Role of Genetic Mutations in Development of Autism Spectrum Disorder
Autism Spectrum Disorder (ASD) is a highly heritable neurodevelopmental disorder characterized clinically by repetitive stereotyped behaviors, restricted interests, and impaired social and communication skills and it is defined as a developmental disorder. In the past years, autism was confused with other monogenic disorders because the findings were similar. However, with the development of technology over the years, there have been many studies in the field of autism. Recent studies show that there are rare variants of autism as well as small-effect gene variants. Rare variants have more impact than known variants. The discovery of rare variants challenges traditional diagnostic boundaries and demonstrates the heterogeneity of autism. Studies on twins have proven that autism is one of the most common inherited disorders. In addition, it has been observed that the heritability rate of autism is lower in dizygotic twins compared to monozygotic twins. Based on the microarray, deletion, and duplication analysis, single-molecule fluorescence hybridization methods, various mosaic mutations, microdeletions, microduplications, and mutations in Cytoplasmic FMR1-Interacting Protein 1 (CYFIP1), NIPA Magnesium Transporter 2 (NIPA2), and Ubiquitin protein ligase E3A (UBE3A) genes were found in autism. As a result of research not conducted at the molecular level, a broad spectrum of autism with mild symptoms has been found in families of individuals with autism. The likelihood of autism recurring due to various mutations is not known. Therefore, a genetic counselor should be consulted when planning a family. In summary, this review explains in detail how autism has been shaped by recent studies.