Abstract:Autism spectrum disorder(ASD) is a group of highly heterogeneous neurodevelopmental disorders. Genetic factor plays an important role in the pathogenesis, explaining the pathogeny in 25%-35% of children, however, the genetic mechanism is still unclear. Molecular genetics studies have found common and rare copy number or single nucleotide variants in ASD. Mutated genes encoded proteins affect early brain development and interfere with neuronal connections, synaptic formation and function, which may be its pathological mechanism