Coffin–Siris syndrome is a SWI/SNF complex disorder
Identifieur interne : 003E38 ( Main/Exploration ); précédent : 003E37; suivant : 003E39Coffin–Siris syndrome is a SWI/SNF complex disorder
Auteurs : Y. Tsurusaki [Japon] ; N. Okamoto [Japon] ; H. Ohashi [Japon] ; S. Mizuno [Japon] ; N. Matsumoto [Japon] ; Y. Makita [Japon] ; M. Fukuda [Japon] ; B. Isidor [France] ; J. Perrier [France] ; S. Aggarwal [Inde] ; A. B. Dalal [Inde] ; A. Al-Kindy [Oman] ; J. Liebelt [Australie] ; D. Mowat [Australie] ; M. Nakashima [Japon] ; H. Saitsu [Japon] ; N. Miyake [Japon] ; N. Matsumoto [Japon]Source :
- Clinical Genetics [ 0009-9163 ] ; 2014-06.
Abstract
Coffin–Siris syndrome (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. We previously reported that five genes are mutated in CSS, all of which encode subunits of the switch/sucrose non‐fermenting (SWI/SNF) ATP‐dependent chromatin‐remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B. In this study, we examined 49 newly recruited CSS‐suspected patients, and re‐examined three patients who did not show any mutations (using high‐resolution melting analysis) in the previous study, by whole‐exome sequencing or targeted resequencing. We found that SMARCB1, SMARCA4, or ARID1B were mutated in 20 patients. By examining available parental samples, we ascertained that 17 occurred de novo. All mutations in SMARCB1 and SMARCA4 were non‐truncating (missense or in‐frame deletion) whereas those in ARID1B were all truncating (nonsense or frameshift deletion/insertion) in this study as in our previous study. Our data further support that CSS is a SWI/SNF complex disorder.
Url:
DOI: 10.1111/cge.12225
Affiliations:
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Tsurusaki</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama</wicri:regionArea><wicri:noRegion>Yokohama</wicri:noRegion></affiliation></author><author><name sortKey="Okamoto, N" sort="Okamoto, N" uniqKey="Okamoto N" first="N." last="Okamoto">N. Okamoto</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi</wicri:regionArea><wicri:noRegion>Izumi</wicri:noRegion></affiliation></author><author><name sortKey="Ohashi, H" sort="Ohashi, H" uniqKey="Ohashi H" first="H." last="Ohashi">H. 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Matsumoto</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Asahikawa Medical University, Department of Pediatrics, Asahikawa Medical University, Asahikawa</wicri:regionArea><wicri:noRegion>Asahikawa</wicri:noRegion></affiliation></author><author><name sortKey="Makita, Y" sort="Makita, Y" uniqKey="Makita Y" first="Y." last="Makita">Y. Makita</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Education Center, Asahikawa Medical University, Asahikawa</wicri:regionArea><wicri:noRegion>Asahikawa</wicri:noRegion></affiliation></author><author><name sortKey="Fukuda, M" sort="Fukuda, M" uniqKey="Fukuda M" first="M." last="Fukuda">M. Fukuda</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki</wicri:regionArea><wicri:noRegion>Kawasaki</wicri:noRegion></affiliation></author><author><name sortKey="Isidor, B" sort="Isidor, B" uniqKey="Isidor B" first="B." last="Isidor">B. Isidor</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHU Nantes, Service de Génétique Médicale, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Perrier, J" sort="Perrier, J" uniqKey="Perrier J" first="J." last="Perrier">J. 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Dalal</name><affiliation wicri:level="1"><country xml:lang="fr">Inde</country><wicri:regionArea>Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad</wicri:regionArea><wicri:noRegion>Hyderabad</wicri:noRegion></affiliation></author><author><name sortKey="Al Indy, A" sort="Al Indy, A" uniqKey="Al Indy A" first="A." last="Al-Kindy">A. Al-Kindy</name><affiliation wicri:level="1"><country xml:lang="fr">Oman</country><wicri:regionArea>Department of Genetics, Sultan Qaboos University Hospital, Muscat</wicri:regionArea><wicri:noRegion>Muscat</wicri:noRegion></affiliation></author><author><name sortKey="Liebelt, J" sort="Liebelt, J" uniqKey="Liebelt J" first="J." last="Liebelt">J. Liebelt</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide</wicri:regionArea><wicri:noRegion>North Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Mowat, D" sort="Mowat, D" uniqKey="Mowat D" first="D." last="Mowat">D. Mowat</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Medical Genetics, Sydney Children's Hospital and the School of Women's and Children's Health, University of New South Wales, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Nakashima, M" sort="Nakashima, M" uniqKey="Nakashima M" first="M." last="Nakashima">M. Nakashima</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama</wicri:regionArea><wicri:noRegion>Yokohama</wicri:noRegion></affiliation></author><author><name