{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T03:39:21Z","timestamp":1791257961847,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T00:00:00Z","timestamp":1409184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"the Japanese Ministry of Health, Labour and Welfare","award":["26070201"],"award-info":[{"award-number":["26070201"]}]}],"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) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the BAF complex. To date, 109 patients have been reported with their mutations: <jats:italic>SMARCB1<\/jats:italic> (12%), <jats:italic>SMARCA4<\/jats:italic> (11%), <jats:italic>SMARCE1<\/jats:italic> (2%), <jats:italic>ARID1A<\/jats:italic> (7%), <jats:italic>ARID1B<\/jats:italic> (65%), and <jats:italic>PHF6<\/jats:italic> (2%). We review genotype\u2010phenotype correlation of all previously reported patients with mutations in <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>SMARCA4<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, and <jats:italic>ARID1A<\/jats:italic> through reassessment of their clinical and molecular findings. Cardinal features of CSS included variable degrees of intellectual disability (ID) predominantly affecting speech, sucking\/feeding difficulty, and craniofacial (thick eyebrows, long eyelashes), digital (hypoplastic 5th fingers or toes, hypoplastic 5th fingernails or toenails), and other characteristics (hypertrichosis). In addition, patients with <jats:italic>SMARCB1<\/jats:italic> mutations had severe neurodevelopmental deficits including severe ID, seizures, CNS structural abnormalities, and no expressive words as well as scoliosis. Especially, those with a recurrent mutation \u201cp.Lys364del\u201d represented strikingly similar phenotypes including characteristic facial coarseness. Patients with <jats:italic>SMARCA4<\/jats:italic> mutations had less coarse craniofacial appearances and behavioral abnormalities. Patients with <jats:italic>SMARCE1<\/jats:italic> mutations had a wide spectrum of manifestations from severe to moderate ID. Patients with <jats:italic>ARID1A<\/jats:italic> also had a wide spectrum of manifestations from severe ID and serous internal complications that could result in early death to mild ID. Mutations in <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>SMARCA4<\/jats:italic>, and <jats:italic>SMARCE1<\/jats:italic> are expected to exert dominant\u2010negative or gain\u2010of\u2010function effects, whereas those in <jats:italic>ARID1A<\/jats:italic> are expected to exert loss\u2010of\u2010function effects. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31407","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T16:44:49Z","timestamp":1409244289000},"page":"262-275","source":"Crossref","is-referenced-by-count":161,"title":["Genotype\u2010phenotype correlation of Coffin\u2010Siris syndrome caused by mutations in <i>SMARCB1<\/i>, <i>SMARCA4<\/i>, <i>SMARCE1<\/i>, and <i>ARID1A<\/i>"],"prefix":"10.1002","volume":"166","author":[{"given":"Tomoki","family":"Kosho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Coffin\u2010Siris Syndrome International Collaborators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,28]]},"reference":[{"key":"e_1_2_5_2_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_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010215)99:1<1::AID-AJMG1127>3.0.CO;2-A"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0801802105"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.003"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35933"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.5.338"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2217"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.22299"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_5_11_1","article-title":"Genotype\u2010phenotype correlation \u2010ARID1B\u2010related CSS and ARID1B\u2010related ID syndrome","author":"Santen GW","year":"2014","journal-title":"Am J Med Genet Part C"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1054\/bjoc.2000.1583"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35415"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12225"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt366"},{"key":"e_1_2_5_17_1","article-title":"Genotype\u2010phenotype correlation \u2013PHF6\u2010related CSS and Borjeson\u2010Forssman\u2010Lehmann syndrome","author":"Wieczorek D","year":"2014","journal-title":"Am J Med Genet Part C"}],"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.31407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T12:43:33Z","timestamp":1694609013000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,28]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1002\/ajmg.c.31407"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31407","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,28]]}}}