Another Rare Mutation in Autism Spectrum Disorders

Patients with autism spectrum disorders (ASDs) present with a broad range of severity in social and communicative skills and behavioral flexibility, associated with variable sensorimotor and cognitive abilities and, often, epilepsy. Possible causes include numerous Mendelian and mitochondrial genetic defects and acquired prenatal and early environmental effects — e.g., infectious, toxic, malformative, and other damaging influences — on the immature brain. But in most individuals, the basis of autism remains unknown and presumably multigenic. In several families with ASDs, these authors identified mutations in the SHANK3 gene, a postsynaptic dendritic gene located on chromosome 22q13.

The authors identified three distinct heterozygous abnorma…