Molecular and Genetic Mechanisms in Autism Spectrum Disorder

Abstract

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by deficits in social communication and interaction and the presence of repetitive and restricted behaviors. ASDs are clinically and genetically heterogeneous with hundreds of genes identified through large-scale whole exome and genome sequencing studies contributing to risk. Recent studies are beginning to illuminate shared mechanisms across ASD-associated genes at the molecular, cellular, circuit, and behavioral levels, identifying neurogenesis and excitatory-inhibitory neuron development as points of biological convergence. These functional analyses of ASD genes provide substantial promise for gaining a deeper understanding of ASD pathophysiology and elucidating novel therapeutic targets. ANN NEUROL 2025;98:1163–1177.