A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder

Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this disorder is highly heterogeneous. This disorder is associated with both inheritable and de novo mutations in several genes. In addition to genetic loci that are identified through early karyotype analyses, recent advent of high throughput sequencing methods has facilitated identification of several genetic loci that confer risk of ASD. The current review provides an overview of different types of identified mutations including missense and nonsense mutations and copy number variations in various genes in individuals affected with ASD.

Automated summary

Autism spectrum disorder (ASD) is a common neurodevelopmental disease, affecting approximately 1 in 59 individuals. The disorder is genetically heterogeneous, with both inheritable and de novo mutations in several genes playing a role. The review discusses the different types of mutations, including missense and nonsense mutations, as well as copy number variations, found in individuals affected by ASD.