{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T13:58:29Z","timestamp":1789912709357,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mutations in the components of the SWItch\/sucrose nonfermentable (SWI\/SNF)\u2010like chromatin remodeling complex have recently been reported to cause Coffin\u2013Siris syndrome (CSS), Nicolaides\u2013Baraitser syndrome (NCBRS), and <jats:italic>ARID1B<\/jats:italic>\u2010related intellectual disability (ID) syndrome. We detail here the genotype\u2010phenotype correlations for 85 previously published and one additional patient with mutations in the SWI\/SNF complex: four with <jats:italic>SMARCB1<\/jats:italic> mutations, seven with <jats:italic>SMARCA4<\/jats:italic> mutations, 37 with <jats:italic>SMARCA2<\/jats:italic> mutations, one with an <jats:italic>SMARCE1<\/jats:italic> mutation, three with <jats:italic>ARID1A<\/jats:italic> mutations, and 33 with <jats:italic>ARID1B<\/jats:italic> mutations. The mutations were associated with syndromic ID and speech impairment (severe\/profound in <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, and <jats:italic>ARID1A<\/jats:italic> mutations; variable in <jats:italic>SMARCA4<\/jats:italic>, <jats:italic>SMARCA2<\/jats:italic>, and <jats:italic>ARID1B<\/jats:italic> mutations), which was frequently accompanied by agenesis or hypoplasia of the corpus callosum. <jats:italic>SMARCB1<\/jats:italic> mutations caused \u201cclassical\u201d CSS with typical facial \u201ccoarseness\u201d and significant digital\/nail hypoplasia. <jats:italic>SMARCA4<\/jats:italic> mutations caused CSS without typical facial coarseness and with significant digital\/nail hypoplasia. <jats:italic>SMARCA2<\/jats:italic> mutations caused NCBRS, typically with short stature, sparse hair, a thin vermillion of the upper lip, an everted lower lip and prominent finger joints. A <jats:italic>SMARCE1<\/jats:italic> mutation caused CSS without typical facial coarseness and with significant digital\/nail hypoplasia. <jats:italic>ARID1A<\/jats:italic> mutations caused the most severe CSS with severe physical complications. <jats:italic>ARID1B<\/jats:italic> mutations caused CSS without typical facial coarseness and with mild digital\/nail hypoplasia, or caused syndromic ID. Because of the common underlying mechanism and overlapping clinical features, we propose that these conditions be referred to collectively as \u201cSWI\/SNF\u2010related ID syndromes\u201d. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35933","type":"journal-article","created":{"date-parts":[[2013,5,2]],"date-time":"2013-05-02T05:34:21Z","timestamp":1367472861000},"page":"1221-1237","source":"Crossref","is-referenced-by-count":98,"title":["Clinical correlations of mutations affecting six components of the <scp>SWI<\/scp>\/<scp>SNF<\/scp> complex: Detailed description of 21 patients and a review of the literature"],"prefix":"10.1002","volume":"161","author":[{"given":"Tomoki","family":"Kosho","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Saitama Children's Medical Center Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Imai","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Japanese Red Cross Medical Center Tokyo 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California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Sakazume","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Koshigaya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuma","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Koshigaya Japan"},{"name":"Nakagawa\u2010No\u2010Sato (Hospital for the Disabled) Matsubushi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital Koshigaya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tohru","family":"Ohta","sequence":"additional","affiliation":[{"name":"Research Institute of Personalized Health Sciences Health Sciences University of Hokkaido 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