The molecular genetics of autism

Autism is a severe neurodevelopmental disorder characterized by communication and social deficits and by stereotyped, repetitive behaviors. The syndrome of autism is highly heritable, is considered to be etiologically heterogeneous and is thought to be the result of multiple, interacting genes. It is more common than previously thought, and has a complex pattern of genetic transmission. From four recently completed genome-wide linkage screens of autism, distal 7q has emerged as the most prominent chromosomal region of interest. Additional support for 7q comes from autistic individuals with gross 7q cytologic abnormalities, and from linkage and association data in families with language and speech disorders. Chromosome 15q11-13 is also of interest because of numerous reports of macroscopic and molecular abnormalities in the region associated with Prader-Willi and Angelman syndromes. In this review, molecular aspects of these data, as well as future avenues of investigation, are discussed.