title: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
abstract: By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit of the SWItch/Sucrose NonFermenting (SWI/SNF) complex, we screened 15 other genes encoding subunits of this complex in 23 individuals with CSS. Twenty affected individuals (87%) each had a germline mutation in one of six SWI/SNF subunit genes, including SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A and ARID1B.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Yoko
authors.initials: Y
authors.lastname: Imai
authors.forename: Yumiko
authors.initials: Y
authors.lastname: Hibi-Ko
authors.forename: Tadashi
authors.initials: T
authors.lastname: Kaname
authors.forename: Kenji
authors.initials: K
authors.lastname: Naritomi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawame
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Tomomi
authors.initials: T
authors.lastname: Homma
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hiraki
authors.forename: Takanori
authors.initials: T
authors.lastname: Yamagata
authors.forename: Shoji
authors.initials: S
authors.lastname: Yano
authors.forename: Seiji
authors.initials: S
authors.lastname: Mizuno
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.forename: Takuma
authors.initials: T
authors.lastname: Ishii
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Masaaki
authors.initials: M
authors.lastname: Shiina
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Ogata
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohta
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Satoko
authors.initials: S
authors.lastname: Miyatake
authors.forename: Ippei
authors.initials: I
authors.lastname: Okada
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D059472:Exome; D005145:Face / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008844:Micrognathism / Q000235:genetics*; D020125:Mutation, Missense; D009333:Neck / Q000002:abnormalities; D009687:Nuclear Proteins / Q000235:genetics; D000071796:SMARCB1 Protein; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics
chemical_list: C112476:ARID1A protein, human; C497837:ARID1B protein, human; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C084011:SMARCA2 protein, human; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; C504738:SMARCE1 protein, human; D014157:Transcription Factors; C084108:SMARCA4 protein, human; D004265:DNA Helicases