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Gene mutation contributes to autism

LOS ANGELES, April 6 (UPI) -- U.S. researchers estimate there are likely about 1,000 or more genes that contribute to autism spectrum disorder risk, but mutations might be the key.

Dr. Daniel Geschwind, a professor of neurology and psychiatry at the University of California, Los Angeles, and colleagues from Yale University, Carnegie Mellon University and the University of Pittsburgh, completed "whole-exome sequencing" of 238 parent-child quartets.

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A quartet is defined as two parents and one child without autism spectrum disorder and one child with autism spectrum disorder. Whole-exome sequencing is an efficient strategy to sequence the coding regions of the genome selectively, as a cheaper but still effective alternative to whole genome sequencing.

The researchers compared mutation rates between unaffected individuals and those with autism spectrum disorder within a family, and then compared autism spectrum disorder mutations to the entire study.

They found multiple variations between unaffected and affected groups. Specifically, among a total of 279 coding mutations, they identified a single instance in individual children with autism spectrum disorder -- and not in siblings -- in which two independent mutations disrupt the gene SCN2A.

That same mutation was found in all the unrelated children with autism spectrum disorder, confirming its importance.

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The study was published in the journal Nature.

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