The role of de novo mutations in the genetics of autism spectrum disorders

Nat Rev Genet. 2014 Feb;15(2):133-41. doi: 10.1038/nrg3585. Epub 2014 Jan 16.


The identification of the genetic components of autism spectrum disorders (ASDs) has advanced rapidly in recent years, particularly with the demonstration of de novo mutations as an important source of causality. We review these developments in light of genetic models for ASDs. We consider the number of genetic loci that underlie ASDs and the relative contributions from different mutational classes, and we discuss possible mechanisms by which these mutations might lead to dysfunction. We update the two-class risk genetic model for autism, especially in regard to children with high intelligence quotients.

Publication types

  • Review

MeSH terms

  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / psychology
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Intelligence
  • Male
  • Models, Genetic*
  • Mutation*
  • Sex Factors