title: Recent progresses in molecular genetics of autism spectrum disorders.
abstract: 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.
authors.affiliation: State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhao
authors.affiliation: College of Biological Sciences, China Agricultural University, Beijing 100193, China.
authors.forename: Yong-chao
authors.initials: YC
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
authors.forename: Yong-qing
authors.initials: YQ
authors.lastname: Zhang
mesh_terms: D000818:Animals; D002659:Child Development Disorders, Pervasive / Q000188:drug therapy / Q000235:genetics*; D042002:Chromatin Assembly and Disassembly; D056915:DNA Copy Number Variations; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009473:Neuronal Plasticity