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A genome-wide search for autism genes in the Simons Simplex Collection

Matthew State, M.D., Ph.D.
Yale University

Arthur Beaudet, M.D.
Baylor College of Medicine

Edwin Cook, Jr., M.D.
University of Illinois at Chicago

Bernard Devlin, Ph.D.
University of Pittsburgh

Daniel Geschwind, M.D., Ph.D.
University of California, Los Angeles

16p11.2 are the most common chromosomal change seen in individuals with autism.  State and his multisite team of investigators also showed that girls with autism carry evidence of more profound genetic risks, suggesting that they are protected from autism when carrying less serious mutations that would lead to autism in boys.

The collaborative group of investigators conducted a series of other investigations using microarray data from the SSC. They found evidence that sequence changes common in the general population also carry risk for autism, though the individual effects are still too small to identify specific risk genes. They identified a possible new metabolic risk for autism through the identification of mutations in the gene THMLE. And the group showed that reports of increased head size in children with autism, and other specific mutations, need to be reevaluated, taking into account the head sizes of the parents. Lastly, they showed that recessive mutations, in addition to spontaneous mutations, play a role in autism risk.

Award #: 124827