Autism spectrum disorder in the genetics clinic: a review

Clin Genet. 2013 May;83(5):399-407. doi: 10.1111/cge.12101. Epub 2013 Feb 21.


Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders affecting social communication, language and behavior. The underlying cause(s) in a given individual is often elusive, with the exception of clinically recognizable genetic syndromes with readily available molecular diagnosis, such as fragile X syndrome. Clinical geneticists approach patients with ASDs by ruling out known genetic and genomic syndromes, leaving more than 80% of families without a definitive diagnosis and an uncertain risk of recurrence. Advances in microarray technology and next-generation sequencing are revealing rare variants in genes with important roles in synapse formation, function and maintenance. This review will focus on the clinical approach to ASDs, given the current state of knowledge about their complex genetic architecture.

Publication types

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

MeSH terms

  • Child
  • Child Development Disorders, Pervasive / diagnosis*
  • Child Development Disorders, Pervasive / genetics*
  • Chromosome Aberrations
  • Genetic Counseling
  • Genetic Testing
  • Humans
  • Microarray Analysis
  • Mutation
  • PTEN Phosphohydrolase / genetics
  • Recurrence


  • PTEN Phosphohydrolase