Estudo de variações de número de cópias (CNVs) em pacientes com transtorno do espectro autista na cidade de Salvador (BA)

Abstract

Introduction: Autism Spectrum Disorder (ASD) is a group of conditions characterized by changes in social behavior, in communication and in language, and a restricted, stereotyped and repetitive repertoire. As it has become increasingly present in our world’s reality, discovering this disorder’s development causes is increasingly important. ASD has a multifactorial origin, with genetic factors associated with copy number variations (CNVs), one of the aspects that have been the study’s object in order to elucidate idiopathic cases. The Objective: To study the CNVs found in patients with ASD, seeking to identify genes that explain their etiology. Materials and Methods: A convenience sampling, a nonprobability sampling was used. Eighty patients were analyzed from May 1 to October 15, 2019. The CNVs found were analyzed in the public CNVs banks, and the genes were evaluated in the STRING and SFARI databases. Results: Twenty altered cases were observed, in which 7 CNVs were pathogenic and 13 CNVs were of uncertain significance (VOUS). Conclusion:The CNVs analysis, based on STRING and SFARI, allowed to identify genes associated with ASD and to reclassify CNVs VOUS regarding their relationship with ASD.