Genetic advances in autism: heterogeneity and convergence on shared pathways

Curr Opin Genet Dev. 2009 Jun;19(3):271-8. doi: 10.1016/j.gde.2009.04.004. Epub 2009 May 26.


The autism spectrum disorders (ASD) are a heterogeneous set of developmental disorders characterized at their core by deficits in social interaction and communication. Current psychiatric nosology groups this broad set of disorders with strong genetic liability and multiple etiologies into the same diagnostic category. This heterogeneity has challenged genetic analyses. But shared patient resources, genomic technologies, more refined phenotypes, and novel computational approaches have begun to yield dividends in defining the genetic mechanisms at work. Over the last five years, a large number of autism susceptibility loci have emerged, redefining our notion of autism's etiologies, and reframing how we think about ASD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Autistic Disorder / genetics*
  • Autistic Disorder / pathology
  • Epigenesis, Genetic
  • Gene Regulatory Networks
  • Genetic Heterogeneity*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Models, Genetic
  • Signal Transduction / genetics*