Genomics of autism spectrum disorders

Abstract Autism spectrum disorder (ASD) is a panoply of different diseases that share a set of common behavioral traits, specifically social communication deficits, and repetitive and fixed/rigid functional patterns. The application of diagnostic technologies over the past 50 years resulted initially in the association of chromosomal mutations, and subsequently, in single gene defects and copy number variations (NCV) of the genome, and most recently, in variations in the whole genome sequence, resulting in the elucidation of syndromic and nonsyndromic ASD. At present, more than 800 gene mutations and 2300 CNVs have been associated with the pathophysiology of ASD. Contemporary research has focused on attempts to identify unifying molecular pathways (networks) to explain common behavior patterns among these different ASDs. These approaches are based on the postulation that synaptic transmission is aberrant, and that this phenomenon is initiated during fetal development, and results from an alteration of synaptic transmission, and cell synaptic formation and function, leading to altered brain connectivity.