{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:18:05Z","timestamp":1791173885838,"version":"4.1.0"},"reference-count":82,"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"}],"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>This issue of Seminars in Medical Genetics, <jats:italic>American Journal of Medical Genetics<\/jats:italic> Part C investigates the human diseases caused by mutations in the BAF complex (also known as the mammalian SWI\/SNF complex) genes, particularly focusing on Coffin\u2013Siris syndrome (CSS). CSS is a rare congenital malformation syndrome characterized by developmental delay or intellectual disability (ID), coarse facial appearance, feeding difficulties, frequent infections, and hypoplasia\/aplasia of the fifth fingernails and fifth distal phalanges. In 2012, 42 years after the first description of CSS in 1970, five causative genes (<jats:italic>SMARCB1<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, <jats:italic>SMARCA4<\/jats:italic>, <jats:italic>ARID1A<\/jats:italic>, <jats:italic>ARID1B<\/jats:italic>), all encoding components of the BAF complex, were identified as being responsible for CSS through whole exome sequencing and pathway\u2010based genetic screening. The identification of two additional causative genes (<jats:italic>PHF6<\/jats:italic>, <jats:italic>SOX11<\/jats:italic>) followed. Mutations in another BAF complex gene (<jats:italic>SMARCA2<\/jats:italic>) and (<jats:italic>TBC1D24)<\/jats:italic> were found to cause clinically similar conditions with ID, Nicolaides\u2013Baraitser syndrome and DOORS syndrome, respectively. Also, <jats:italic>ADNP<\/jats:italic> was found to be mutated in an autism\/ID syndrome. Furthermore, there is growing evidences for germline or somatic mutations in the BAF complex genes to be causal for cancer\/cancer predisposition syndromes. These discoveries have highlighted the role of the BAF complex in the human development and cancer formation. The biology of BAF is very complicated and much remains unknown. Ongoing research is required to reveal the whole picture of the BAF complex in human development, and will lead to the development of new targeted therapies for related disorders in the future. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31415","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T16:41:03Z","timestamp":1409244063000},"page":"241-251","source":"Crossref","is-referenced-by-count":106,"title":["Coffin\u2013Siris syndrome and related disorders involving components of the BAF (mSWI\/SNF) complex: Historical review and recent advances using next generation sequencing"],"prefix":"10.1002","volume":"166","author":[{"given":"Tomoki","family":"Kosho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John 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