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More Gene Mutations Linked to Autism Risk
Date:6/26/2009

can, Ph.D., professor of Genetics at the University of Pennsylvania School of Medicine and Chair of the Steering committee for Autism Speaks' Autism Genetic Resource Exchange (AGRE). "We are grateful to families of children with autism spectrum disorders for their willingness to participate in genetic studies because family-based studies have many advantages. We have learned a lot both from genetic analyses of children with autism as well as analyses of their patents and their unaffected siblings."

The researchers compared genetic samples of 3,832 individuals from 912 families with multiple children with ASDs from the AGRE cohort against genetic samples of 1,070 disease-free children from The Children's Hospital of Philadelphia. This study also uncovered two novel genes in which variations were found, BZRAP1 and MDGA2 - thought to be important in synaptic function and neurological development, respectively. Interestingly, key variants of these genes were transmitted in some, but not all, of the affected individuals in families.

The findings were published in the June 26 edition of the journal PloS Genetics.

By further refining the genetic landscape of ASDs, the current study expands the findings of two large autism gene studies published in April, led by Hakonarson and co-authored by Gerard Schellenberg, Ph.D., professor of Pathology and Laboratory Medicine at the University of Pennsylvania School of Medicine, Bucan and others. One study was the first to report common gene variants in ASDs. The other identified copy number variants that raise the risk of having an ASD. Both studies found gene changes on two biological pathways with crucial roles in early central nervous system development. Hakonarson and Bucan said the latest findings reinforce the view that multiple gene variants, both common and rare, may be interacting to cause the heterogeneous group of disorders inclu
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SOURCE The Children's Hospital of Philadelphia
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