{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T16:17:16Z","timestamp":1784564236832,"version":"3.55.0"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,7,31]],"date-time":"2014-07-31T00:00:00Z","timestamp":1406764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Research Grants from the Japanese Ministry of Health, Labour and Welfare"},{"DOI":"10.13039\/501100002241","name":"the Japan Science and Technology Agency","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"crossref"}]},{"name":"a Grant for 2011 Strategic Research Promotion of Yokohama City University"},{"name":"a Grant-in-Aid for Scientific Research from the Japan Society for the Promotion of Science"},{"name":"a Grant-in-Aid for Scientific Research on Innovative Areas (Transcription cycle) from the Ministry of Education, Culture, Sports, Science and Technology of Japan"},{"name":"a Grant-in-Aid for Young Scientists from the Japan Society for the Promotion of Science"},{"name":"the Strategic Research Program for Brain Sciences"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Coffin\u2013Siris syndrome (CSS; OMIM#135900) is a rare congenital anomaly syndrome characterized by intellectual disability, coarse face, hypertrichosis, and absence\/hypoplasia of the fifth digits' nails. As the majority of patients are sporadic, an autosomal dominant inheritance model has been postulated. Recently, whole exome sequencing (WES) emerged as a comprehensive analytical method for rare variants. We applied WES on five CSS patients and found two de novo mutations in <jats:italic>SMARCB1<\/jats:italic>. <jats:italic>SMARCB1<\/jats:italic> was completely sequenced in 23 CSS patients and the mutations were found in two more patients. As <jats:italic>SMARCB1<\/jats:italic> encodes a subunit of the BAF complex functioning as a chromatin remodeling factor, mutations in 15 other subunit genes may cause CSS and thus were analyzed in 23 CSS patients. We identified heterozygous mutations in either of six genes (<jats:italic>SMARCA4<\/jats:italic>, <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>SMARCA2<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, <jats:italic>ARID1A<\/jats:italic>, and <jats:italic>ARID1B<\/jats:italic>) in 20 out of 23 CSS patients. The patient with a <jats:italic>SMARCA2<\/jats:italic> mutation was re\u2010evaluated and identified as having Nicolaides\u2013Baraitser syndrome (OMIM#601358), which is similar to but different from CSS. Additionally, 49 more CSS patients were analyzed as a second cohort. Together with the first cohort, 37 out of 71 (22 plus 49) patients were found to have a mutation in either one of five BAF complex genes. Furthermore, two CSS patients were reported to have a <jats:italic>PHF6<\/jats:italic> abnormality, which can also cause Borjeson\u2013Forssman\u2013Lehmann syndrome (OMIM#301900), an X\u2010linked intellectual disability syndrome with epilepsy and endocrine abnormalities. The current list of mutated genes in CSS is far from being complete and analysis of more patients is required. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31406","type":"journal-article","created":{"date-parts":[[2014,7,31]],"date-time":"2014-07-31T18:13:01Z","timestamp":1406830381000},"page":"257-261","source":"Crossref","is-referenced-by-count":34,"title":["Numerous BAF complex genes are mutated in Coffin\u2013Siris syndrome"],"prefix":"10.1002","volume":"166","author":[{"given":"Noriko","family":"Miyake","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120320027005"},{"key":"e_1_2_7_3_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalanx","volume":"119","author":"Coffin GS","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.005"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01755.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2011.32"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01074.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2899"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.007"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg1803s66"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35933"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.138115.112"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1040"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08250"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3413"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2217"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35415"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1486"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1325"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142727.mb0701s81"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_7_25_1","article-title":"Coffin\u2010Siris syndrome is a SWI\/SNF complex disorder","author":"Tsurusaki Y","year":"2013","journal-title":"Clin Genet"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1105"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt366"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3068"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31406","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T12:43:30Z","timestamp":1694609010000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,31]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1002\/ajmg.c.31406"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31406","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,31]]}}}