Genetic Contributions to Autism Spectrum Disorder: A Review of Recent Advances

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with a multifactorial origin and significant genetic contribution. It is characterized by difficulties in social interaction, communication, and the presence of repetitive behaviors, often associated with comorbidities such as intellectual disability and Attention Deficit Hyperactivity Disorder (ADHD). This integrative review analyzed articles published in the last five years to explore relevant genes related to ASD and neurodevelopment. Genes such as MYT1L, ZNF292, AUTS2, and regulatory genes involved in the production of microRNAs were highlighted, demonstrating their relationship with critical processes such as neurogenesis and synaptogenesis. Genes such as FGFR2 and KMT5B have been strongly associated with neurodevelopmental disorders, including autism and ADHD, underscoring their importance in understanding the genetic basis of these conditions. Additionally, the identification of specific variants, such as PTEN p.Ile135Leu, and their relationship with changes in neurogenesis, neural maturation, and synaptic function highlights the need for more in-depth studies on the molecular pathways regulating these genes expression. The findings reinforce the genetic heterogeneity of ASD and suggest potential targets for personalized therapies within the context of precision medicine. However, the importance of incorporating epigenetic and environmental factors into analyses is emphasized to achieve a more comprehensive understanding of gene-environment interactions and their clinical implications.