Genetics of autism spectrum disorder

Abstract

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impaired social interaction and stereotyped behaviors. ASD has a strong and complex genetic component, with multiple familial inheritance patterns and an estimate of up to 1000 genes potentially implicated. Over the past decade, genomic technologies have enabled rapid progress in the identification of risk genes for ASD. In this chapter, we review the delineation of ASD disease genes starting from traditional genetic studies such as linkage and association, and then focusing on more recent studies utilizing genomic technologies, such as high-throughput genotyping and exome sequencing.

Keywords: autism risk genes; autism spectrum disorder; copy number variation; de novo mutations; genome-wide association study; whole-exome sequencing; whole-genome sequencing.