Patterns and Rates of Exonic De Novo Mutations in Autism Spectrum Disorders

Published April 4, 2012 in Nature

Results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors.