc finger protein that is thought to act as a transcription factor. It contains three highly conserved C2H2 double zinc finger domains, which are evenly distributed. A single C2H2 motif is attached to the second domain, and at the amino terminus SALL4 contains a C2HC motif. Seventeen of the 22 SALL4 mutations known to date (five of which are presented here for the first time) are located in exon 2, and five are located in exon 3. These are nonsense mutations, short duplications, and short deletions. All of the mutations lead to preterminal stop codons and are thought to cause the phenotype via haploinsufficiency. This assumption is supported by the detection of six larger deletions involving the whole gene or single exons. This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. 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Mutat.</title><idno type="pISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><idno type="DOI">10.1002/(ISSN)1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-09"></date><biblScope unit="volume">26</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="176">176</biblScope><biblScope unit="page" to="183">183</biblScope></imprint></monogr><idno type="istex">0FA3838790F31E34A1F9F4EE9A1A16352F9E210A</idno><idno type="DOI">10.1002/humu.20215</idno><idno type="ArticleID">HUMU20215</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2005</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Okihiro/Duane‐radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in the SALL4 gene, a human gene related to the developmental regulator spalt (sal) of Drosophila melanogaster. SALL4 mutations may also cause acro‐renal‐ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt‐Oram syndrome (HOS). The SALL4 gene product is a zinc finger protein that is thought to act as a transcription factor. It contains three highly conserved C2H2 double zinc finger domains, which are evenly distributed. A single C2H2 motif is attached to the second domain, and at the amino terminus SALL4 contains a C2HC motif. Seventeen of the 22 SALL4 mutations known to date (five of which are presented here for the first time) are located in exon 2, and five are located in exon 3. These are nonsense mutations, short duplications, and short deletions. All of the mutations lead to preterminal stop codons and are thought to cause the phenotype via haploinsufficiency. This assumption is supported by the detection of six larger deletions involving the whole gene or single exons. This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. Hum Mutat 26(3), 176–183, 2005. © 2005 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>SALL4</term></item><item><term>Okihiro syndrome</term></item><item><term>acro‐renal‐ocular syndrome</term></item><item><term>mutation</term></item><item><term>zinc finger</term></item><item><term>transcription factor</term></item><item><term>haploinsufficiency</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Mutation Update</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2005-02-02">Received</change><change when="2005-04-21">Registration</change><change when="2005-09">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/0FA3838790F31E34A1F9F4EE9A1A16352F9E210A/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1098-1004</doi><issn type="print">1059-7794</issn><issn type="electronic">1098-1004</issn><idGroup><id type="product" value="HUMU"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="HUMAN MUTATION">Human Mutation</title><title type="short">Hum. 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type="referenceTotal" number="45"></count></countGroup><titleGroup><title type="main" xml:lang="en"><i>SALL4</i> mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders<link href="#fn1"></link></title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Jürgen</givenNames><familyName>Kohlhase</familyName></personName><contactDetails><email normalForm="juergen.kohlhase@uniklinik-freiburg.de">juergen.kohlhase@uniklinik‐freiburg.de</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>David</givenNames><familyName>Chitayat</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Dieter</givenNames><familyName>Kotzot</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Serdar</givenNames><familyName>Ceylaner</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Ursula G.</givenNames><familyName>Froster</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Sigrun</givenNames><familyName>Fuchs</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Tara</givenNames><familyName>Montgomery</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Bernd</givenNames><familyName>Rösler</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="DE" type="organization"><unparsedAffiliation>Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CA" type="organization"><unparsedAffiliation>Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, and Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="AT" type="organization"><unparsedAffiliation>Universität Innsbruck, Innsbruck, Austria</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="TR" type="organization"><unparsedAffiliation>Zekai Tahir Burak Womens Health and Education Hospital, Department of Genetics, Ankara, Turkey</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="DE" type="organization"><unparsedAffiliation>Universität Leipzig, Leipzig, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="DE" type="organization"><unparsedAffiliation>Universität Frankfurt/Main, Frankfurt/Main, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="GB" type="organization"><unparsedAffiliation>Institute of Human Genetics, International Centre for Life, Newcastle‐upon‐Tyne, UK</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">SALL4</keyword><keyword xml:id="kwd2">Okihiro syndrome</keyword><keyword xml:id="kwd3">acro‐renal‐ocular syndrome</keyword><keyword xml:id="kwd4">mutation</keyword><keyword xml:id="kwd5">zinc finger</keyword><keyword xml:id="kwd6">transcription