Abstract
Background Autism Spectrum Disorders (ASD) are neurodevelopmental disorders that share difficulties in communication, social interactions and stereotyped behaviors. ASD has a heritability of 64 – 91% and near 10% of ASD patients have large chromosomal rearrangements. Copy Number Variations (CNVs), a type of chromosomal rearrangements contributes to genomic disorders by disrupting functional genes, promoting loss of heterozygosity, disturbing imprinting regulation and changing gene expression by inherited, de novo and post-zygotic ways. Chromosomal Microarray Analysis (CMA) is the standard genetic assessment used to evaluated intellectual disabilities and developmental delays, however careful interpretation of these results is essential for a correct genetic diagnosis. Methods We analyzed 22 DNA samples by SNP 6.0 microarray of Affymetrix, and .CEL files were calling with PennCNV software. To identify disrupted genes probably associated with ASD; we used 115 .CEL data files of Colombian population from public resources as 1000 Genomes Project. Careful consultation of public databases such as UCSC genome Browser, DECIPHER and DGV was performed to determine if our results had been previously linked to neurodevelopmental disorders. Results These analysis strategies led us to identify CNVs that disrupt known functional genes previously associated with ASD in 15 of 22 (68%) patients diagnosed with ASD. Among these probably pathogenic CNVs we found deletions and duplications from 50Kb – 5 Mb that disrupted 1 or more genes simultaneously. The main affected functions by disrupted genes present in our patients were: DNA replication and reparation (CSNK1E), early development (NOTCH3), transcription regulation (MYT1L), vesicle transport (VPS13B), neuronal connections (SHANK3), metabolic process (GMPPA and PITPNA), cell-cell contact (DLG5), and neurotransmitter transporter (SLC6A3), among others. Discussion These results demonstrate the importance of studying these developmental disorders with high-throughput techniques and enrichment public databases to advance in the etiology knowledge of these disorders.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
