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儿童孤独症是发生在婴幼儿时期的由多种生物因素引起的广泛性大脑发育障碍。病因复杂,其中遗传变异起到关键作用。识别致病基因为能更清楚地认识该疾病的神经生物学基础提供了一条更合理的途径。不少学者在孤独症谱系障碍(ASD)候选基因中进行了单核苷酸多态性(SNPs)、突变、拷贝数变异(CNVs)的研究。最近研究显示,NRXN基因家族中影响突触功能的2p16.3上轴突蛋白基因(NRXN1)在ASD患儿中频繁出现,提示该基因家族功能异常对孤独症的形成具有重要意义。本文将对NRXN1基因变异在突触对神经发育性疾病中的作用的研究进展做一综述。
Autism in children is a wide range of brain development disorders caused by a variety of biological factors that occur in infancy. The cause is complex, of which genetic variation plays a key role. Identifying pathogenic genes provides a more rational way to better understand the neurobiology of the disease. Many scholars have studied single nucleotide polymorphisms (SNPs), mutations, copy number variation (CNVs) in autism spectrum disorder (ASD) candidate genes. Recent studies have shown that the 2x16.3 axon protein gene (NRXN1) that affects synapses in the NRXN gene family is frequently found in children with ASD, suggesting that dysfunction of this gene family is important for the development of autism. This article reviews the role of NRXN1 gene mutation in synaptic development in neurodevelopmental diseases.