sortKey="Saitsu, H" sort="Saitsu, H" uniqKey="Saitsu H" first="H." last="Saitsu">H. Saitsu</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama</wicri:regionArea><wicri:noRegion>Yokohama</wicri:noRegion></affiliation></author><author><name sortKey="Miyake, N" sort="Miyake, N" uniqKey="Miyake N" first="N." last="Miyake">N. Miyake</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama</wicri:regionArea><wicri:noRegion>Yokohama</wicri:noRegion></affiliation></author><author><name sortKey="Matsumoto, N" sort="Matsumoto, N" uniqKey="Matsumoto N" first="N." last="Matsumoto">N. Matsumoto</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama</wicri:regionArea><wicri:noRegion>Yokohama</wicri:noRegion></affiliation><affiliation></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Japon</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">85</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="548">548</biblScope><biblScope unit="page" to="554">554</biblScope><biblScope unit="page-count">7</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2014-06">2014-06</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Coffin–Siris syndrome (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. We previously reported that five genes are mutated in CSS, all of which encode subunits of the switch/sucrose non‐fermenting (SWI/SNF) ATP‐dependent chromatin‐remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B. In this study, we examined 49 newly recruited CSS‐suspected patients, and re‐examined three patients who did not show any mutations (using high‐resolution melting analysis) in the previous study, by whole‐exome sequencing or targeted resequencing. We found that SMARCB1, SMARCA4, or ARID1B were mutated in 20 patients. By examining available parental samples, we ascertained that 17 occurred de novo. All mutations in SMARCB1 and SMARCA4 were non‐truncating (missense or in‐frame deletion) whereas those in ARID1B were all truncating (nonsense or frameshift deletion/insertion) in this study as in our previous study. Our data further support that CSS is a SWI/SNF complex disorder.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Inde</li><li>Japon</li><li>Oman</li></country><region><li>Nouvelle-Galles du Sud</li><li>Pays de la Loire</li></region><settlement><li>Nantes</li><li>Sydney</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Tsurusaki, Y" sort="Tsurusaki, Y" uniqKey="Tsurusaki Y" first="Y." last="Tsurusaki">Y. Tsurusaki</name></noRegion><name sortKey="Fukuda, M" sort="Fukuda, M" uniqKey="Fukuda M" first="M." last="Fukuda">M. Fukuda</name><name sortKey="Makita, Y" sort="Makita, Y" uniqKey="Makita Y" first="Y." last="Makita">Y. Makita</name><name sortKey="Matsumoto, N" sort="Matsumoto, N" uniqKey="Matsumoto N" first="N." last="Matsumoto">N. Matsumoto</name><name sortKey="Matsumoto, N" sort="Matsumoto, N" uniqKey="Matsumoto N" first="N." last="Matsumoto">N. Matsumoto</name><name sortKey="Matsumoto, N" sort="Matsumoto, N" uniqKey="Matsumoto N" first="N." last="Matsumoto">N. Matsumoto</name><name sortKey="Miyake, N" sort="Miyake, N" uniqKey="Miyake N" first="N." last="Miyake">N. Miyake</name><name sortKey="Mizuno, S" sort="Mizuno, S" uniqKey="Mizuno S" first="S." last="Mizuno">S. Mizuno</name><name sortKey="Nakashima, M" sort="Nakashima, M" uniqKey="Nakashima M" first="M." last="Nakashima">M. Nakashima</name><name sortKey="Ohashi, H" sort="Ohashi, H" uniqKey="Ohashi H" first="H." last="Ohashi">H. Ohashi</name><name sortKey="Okamoto, N" sort="Okamoto, N" uniqKey="Okamoto N" first="N." last="Okamoto">N. Okamoto</name><name sortKey="Saitsu, H" sort="Saitsu, H" uniqKey="Saitsu H" first="H." last="Saitsu">H. Saitsu</name></country><country name="France"><region name="Pays de la Loire"><name sortKey="Isidor, B" sort="Isidor, B" uniqKey="Isidor B" first="B." last="Isidor">B. Isidor</name></region><name sortKey="Perrier, J" sort="Perrier, J" uniqKey="Perrier J" first="J." last="Perrier">J. Perrier</name></country><country name="Inde"><noRegion><name sortKey="Aggarwal, S" sort="Aggarwal, S" uniqKey="Aggarwal S" first="S." last="Aggarwal">S. Aggarwal</name></noRegion><name sortKey="Dalal, A B" sort="Dalal, A B" uniqKey="Dalal A" first="A. B." last="Dalal">A. B. Dalal</name></country><country name="Oman"><noRegion><name sortKey="Al Indy, A" sort="Al Indy, A" uniqKey="Al Indy A" first="A." last="Al-Kindy">A. Al-Kindy</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Liebelt, J" sort="Liebelt, J" uniqKey="Liebelt J" first="J." last="Liebelt">J. Liebelt</name></noRegion><name sortKey="Mowat, D" sort="Mowat, D" uniqKey="Mowat D" first="D." last="Mowat">D. Mowat</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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