Copy number variants in autism spectrum disorders

Our cohort comprised 40 non-syndromic ASD children.We conducted genome wide analysis using Affymetrix Cytoscan-HD microchips. We identified pathogenic CNVs in 7 patients (17.5%), other variant classified as variants of uncertain significance (VUS) or benign. Our design of the project aimed to identify and assess CNVs and their associated gene impacts in Egyptian ASD patients. Correlate the pathological CNVs to the ASD diagnostic parameters. Also we aimed to identify if ASD with pathological CNVs has certain clinical manifestations in comparison to other ASD patients.