A utilização do sequenciamento do exoma para diagnóstico do Transtorno do Espectro Autista (TEA) não sindrômico: uma revisão bibliográfica

Abstract

With the advancement of research, the understanding and relationship between genetics and
autism spectrum disorder (ASD) has been expanded, which is clinically understood as a set of
conditions that are represented by the impairment of social behavior. Currently, the clinical
scenario for diagnoses is still considered a challenge because there is no definitive test.
Although ASD has multifactorial causes, which is the main obstacle to its diagnosis, genetics is
a potential influencing agent, with hundreds of candidate genes. These genes are often
responsible for actions in the nervous system, and the occurrence of a genetic variant can
influence its functioning. Given this, this work aims to carry out a literature review of the use of
whole exome sequencing for the diagnosis of ASD cases with a focus on non-syndromic
conditions, debating its benefits as well as limitations and perspectives. A bibliographic review
of scientific articles was performed with the keywords: ASD, whole exome sequencing and next
generation sequencing, non-syndromic ASD. The research gathered here elaborates and
reinforces the importance of using DNA sequencing for research and diagnosis of autism or
other conditions that may be affected by it.