Role of NRXN-NLGN-SHANK pathway gene variations in the pathogenesis of autism spectrum disorders / 中华医学遗传学杂志

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.