Autism genetics: Strategies, challenges, and opportunities

Brian J. O'Roak, Matthew W. State

Research output: Contribution to journalReview articlepeer-review

102 Scopus citations


Although genes have long been appreciated to play a critical role in determining the risk for pervasive developmental disorders, the specific transcripts contributing to autism spectrum disorders (ASD) have been quite difficult to characterize. However, recent findings are now providing the first insights into the molecular mechanisms underlying these syndromes and have begun to shed light on the allelic architecture of ASD. In this article, we address what is known about the relative contributions of various types of genetic variation to ASD, consider the obstacles facing gene discovery in this complex disorder, and evaluate the common methodologies employed to address these issues, including linkage, molecular and array-based cytogenetics, and association strategies. We review the current literature, highlighting recent findings implicating both rare mutations and common genetic polymorphisms in the etiology of autism. Finally, we describe key advances in genomic technologies that are transforming all areas of human genetics and consider both the opportunities and challenges for autism research posed by these rapid changes.

Original languageEnglish (US)
Pages (from-to)4-17
Number of pages14
JournalAutism Research
Issue number1
StatePublished - 2008
Externally publishedYes


  • Association
  • Autism
  • Gene discovery
  • Genetics
  • Linkage

ASJC Scopus subject areas

  • General Neuroscience
  • Clinical Neurology
  • Genetics(clinical)


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