Abstract
Recent studies have found that hundreds of genetic variants, including common and rare variants, rare and de novo mutations, and common polymorphisms contribute to the occurrence of autism spectrum disorders (ASDs). The mutations in a number of genes such as neurexin, neuroligin, postsynaptic density protein 95, SH3, and multiple ankyrin repeat domains 3 (SHANK3), synapsin, gephyrin, cadherin, and protocadherin, thousand-and-one-amino acid 2 kinase, and contactin, have been shown to play important roles in the development and function of synapses. In addition, synaptic receptors, such as gamma-aminobutyric acid receptors and glutamate receptors, have also been associated with ASDs. This review will primarily focus on the defects of synaptic proteins and receptors associated with ASDs and their roles in the pathogenesis of ASDs via synaptic pathways.
Highlights
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders characterized by social communication deficits and stereotyped behaviors with restricted interests (American Psychiatry Association [APA], 2013)
During the past 70 years, the definition of autism has developed as understanding of the disorder increased. It was first introduced as infantile autism in the official diagnostic nomenclature in the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III), was referred to as Pervasive Developmental Disorders (PDD) in DSM-IV and was defined as ASDs in the latest revision of the DSM, DSM-V (American Psychiatry Association [APA], 2013), which was published in May 2013
Many genes associated with ASDs play roles in the development and function of synapses, such as neuroligin 3 (NLGN3), NLGN4X, neurexin 1 (NRXN1), and SH3, and multiple ankyrin repeat domains 3 (SHANK3)
Summary
Reviewed by: Enrico Cherubini, International School for Advanced Studies, Italy Annalisa Scimemi, SUNY Albany, USA. Recent studies have found that hundreds of genetic variants, including common and rare variants, rare and de novo mutations, and common polymorphisms contribute to the occurrence of autism spectrum disorders (ASDs). The mutations in a number of genes such as neurexin, neuroligin, postsynaptic density protein 95, SH3, and multiple ankyrin repeat domains 3 (SHANK3), synapsin, gephyrin, cadherin, and protocadherin, thousandand-one-amino acid 2 kinase, and contactin, have been shown to play important roles in the development and function of synapses. Synaptic receptors, such as gamma-aminobutyric acid receptors and glutamate receptors, have been associated with ASDs.This review will primarily focus on the defects of synaptic proteins and receptors associated with ASDs and their roles in the pathogenesis of ASDs via synaptic pathways
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
