Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Yoshinori Tsurusaki1, Nobuhiko Okamoto, Hirofumi Ohashi
1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nature Genetics
|March 20, 2012
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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