{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:45:10Z","timestamp":1790401510221,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,7,23]],"date-time":"2013-07-23T00:00:00Z","timestamp":1374537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,6]]},"abstract":"Coffin\u2013Siris syndrome (CSS<\/jats:styled-content>) 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<\/jats:styled-content>, all of which encode subunits of the switch\/sucrose non\u2010fermenting (SWI<\/jats:styled-content>\/SNF<\/jats:styled-content>) ATP<\/jats:styled-content>\u2010dependent chromatin\u2010remodeling complex: SMARCB1<\/jats:styled-content><\/jats:italic>, SMARCA4<\/jats:styled-content><\/jats:italic>, SMARCE1<\/jats:styled-content><\/jats:italic>, ARID1A<\/jats:styled-content><\/jats:italic>, and ARID1B<\/jats:styled-content><\/jats:italic>. In this study, we examined 49 newly recruited CSS<\/jats:styled-content>\u2010suspected patients, and re\u2010examined three patients who did not show any mutations (using high\u2010resolution melting analysis) in the previous study, by whole\u2010exome sequencing or targeted resequencing. We found that SMARCB1<\/jats:styled-content><\/jats:italic>, SMARCA4<\/jats:styled-content><\/jats:italic>, or ARID1B<\/jats:styled-content><\/jats:italic> were mutated in 20 patients. By examining available parental samples, we ascertained that 17 occurred de novo<\/jats:italic>. All mutations in SMARCB1<\/jats:styled-content><\/jats:italic> and SMARCA4<\/jats:styled-content><\/jats:italic> were non\u2010truncating (missense or in\u2010frame deletion) whereas those in ARID1B<\/jats:styled-content><\/jats:italic> were all truncating (nonsense or frameshift deletion\/insertion) in this study as in our previous study. Our data further support that CSS<\/jats:styled-content> is a SWI<\/jats:styled-content>\/SNF<\/jats:styled-content> complex disorder.<\/jats:p>","DOI":"10.1111\/cge.12225","type":"journal-article","created":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T17:45:32Z","timestamp":1372700732000},"page":"548-554","source":"Crossref","is-referenced-by-count":133,"title":["Coffin\u2013Siris syndrome is a SWI<\/scp>\/SNF<\/scp> complex disorder"],"prefix":"10.1111","volume":"85","author":[{"given":"Y.","family":"Tsurusaki","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Saitama Children's Medical Center Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Central Hospital Aichi Human Service Center Kasugai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asahikawa Medical University Asahikawa Medical University Asahikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Makita","sequence":"additional","affiliation":[{"name":"Education Center Asahikawa Medical University Asahikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Fukuda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics St. Marianna University School of Medicine Kawasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Isidor","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Perrier","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de P\u00e9diatrie Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.B.","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Al\u2010Kindy","sequence":"additional","affiliation":[{"name":"Department of Genetics Sultan Qaboos University Hospital Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Liebelt","sequence":"additional","affiliation":[{"name":"South Australian Clinical Genetics Service SA Pathology at Women's and Children's Hospital North Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Mowat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Sydney Children's Hospital and the School of Women's and Children's Health University of New South Wales Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,23]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and 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