factor</keyword><keyword xml:id="kwd7">haploinsufficiency</keyword></keywordGroup><fundingInfo><fundingAgency>Deutsche Forschungsgemeinschaft</fundingAgency><fundingNumber>Ko1850/7‐1</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Okihiro/Duane‐radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in the <i>SALL4</i> gene, a human gene related to the developmental regulator <i>spalt</i> (<i>sal</i>) of <i>Drosophila melanogaster. SALL4</i> mutations may also cause acro‐renal‐ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt‐Oram syndrome (HOS). The <i>SALL4</i> gene product is a zinc finger protein that is thought to act as a transcription factor. It contains three highly conserved C2H2 double zinc finger domains, which are evenly distributed. A single C2H2 motif is attached to the second domain, and at the amino terminus SALL4 contains a C2HC motif. Seventeen of the 22 <i>SALL4</i> mutations known to date (five of which are presented here for the first time) are located in exon 2, and five are located in exon 3. These are nonsense mutations, short duplications, and short deletions. All of the mutations lead to preterminal stop codons and are thought to cause the phenotype via haploinsufficiency. This assumption is supported by the detection of six larger deletions involving the whole gene or single exons. This article summarizes the current knowledge about <i>SALL4</i> defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. Hum Mutat 26(3), 176–183, 2005. © 2005 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Communicated by Maria Rita Passos‐Bueno</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders</title></titleInfo><name type="personal"><namePart type="given">Jürgen</namePart><namePart type="family">Kohlhase</namePart><affiliation>Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg, Germany</affiliation><description>Correspondence: Institute for Human Genetics and Anthropology, University of Freiburg, Breisacher Str. 33, D‐79106 Freiburg, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Chitayat</namePart><affiliation>Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, and Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dieter</namePart><namePart type="family">Kotzot</namePart><affiliation>Universität Innsbruck, Innsbruck, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Serdar</namePart><namePart type="family">Ceylaner</namePart><affiliation>Zekai Tahir Burak Womens Health and Education Hospital, Department of Genetics, Ankara, Turkey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ursula G.</namePart><namePart type="family">Froster</namePart><affiliation>Universität Leipzig, Leipzig, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sigrun</namePart><namePart type="family">Fuchs</namePart><affiliation>Universität Frankfurt/Main, Frankfurt/Main, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tara</namePart><namePart type="family">Montgomery</namePart><affiliation>Institute of Human Genetics, International Centre for Life, Newcastle‐upon‐Tyne, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bernd</namePart><namePart type="family">Rösler</namePart><affiliation>Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2005-09</dateIssued><dateCaptured encoding="w3cdtf">2005-02-02</dateCaptured><dateValid encoding="w3cdtf">2005-04-21</dateValid><copyrightDate encoding="w3cdtf">2005</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">3</extent><extent unit="references">45</extent></physicalDescription><abstract lang="en">Okihiro/Duane‐radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in the SALL4 gene, a human gene related to the developmental regulator spalt (sal) of Drosophila melanogaster. SALL4 mutations may also cause acro‐renal‐ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt‐Oram syndrome (HOS). The SALL4 gene product is a zinc finger protein that is thought to act as a transcription factor. It contains three highly conserved C2H2 double zinc finger domains, which are evenly distributed. A single C2H2 motif is attached to the second domain, and at the amino terminus SALL4 contains a C2HC motif. Seventeen of the 22 SALL4 mutations known to date (five of which are presented here for the first time) are located in exon 2, and five are located in exon 3. These are nonsense mutations, short duplications, and short deletions. All of the mutations lead to preterminal stop codons and are thought to cause the phenotype via haploinsufficiency. This assumption is supported by the detection of six larger deletions involving the whole gene or single exons. This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. Hum Mutat 26(3), 176–183, 2005. © 2005 Wiley‐Liss, Inc.</abstract><note type="content">*Communicated by Maria Rita Passos‐Bueno</note><note type="funding">Deutsche Forschungsgemeinschaft - No. Ko1850/7‐1; </note><subject lang="en"><genre>Keywords</genre><topic>SALL4</topic><topic>Okihiro syndrome</topic><topic>acro‐renal‐ocular syndrome</topic><topic>mutation</topic><topic>zinc finger</topic><topic>transcription factor</topic><topic>haploinsufficiency</topic></subject><relatedItem type="host"><titleInfo><title>Human Mutation</title></titleInfo><titleInfo type="abbreviated"><title>Hum. Mutat.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Mutation Update</topic></subject><identifier type="ISSN">1059-7794</identifier><identifier type="eISSN">1098-1004</identifier><identifier type="DOI">10.1002/(ISSN)1098-1004</identifier><identifier type="PublisherID">HUMU</identifier><part><date>2005</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>176</start><end>183</end><total>8</total></extent></part></relatedItem><identifier type="istex">0FA3838790F31E34A1F9F4EE9A1A16352F9E210A</identifier><identifier type="DOI">10.1002/humu.20215</identifier><identifier type="ArticleID">HUMU20215</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2005 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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