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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome |
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| Authors: | Tsurusaki Yoshinori Okamoto Nobuhiko Ohashi Hirofumi Kosho Tomoki Imai Yoko Hibi-Ko Yumiko Kaname Tadashi Naritomi Kenji Kawame Hiroshi Wakui Keiko Fukushima Yoshimitsu Homma Tomomi Kato Mitsuhiro Hiraki Yoko Yamagata Takanori Yano Shoji Mizuno Seiji Sakazume Satoru Ishii Takuma Nagai Toshiro Shiina Masaaki Ogata Kazuhiro Ohta Tohru Niikawa Norio Miyatake Satoko Okada Ippei Mizuguchi Takeshi Doi Hiroshi Saitsu Hirotomo Miyake Noriko Matsumoto Naomichi |
| Institution: | Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. |
| 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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