1. ¹Department of Psychiatry, University of Chicago, Chicago, IL, USA
2. ²Departments of Psychiatry, Pediatrics, and Human Genetics, University of Chicago, Chicago, IL, USA

Correspondence: EH Cook Jr, MD, MC 3077, University of Chicago, 5841 S. Maryland Avenue, Chicago, IL 60637, USA. E-mail: ed@yoda.bsd.uchicago.edu

Received 4 September 2003; Revised 20 January 2004; Accepted 4 February 2004; Published online 15 June 2004.

Abstract

We are on the brink of exciting discoveries into the molecular genetic underpinnings of autism spectrum disorder. Overwhelming evidence of genetic involvement coupled with increased societal attention to the disorder has drawn in more researchers and more research funding. Autism is a strongly genetic yet strikingly complex disorder, in which evidence from different cases supports chromosomal disorders, rare single gene mutations, and multiplicative effects of common gene variants. With more and more interesting yet sometimes divergent findings emerging every year, it is tempting to view these initial molecular studies as so much noise, but the data have also started to coalesce in certain areas. In particular, recent studies in families with autism spectrum disorder have identified uncommon occurrences of a novel genetic syndrome caused by disruptions of the NLGN4 gene on chromosome Xp22. Previous work had identified another uncommon syndrome that is caused by maternal duplications of the chromosome 15q11–13 region. We highlight other converging findings, point toward those areas most likely to yield results, and emphasize the contributions of multiple approaches to identifying the genes of interest.