Role of NRXN-NLGN-SHANK pathway gene variations in the pathogenesis of autism spectrum disorders.

VernacularTitle:NRXN-NLGN-SHANK通路基因变异在自闭症谱系障碍发病机制中的作用
Author: Longkai HE ¹ ; Xiaoping LIU ; Yanyan SONG ; Yaping TANG
Author Information

1. Pediatric Research Institute, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong 510623, China. yptang12@126.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2018;35(5):753-756
CountryChina
Language:Chinese
Abstract: Autism spectrum disorders (ASDs) comprise a group of common neurodevelopmental disorders whose pathogenesis remains unclear. More than 100 genes have been associated with ASDs, some of which have shown to play important roles in the development and function of synapses, a crucial step of information transmission between neurons. Studies have found abnormalities in synaptic transmission, density, and structures in the brains of autistic patients. NRXN-NLGN-SHANK pathway has been associated with synaptic function of the brain, and its primary role is to regulate synaptic formation, elimination, plasticity and maturation. Genes including NRXN, NLGN, SHANK, and PSD95 are involved in the NRXN-NLGN-SHANK pathway. Mutations of such genes may lead to dysfunction of the pathway and ASDs-related phenotypes found in patients and animal models. This paper has provided a review for the research progress made on the mutations of NRXN-NLGN-SHANK pathway related genes and their roles in the pathogenesis of ASDs.