A recent study published in The American Journal of Human Genetics has discovered a genetic link between the DDX53 gene, located on the X chromosome, and autism spectrum disorder (ASD), which is more prevalent in males. Researchers from The Hospital for Sick Children in Canada and the Istituto Giannina Gaslini in Italy examined ten individuals with ASD and found that variants in DDX53 were mostly inherited from mothers and predominantly present in males. This finding sheds light on the genetic basis of ASD and its male bias. The research could improve diagnostic accuracy and deepen understanding of biological mechanisms related to autism.
Moreover, the team discovered potential involvement of another gene, PTCHD1-AS, in autism. Their analysis identified 26 additional individuals with ASD sharing similar DDX53 variants. The absence of DDX53 homologues in common mouse models suggests researchers may need to alter study approaches for ASD. These findings underscore the complexity of autism’s genetic underpinnings and highlight the necessity for in-depth genetic analysis to refine diagnostics and therapeutic strategies for affected families. Overall, this study represents a significant advancement in unraveling the genetic factors influencing autism.
