SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability

Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. Epub 2012 Sep 25.


Heterozygous germline mutations in components of switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complexes were recently identified in patients with non-syndromic intellectual disability, Coffin-Siris syndrome and Nicolaides-Baraitser syndrome. The common denominator of the phenotype of these patients is severe intellectual disability and speech delay. Somatic and germline mutations in SWI/SNF components were previously implicated in tumor development. This raises the question whether patients with intellectual disability caused by SWI/SNF mutations in the germline are exposed to an increased risk of developing cancer. Here we compare the mutational spectrum of SWI/SNF components in intellectual disability syndromes and cancer, and discuss the implications of the results of this comparison for the patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromatin Assembly and Disassembly
  • Chromosomal Proteins, Non-Histone / genetics*
  • Face / abnormalities
  • Facies
  • Foot Deformities, Congenital / genetics*
  • Genes, Switch
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Hypotrichosis / genetics*
  • Intellectual Disability / genetics*
  • Language Development Disorders / genetics
  • Micrognathism / genetics*
  • Neck / abnormalities
  • Neoplasms / genetics*
  • Transcription Factors / genetics*


  • Chromosomal Proteins, Non-Histone
  • Transcription Factors

Supplementary concepts

  • Coffin-Siris syndrome
  • Nicolaides Baraitser syndrome