2. Academic Validation
  3. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

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

Affiliation

  • 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.

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