title: Genetics of autism spectrum disorder: an update on copy number variations leading to autism in the next generation sequencing era.
abstract: Autism spectrum disorder (ASD) is a large group of neurodevelopmental conditions that share common characteristics such as social and language impairment and repetitive and stereotypic behaviors. It is reported that ASD is on increase in recent years reaching ratios up to 1 in 68 children. The disease is seen four times more frequently in males than females. ASD is heritable with complex inheritance and genetic heterogeneity, and frequently coexists with other diseases such as intellectual disability, seizure disorders, and fragile-x. Recent advances in genomic technologies have led to a greater understanding of genetic mechanisms in ASD, discovery of novel genetic loci and risk factors, as well as submicroscopic chromosomal changes also known as copy number variations (CNVs). Here we review recent developments in the genetics field and hereditary and sporadic CNVs leading to ASD.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
authors.forename: Maysoon
authors.initials: M
authors.lastname: AlSagob
authors.affiliation: Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
authors.forename: Dilek
authors.initials: D
authors.lastname: Colak
authors.affiliation: Department of Genetics and Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
authors.forename: Namik
authors.initials: N
authors.lastname: Kaya
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics*; D002877:Chromosomes, Human / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans