Identification of disease risk variants in neurotransmission and synaptic genes in Autism Spectrum Disorder

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder which affects the brain structure and the proper establishment of the neuronal connectivity. The criteria of diagnosis are the presence of social communication deficits and restricted, repetitive patterns of behavior. ASD has a strong genetic component but, despite the reports of putative risk genes, the genetics underlying the disease is still incompletely understood. One hypothesis supported by strong genomic and functional evidence is that neurotransmission and synaptic biological processes are altered in ASD. Objective: The main objective of this work is to identify Single Nucleotide Variants (SNVs) in neurotransmission and synaptic genes (NS genes) that may play a role in ASD etiology.

Keywords

Autism Spectrum Disorder Neurodevelopmental Disorder Single Nucleotide Variants (SNVs) Synaptic Genes (NS genes) Perturbações do Desenvolvimento Infantil e Saúde Mental