biostudies-literatureUnknown7(8)Bitar THigher Center for Research - Holy Spirit University of KaslikConseil National de la Recherche Scientifique au Liban<h4>Background</h4>There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these disorders have not been totally explored.<h4>Methods</h4>Thus, the aim of our work was to identify rare CNVs and genes present in these regions in ASD children, using a high-resolution comparative genomic hybridization technique and quantitative PCR (qPCR) approach.<h4>Results</h4>Our results have shown 60-70 chromosomal aberrations per patient. We have initially selected 66 CNVs that have been further assessed using qPCR. Finally, we have validated 22 CNVs including 11 deletions and 11 dupliMolecular genetics & genomic medicinee786https://www.ebi.ac.uk/biostudies/studies/S-EPMC6687626biostudies-literatureIdentification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders.PMC6687626Marouillat SVonwill SHleihel WSoufia MVourc'h PBitar TVuillaume MLAndres CRLaumonnier FfalseIdentification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders.<h4>Background</h4>There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations. However, despite all the findings, the genetics of these disorders have not been totally explored.<h4>Methods</h4>Thus, the aim of our work was to identify rare CNVs and genes present in these regions in ASD children, using a high-resolution comparative genomic hybridization technique and quantitative PCR (qPCR) approach.<h4>Results</h4>Our results have shown 60-70 chromosomal aberrations per patient. We have initially selected 66 CNVs that have been further assessed using qPCR. Finally, we have validated 22 CNVs including 11 deletions and 11 dupli2019-01-01T00:00:00Z2019 Aug2026-05-07T18:24:47.177Z2026-04-07T23:12:45.904ZS-EPMC66876263125437510.1002/mgg3.786