SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders
Identifieur interne : 000C00 ( Main/Curation ); précédent : 000B99; suivant : 000C01SALL4 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.
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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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Froster</name><affiliation wicri:level="1"><mods:affiliation>Universität Leipzig, Leipzig, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Universität Leipzig, Leipzig</wicri:regionArea></affiliation></author><author><name sortKey="Fuchs, Sigrun" sort="Fuchs, Sigrun" uniqKey="Fuchs S" first="Sigrun" last="Fuchs">Sigrun Fuchs</name><affiliation wicri:level="1"><mods:affiliation>Universität Frankfurt/Main, Frankfurt/Main, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Universität Frankfurt/Main, Frankfurt/Main</wicri:regionArea></affiliation></author><author><name sortKey="Montgomery, Tara" sort="Montgomery, Tara" uniqKey="Montgomery T" first="Tara" last="Montgomery">Tara Montgomery</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, International Centre for Life, Newcastle‐upon‐Tyne, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Genetics, International Centre for Life, Newcastle‐upon‐Tyne</wicri:regionArea></affiliation></author><author><name sortKey="Rosler, Bernd" sort="Rosler, Bernd" uniqKey="Rosler B" first="Bernd" last="Rösler">Bernd Rösler</name><affiliation wicri:level="1"><mods:affiliation>Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Human Genetics and Anthropology, Universität Freiburg, Freiburg</wicri:regionArea></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></record>Pour manipuler ce document sous Unix (Dilib)
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