American Journal of Medical and Clinical Sciences. 2023;
8(4):(98-125)
Validating Clinical Exome Sequencing (CES) Test for Copy Number Variation (CNV) Analysis in Patients with Autism Spectrum Disorder
Katia Margiotti, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino.
Abstract
A routine methodologies to detect germline copy number variants (CNVs) are ArrayCGH,
and SNParray, while clinical exome sequencing (CES) it is not a standard methods used in
clinical settings. This study aims to investigate the efficiency of CNVs identification by CES
in the diagnosis of Autism spectrum disorder (ASD) based on a Italian cohort. In this cohort
study, 50 patients with ASD diagnosis were recruited for ASD screening. Simultaneous CNVs
and single nucleotide variation (SNV) analysis was conducted to identify the anomalies that
can cause ASD phenotype. A total of 13 patients were identified with a causative CNVs
among 15 (86.67%) SNP array positive patients. Showing that CES data can be used for
detecting clinically relevant CNVs with high sensitivity for use in clinical diagnostic settings.
