孤独症是儿童期常见的重性精神疾病之一，遗传度高达90%。本研究针对孤独症的遗传病因这一亟待解决的关键问题，运用脑磁共振成像技术，提取多模态影像在不同水平上发现的脑网络连接表征，结合认知功能和临床指标，并以此作为疾病表型；采用对神经突触发育相关基因进行外显子测序的方法，对病例和对照人群突触发育相关基因的蛋白编码区进行测序分析，分析孤独症患者神经突触发育相关基因的少见突变位点对孤独症患病风险、脑网络连接及认知功能的影响，为揭示ASD分子遗传机制提供理论依据。

Autism spectrum disorders (ASD), with the heritability as high as 90 percent, is one of the common severe mental disorders in children. The purpose of our study is to solve the key issue about the genetic etiology of ASD. In the current research, it defines the phenotype of ASD, which combines the characterizations of the brain networks in different levels extracted from multi-modal images with the brain magnetic resonance imaging technology, and cognitive function and clinical indicators. Meanwhile, it explores the genes about development and plasticity of the nerve synapses with the exon sequencing method, compares the sequences related gene protein coding regions between the cases and control subjects, and analyses how the rare mutations has had influences on the risk of the disease prevalence, brain network connections and cognition function. The current study provides a theoretical basis to reveal the molecular genetic mechanisms of ASD.