De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

ABSTRACT: Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of m

SUBMITTER: Sanders SJ 

PROVIDER: S-EPMC3667984 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature