PUBLIC RELEASE DATE:

29-Oct-2014

Contact: Anastasia Greenebaum agreenebaum@simonsfoundation.org 212-524-6097 Simons Foundation

A genetic autism study of unprecedented scope and power has uncovered more than two-dozen high-confidence risk genes for the disorder. It offers compelling evidence that spontaneous, or de novo, mutations contribute to autism in at least 27 percent of families in which the parents and siblings are unaffected.

The new research has also established conclusively that 'higher-IQ' autism, which mostly affects boys, has a different genetic basis from 'lower-IQ' autism, which commonly affects both boys and girls.

The researchers, whose findings will be published by Nature on 29 October, 2014, at http://dx.doi.org/10.1038/nature13908, sequenced the whole exomes the protein-coding regions of the genome of 2,515 families from the Simons Simplex Collection, a large repository of genetic, biological and phenotypic data from 'simplex' families, which consist of one child with autism, unaffected parents and usually at least one unaffected sibling.

The study, carried out at three different universities across the country, pinpointed seven genes that have mutations in three or more children with autism, implicating these genes in the disorder with near certainty. It also identified another 20 genes with mutations in two children. Each of these genes has more than a 90 percent chance of being a true autism gene, the researchers reported in their paper, 'The contribution of de novo coding mutations to autism spectrum disorder.'

"We have a set of genes for which now, if people see a likely gene-disrupting mutation when sequencing a young child, there's a high risk of the child developing autism, and that, to my mind, is pretty powerful stuff," says Evan Eichler of the University of Washington, a Simons Foundation Autism Research Initiative (SFARI) Investigator who leads one of the laboratories that contributed to the study. "Recognizing this early on may allow for earlier interventions, such as behavioral therapies, improving outcomes in children."

The exome analysis was also carried out in the laboratories of SFARI Investigators Michael Wigler of Cold Spring Harbor Laboratory in New York and Matthew State of the University of California, San Francisco.

Although the researchers at the three different universities might be assumed to be competitors, in an unusual move they have published the results of their exome-sequencing studies in a single joint paper. "That seemed to us to make the most sense scientifically, though not from the standpoint of getting credit," Eichler says. "We felt that it would create the biggest benefit for the community of autism researchers."

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Autism's genetic architecture comes into focus

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