The Relationship Between Genetic Mutations and Autism Spectrum Disorder: A Comprehensive Review

الملخص

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with multiple genetic and environmental contributing factors. However, recent studies highlight the significant role of gene mutations in its development. This study aimed to analyze the relationship between gene mutations and ASD by reviewing recent scientific literature, focusing on genes associated with brain function and synapses. The research employed a descriptive-analytical approach, analyzing a range of studies published in reputable scientific databases that addressed the impact of inherited mutations, de novo mutations, and copy number variations (CNVs) on neurodevelopment. The reviewed literature indicates that several genes, including CHD8, SHANK3, SCN2A, SYNGAP1, CNTNAP2, RELN, and MTHFR, have been studied for their role in neuronal development, neuronal signaling, and synaptic function.  Genetic alterations affecting these pathways may contribute to disruptions in neural communication and imbalances between excitatory and inhibitory signals, potentially impacting social behavior, communication, and cognitive functions in individuals with autism.Furthermore, evidence suggests that autism spectrum disorder (ASD) is not caused by a single gene but rather reflects a complex genetic architecture involving multiple genes and interconnected biological pathways. This review highlights the importance of modern genetic technologies in enhancing our understanding of the genetic basis of ASD and their potential contribution to early diagnosis and the development of targeted, precision medicine-based therapies .The study also underscores the need for further genetic research in Arab and Iraqi populations to better characterize the genetic diversity associated with ASD.

DOI: https://doi.org/10.54633/2333-025-059-006