Gene mutations, autism risk linked

PHILADELPHIA, June 26 (UPI) -- U.S. researchers say they identified 27 different genetic regions where missing or extra DNA segments were found in children with autism syndrome disorders.

The researchers analyzed genetic samples of 3,832 people in the Autism Genetic Resources Exchange as well as genetic samples of 1,070 disease-free children from The Children's Hospital of Philadelphia.

Maja Bucan of the University of Pennsylvania School of Medicine in Philadelphia and colleagues found two novel genes -- BZRAP1 and MDGA2 -- thought to be important in synaptic function and neurological development, respectively. The researchers said key variants of these genes were transmitted in some, but not all, of the affected individuals in families.

"We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome and we suspect that different combinations of these variations contribute to autism susceptibility," Bucan, who is also head of the AGRE steering committee, said in a statement. "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 findings are published in PloS Genetics.