Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

  • Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.
Yoshinori Tsurusaki  1 ,  Nobuhiko Okamoto ,  Hirofumi Ohashi ,  Tomoki Kosho ,  Yoko Imai ,  Yumiko Hibi-Ko ,  Tadashi Kaname ,  Kenji Naritomi ,  Hiroshi Kawame ,  Keiko Wakui ,  Yoshimitsu Fukushima ,  Tomomi Homma ,  Mitsuhiro Kato ,  Yoko Hiraki ,  Takanori Yamagata ,  Shoji Yano ,  Seiji Mizuno ,  Satoru Sakazume ,  Takuma Ishii ,  Toshiro Nagai ,  Masaaki Shiina ,  Kazuhiro Ogata ,  Tohru Ohta ,  Norio Niikawa ,  Satoko Miyatake ,  Ippei Okada ,  Takeshi Mizuguchi ,  Hiroshi Doi ,  Hirotomo Saitsu ,  Noriko Miyake ,  Naomichi Matsumoto
Affiliations
  • 1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
PMID: 22426308 DOI: 10.1038/ng.2219
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.