Autism Spectrum Disorder

Autism spectrum disorder (ASD), one of the most genetically heterogeneous neuropsychiatric disorders, exhibits rare de novo and inherited variants in over 700 genes. The societal burden of ASD is debilitating with profound economic liabilities exceeding those of cancer, stroke, and heart disease combined. This chapter provides an overview of ASD genetics and its complexity, an understanding which has been attained through advances in genomics and statistical genetics. We begin by discussing the contribution of chromosomal abnormalities and copy number variants to ASD and subsequently reviewing syndromic ASD genes. Following a discussion of nonsyndromic ASD, arising from de novo and inherited rare single nucleotide variants, we conclude with a discussion of current methods in molecular diagnosis and the promise of merging genomics, statistical genetics, and clinical informatics for designing individualized treatment in a disorder with a complex genetic architecture.