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Researchers Find Gene Mutations That May Be a Key to Autism
Date:4/4/2012

By Carina Storrs
HealthDay Reporter

WEDNESDAY, April 4 (HealthDay News) -- Genetic mutations that arise spontaneously, as opposed to being passed through generations, could play an important role in the development of autism, new research suggests.

Three research teams sequenced the genes of children with sporadic autism, meaning it did not run in their families, and compared the sequences with those of their parents and siblings. Their results were published in three separate articles on April 4 in the journal Nature.

"We found that 15 to 20 percent of sporadic patients could be explained by 'de novo' [or spontaneous] mutations," said Evan Eichler, professor of genome sciences at the University of Washington in Seattle, who led one of the studies.

Overall, the researchers identified hundreds of spontaneous mutations in gene sequences that they predicted would upset the function of the genes in the children with autism. Most of them were only found in single patients.

The good news, according to Eichler, is that the multitude of affected genes seems to belong to just a handful of pathways -- involved in, for example, development or cognition. That suggests that mutations in a diverse set of genes could have a similar biological effect.

"This kind of investigation is of tremendous value for understanding the genetic architecture of risk for autism," said Andy Shih, vice president of scientific affairs at Autism Speaks, a national advocacy group.

"We can probably explain genetic risk factors that might lead to autism in less than 30 percent of the population" from previous research, Shih added.

Autism spectrum disorders, which include both mild and serious forms of autism, affect one in 88 children in the United States, according to just-updated statistics from the U.S. Centers for Disease Control and Prevention.

The study led by Eichler involved 677 individuals representing 20
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