SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders
Identifieur interne : 000739 ( Main/Exploration ); précédent : 000738; suivant : 000740SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders
Auteurs : Jürgen Kohlhase [Allemagne] ; David Chitayat [Canada] ; Dieter Kotzot [Autriche] ; Serdar Ceylaner [Turquie] ; Ursula G. Froster [Allemagne] ; Sigrun Fuchs [Allemagne] ; Tara Montgomery [Royaume-Uni] ; Bernd Rösler [Allemagne]Source :
- Human Mutation [ 1059-7794 ] ; 2005-09.
English descriptors
- KwdEn :
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.
Url:
DOI: 10.1002/humu.20215
Affiliations:
- Allemagne, Autriche, Canada, Royaume-Uni, Turquie
- Bade-Wurtemberg, District de Darmstadt, District de Fribourg-en-Brisgau, District de Leipzig, Hesse (Land), Ontario, Saxe (Land)
- Francfort-sur-le-Main, Fribourg-en-Brisgau, Leipzig, Toronto
- Université de Toronto
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Froster</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Universität Leipzig, Leipzig</wicri:regionArea><placeName><region type="land" nuts="1">Saxe (Land)</region><region type="district" nuts="2">District de Leipzig</region><settlement type="city">Leipzig</settlement></placeName></affiliation></author><author><name sortKey="Fuchs, Sigrun" sort="Fuchs, Sigrun" uniqKey="Fuchs S" first="Sigrun" last="Fuchs">Sigrun Fuchs</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Universität Frankfurt/Main, Frankfurt/Main</wicri:regionArea><placeName><settlement type="city">Francfort-sur-le-Main</settlement><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Darmstadt</region></placeName></affiliation></author><author><name sortKey="Montgomery, Tara" sort="Montgomery, Tara" uniqKey="Montgomery T" first="Tara" last="Montgomery">Tara Montgomery</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Genetics, International Centre for Life, Newcastle‐upon‐Tyne</wicri:regionArea><wicri:noRegion>Newcastle‐upon‐Tyne</wicri:noRegion></affiliation></author><author><name sortKey="Rosler, Bernd" sort="Rosler, Bernd" uniqKey="Rosler B" first="Bernd" last="Rösler">Bernd Rösler</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Fribourg-en-Brisgau</region><settlement type="city">Fribourg-en-Brisgau</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. Mutat.</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-09">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><idno type="ISSN">1059-7794</idno></series><idno type="istex">0FA3838790F31E34A1F9F4EE9A1A16352F9E210A</idno><idno type="DOI">10.1002/humu.20215</idno><idno type="ArticleID">HUMU20215</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Okihiro syndrome</term><term>SALL4</term><term>acro‐renal‐ocular syndrome</term><term>haploinsufficiency</term><term>mutation</term><term>transcription factor</term><term>zinc finger</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml: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.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Canada</li><li>Royaume-Uni</li><li>Turquie</li></country><region><li>Bade-Wurtemberg</li><li>District de Darmstadt</li><li>District de Fribourg-en-Brisgau</li><li>District de Leipzig</li><li>Hesse (Land)</li><li>Ontario</li><li>Saxe (Land)</li></region><settlement><li>Francfort-sur-le-Main</li><li>Fribourg-en-Brisgau</li><li>Leipzig</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Kohlhase, Jurgen" sort="Kohlhase, Jurgen" uniqKey="Kohlhase J" first="Jürgen" last="Kohlhase">Jürgen Kohlhase</name></region><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name><name sortKey="Fuchs, Sigrun" sort="Fuchs, Sigrun" uniqKey="Fuchs S" first="Sigrun" last="Fuchs">Sigrun Fuchs</name><name sortKey="Rosler, Bernd" sort="Rosler, Bernd" uniqKey="Rosler B" first="Bernd" last="Rösler">Bernd Rösler</name></country><country name="Canada"><region name="Ontario"><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name></region></country><country name="Autriche"><noRegion><name sortKey="Kotzot, Dieter" sort="Kotzot, Dieter" uniqKey="Kotzot D" first="Dieter" last="Kotzot">Dieter Kotzot</name></noRegion></country><country name="Turquie"><noRegion><name sortKey="Ceylaner, Serdar" sort="Ceylaner, Serdar" uniqKey="Ceylaner S" first="Serdar" last="Ceylaner">Serdar Ceylaner</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Montgomery, Tara" sort="Montgomery, Tara" uniqKey="Montgomery T" first="Tara" last="Montgomery">Tara Montgomery</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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