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Genetic Variations Identified in Autism Spectrum Disorders

Scientists implicate rare genetic variations in autism

THURSDAY, June 10 (HealthDay News) -- An international team of researchers has identified genetic variants, both inherited and unique, in the DNA of people with autism spectrum disorders (ASD). The findings, published online June 9 in Nature, may be helpful in early diagnosis and treatment of autism, according to the researchers.

Dalila Pinto, Ph.D., of the Hospital for Sick Children in Toronto, and colleagues conducted a genetic analysis of 996 people with ASD and 1,287 matched controls to determine the presence of copy number variants (CNVs) across the genomes of the two respective populations.

The researchers found that the individuals with ASD carried more CNVs, particularly those for loci with an established association with mental disability and/or ASD, than the control group. They also found that CNVs disrupt gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signaling pathways in people with ASD.

"Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways," the authors conclude.

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