Troubles du spectre autistique : qu’apprend-on de la génétique ?

Abstract

Autism spectrum disorders (ASD) are a heterogeneous group of pervasive neurodevelopmental disorders affecting 1% of the population. The diagnosis of ASD is based on impairments in reciprocal social communication and stereotyped behaviors. It is now understood that autism symptoms can be caused either by gene mutations or by chromosomal aberrations. In the last years, various independent studies and large-scale international efforts have identified rare variants, copy number variants (CNVs) and single nucleotide variants (SNVs) associated with ASD and suggested a set of mechanisms that could underlie the ASD phenotype. In this review, we present the main rare variants associated with ASD as well as early findings on the identification of common variants as risk factors. A better characterization of the genetic and phenotypic heterogeneity of ASD will help to understand the epistasis between the rare and common variants.