GENES INVOLVED AND COMBINATION OF PHENOTYPICAL HETEROGENEITY IN PATIENTS DIAGNOSED WITH AUTISTIC SPECTRUM DISORDER (ASD): A LITERATURE REVIEW

Resumen

Autism Spectrum Disorder (ASD) is characterized by cognitive impairment and impairment in behavioral and social interaction. Of complex etiology, considering interactions between genetic and epigenetic factors.  Objective: The research proposes to investigate the genetic contribution underlying Autism Spectrum Disorder (ASD). Methods: A systematic literature review methodology is used in the PubMed, Scientific Electronic Library Online (Scielo) and VHL databases via DeCS/MeSH descriptors in any language. Results and discussions: The findings highlight the strong predominance of genetic influences in ASD, evidencing the alteration of more than 800 documented genes, whose heritability is greater than 80%. Covering a diverse plexus regarding its functionality with changes in chromatin remodeling, transcription factors/regulators, mRNA traffic regulators, protein modification, cell proliferation, and synaptic architecture. Genomic interactions that include deletion, translocation, polymorphism and specific mutations found in the genes: MTHFR, GABRB3, RELN, OXTR, RTTN, SOCS6, CBLN2, and the alteration of the chromosomal chromosomes in the numbers :1, 2, 3, 7, 16, 22, with a predominance of 17, were highlighted. Responsible for altering the formation of proteins and neurotransmitters indispensable for the development of physical, social and behavioral skills. In addition, association with RETT and X-fragile syndromes. Conclusion: Therefore, this research highlights the genetic complexity of ASD with a high degree of heritability, the insufficiency of genetic testing, reliable biological markers, and the pressing need for additional advances in diagnosis, clinical management, and early therapeutic approaches.