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.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cells, Cultured
  • Chromosomal Proteins, Non-Histone / genetics
  • DNA Copy Number Variations / genetics
  • DNA Helicases / genetics
  • DNA-Binding Proteins / genetics
  • Exome
  • Face / abnormalities
  • Female
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Micrognathism / genetics*
  • Mutation, Missense
  • Neck / abnormalities
  • Nuclear Proteins / genetics
  • SMARCB1 Protein
  • Sequence Analysis, DNA
  • Transcription Factors / genetics

Substances

  • ARID1A protein, human
  • ARID1B protein, human
  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • Nuclear Proteins
  • SMARCA2 protein, human
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • SMARCE1 protein, human
  • Transcription Factors
  • SMARCA4 protein, human
  • DNA Helicases

Supplementary concepts

  • Coffin-Siris syndrome