Characterization of INDELs and small CNVs in patients with autism spectrum disorder

Abstract

The Autism Spectrum Disorder (ASD) is a common neuropsychiatric disorder characterized by significant and persistent deficits in communication/social interaction, and repetitive and restricted patterns of behavior, interests or activities. The ASD has a complex etiology in which genetic factors play a significant role. With the recent advances in genomic analysis technologies, it has become clear that, within the genetic factors, Copy Number Variations (CNVs) represent one of the most important. Within this context, and after checking that small CNVs remain little studied and characterized in regard to this disorder, this project aims to study the correlation between small CNVs (<50kb) and ASD. The verification of this correlation will be done through the use of two genomic analysis tools: a) analysis of the data obtained from the hybridization of DNA from patients with ASD and controls in a custom slide of microarray Comparative Genomic Hybridization (aCGH), previously standardized at the Laboratory of Developmental Genetics - USP b) analysis of the data from these same patients obtained by Next Generation Sequencing of the exome (NGS). If it is shown that ASD patients exhibit an enrichment of small variations compared to control group, this study may contribute to a better insight into the etiology of ASD as well as for the establishment of a complementary tool for a more effective diagnosis. (AU)