自闭症谱系障碍(Autism spectrum disorder, ASD)是一类常见神经发育疾病，以社会交往障碍、刻板重复行为与狭隘的兴趣为主要临床特征。在过去40年间，ASD患病率呈不断上升趋势，因而日益受到人们关注。近年来由于大规模外显子测序的应用，发现了许多新的 ASD 易感基因。这些易感基因富集在几个共同的遗传信号通路中，参与突触形成和染色质重构等。最新的动物模型研究表明，ASD 的发病机制包括神经突触可塑性异常和神经回路兴奋性−抑制性平衡紊乱。本文从ASD遗传病因的高度异质性、众多致病基因突变影响的共同生物学过程以及遗传诊断方法和药物研发的进展等几个方面进行了综述，以期帮助人们深入了解 ASD 的遗传基础和转化研究现状。%Autism spectrum disorders (ASDs) are common neurodevelopmental disorders characterized by impaired social communication, restricted and repetitive behavior or interests. Over the past 40 years, the reported prevalence for ASDs has been steadily rising world-wide. Due to the application of large-scale exome sequencing in recent years, hundreds of novel ASD associated genes have been identified. These associated genes are enriched in several common genetic signaling pathways such as synapse formation and chromatin remodeling. Intensive studies in animal models have revealed abnormal synaptic plasticity and an imbalanced ratio of excitatory to inhibitory neurotransmission in neural circuits of ASD brains. In this review, we summarize recent advances in (1) genetic heterogeneity of ASDs, (2) molecular pathways disturbed by various genetic mutations in ASDs, and (3) the development of genetic diagnostics and pharmacological treatments for ASDs. This review aims to provide a brief overview of the genetic basis of ASDs and prospects for diagnosis and treatment for ASDs.
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