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Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.

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

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  • 1Department 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.

PMID:
22426308
[PubMed - indexed for MEDLINE]
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