Current developments in the genetics of autism: From phenome to genome

Molly Losh*, Patrick F. Sullivan, Dimitri Trembath, Joseph Piven

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

76 Scopus citations

Abstract

Despite compelling evidence from twin and family studies indicating a strong genetic involvement in the etiology of autism, the unequivocal detection of autism susceptibility genes remains an elusive goal. The purpose of this review is to evaluate the current state of autism genetics research, with attention focused on new techniques and analytic approaches. We first present a brief overview of evidence for the genetic basis of autism, followed by an appraisal of linkage and candidate gene study findings and consideration of new analytic approaches to the study of complex psychiatric conditions, namely, genome-wide association studies, assessment of structural variation within the genome, and the incorporation of endophenotypes in genetic analysis.

Original languageEnglish (US)
Pages (from-to)829-837
Number of pages9
JournalJournal of neuropathology and experimental neurology
Volume67
Issue number9
DOIs
StatePublished - Sep 2008

Keywords

  • Autism
  • Copy number variation (CNV)
  • Endophenotype
  • Genetic

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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