Progress in The Molecular Genetic Research in Autism Spectrum Disorders

Author(s): Xiao Han, Rui Peng, Linna Zhang and Zhiwen Shi

Autism spectrum disorders (ASDs) bring heavy economic and spiritual burden to families and society. Early diagnosis and intervention are helpful to improve the behavioral abnormalities of ASDs patients and their ability of self-care and social interaction. Prenatal diagnosis and genetic testing provide conditions for early screening, but a clear understanding of the genetic causes of ASDs is still needed. The AutDB database integrates the pathogenic mutations published in recent years. But unfortunately, among hundreds of ASDs susceptibility genes, most of the evidence is weak, and only a small part of the pathogenicity is clear. Significant progress has been made in the use of different animal models to verify the causal relationship of ASDs and to study the pathogenesis of ASDs at the molecular and cellular level. Functional clustering analysis reveals that highly heterogeneous genetic factors ultimately lead to clinical phenotypes through common pathways, suggesting that therapeutic approaches should be tailored to these pathways. Establishing rapid genetic screening methods and developing targeted therapeutic drugs will bring good news to ASDs patients and families.

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