Genetic mutation in autism identified

PARIS (UPI) -- The gene called SHANK3 is mutated in a small number of individuals with autism, according to researchers at the Pasteur Institute in Paris.

Thomas Bourgeron and colleagues at the Pasteur Institute sequenced SHANK3 in more than 200 individuals with autism spectrum disorder, or ASD, and found mutations in three families.

An individual in one family had a significant deletion in the gene, while two brothers in a second family had a smaller deletion. In the third family, a girl with autism had a deletion in SHANK3, while her brother, affected with a mild form of autism called Asperger syndrome, had an additional copy of SHANK3.

The protein encoded by SHANK3 interacts with other proteins called neuroligins, which have a role in neuronal signaling. Mutations in two of the genes encoding neuroligins have previously been found in a small number of individuals with autism, suggesting that neuroligin function should receive increased attention in the search for the biological basis of ASD.

The findings are published in the January issue of Nature Genetics.