Autism spectrum disorder (ASD) is a neuronal developmental disorder that is characterized by de⁃fects both in social interaction and verbal communication

and is often accompanied by restricted interest

and repeti⁃tive and stereotyped behaviors. The prevalence of ASD is approximately 0.8%~1.2% in China. Although its etiology remains unclear in most cases

over 1 000 genes or genomic loci have been linked to its pathogenic origin

indicating a strong genetic influence

as well as complicated pathogenic mechanisms. Here

we reviewed recent findings in the possible genetic effects on synaptic pathophysiology of ASD

and a particular focus was put on variants in genes that are related to synaptic morphology or functions

such as FMR1

NRXN

NLGN

SHANK and MeCP2. The synaptic pathology caused by these genetic defects may substantially contribute to the pathogenesis of ASD. This review out⁃lines several lines of evidence that have been recently reported to support the hypothesis that a genetic defect may lead to a synaptic pathology that may underlie the pathogenesis of ASD.