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Study Highlights Autism’s Genetic Complexity

Last Updated: June 29, 2009.

A study comparing genetic samples of autistic and normal children has identified 27 different genetic regions where missing or extra copies of DNA segments may interfere with gene function and impair neurological development, according to a study in the June 26 issue of PloS Genetics.

MONDAY, June 29 (HealthDay News) -- A study comparing genetic samples of autistic and normal children has identified 27 different genetic regions where missing or extra copies of DNA segments may interfere with gene function and impair neurological development, according to a study in the June 26 issue of PloS Genetics.

Maja Bucan, Ph.D., of the University of Pennsylvania, and colleagues compared genetic samples of 3,832 individuals from 912 families with children with autism spectrum disorders from the Autism Genetic Resource Exchange with genetic samples from a control group of 1,070 children without autism.

The researchers found 27 different genetic regions with rare copy number variations (missing or extra copies of DNA segments) in the genes of children with autism, but not in the control group. The researchers also identified two previously unreported genes with variations, BZRAP1 and MDGA2, which are thought to regulate synaptic function and neurological development, respectively. The researchers note that the findings again highlight the large number of genes that apparently are involved in the development of autism.

"More work in a larger number of individuals will be required to determine which of the rare alleles highlighted here are indeed related to the autism spectrum disorders and how they act to shape risk," the authors conclude.

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