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Open Access Review

The ongoing dissection of the genetic architecture of autistic spectrum disorder

Rob F Gillis1 and Guy A Rouleau23*

Author Affiliations

1 Department of Human Genetics, McGill University, Montreal QC, H3A2T5, Canada

2 Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de l'Université de Montréal Research Center and Department of Medicine, Université de Montréal, Montréal, QC H2L 2W5, Canada

3 Department of Medicine, Université de Montréal, Montréal, QC, H2L 2W5, Canada

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Molecular Autism 2011, 2:12  doi:10.1186/2040-2392-2-12

Published: 8 July 2011

Abstract

The development of robust, non-hypothesis based case/control studies has led to a large push forward towards identifying common genetic variants that contribute to complex traits. However, despite many attempts, the search for common disease-predisposing variants in childhood developmental disorders has largely failed. Recently, a role for rare causal variants and de novo mutations is emerging in the genetic architecture of some of these disorders, particularly those that incur a large degree of selection against the phenotype. In this paper, we examine these data and use classic genetic epidemiological approaches to gain insights into the genetic architecture of ASD. Future studies using next generation sequencing should elucidate the precise role de novo mutations play in disorders traditionally thought to have resulted from polygenic or common disease, common variants inheritance.