Variabilidades gênicas no transtorno do espectro autista

Abstract

The Autism Spectrum Disorder (ASD) is a multifactorial neuropsychiatric condition characterized by deficits in communication, social interaction, and restrictive and repetitive behavior patterns. The etiology of the disorder involves neurobiological and genetic factors, with emphasis on de novo mutations and rare inherited variants that affect processes such as synaptogenesis and the regulation of gene expression. In light of this reality, this study is based on investigating the genetic variabilities present in ASD through a narrative review, with a qualitative approach, using bibliographic and electronic information sources. The data indicate the current involvement of 134 (one hundred and thirty-four) genes such as FOXP1, SYNGAP1, SHANK3, CHD8, SCN2A, among others, which are related to brain development and/or synaptic functionality, reinforcing the genetic heterogeneity of the disorder. Manifestations arising from genetic alterations such as random mutations, copy number variations, single nucleotide polymorphisms, deletions, and duplications can affect brain areas responsible for language, behavior, social interaction, and learning, helping to clarify why some individuals are born with symptomatic characteristics of ASD. The identification of these genetic intercurrences across the different support levels of the spectrum through accurate diagnoses enables the development of more effective and personalized intervention strategies. It also promotes significant advances in genetic counseling and translational research, paving the way for a promising future in which early diagnosis and treatment become routine in the implementation of national public health policies.