New Gene on X Chromosome Linked to Autism Spectrum Disorder

Researchers identify DDX53 variants as contributors to autism, offering insights into its male predominance and genetic complexity.

A study has identified variants in the DDX53 gene, located on the X chromosome, as a significant genetic link to autism spectrum disorder (ASD).
The DDX53 gene variants were predominantly found in males, potentially explaining the higher prevalence of autism in males compared to females.
Researchers also highlighted PTCHD1-AS, another gene near DDX53, as a possible contributor to autism’s genetic basis.
The findings suggest that sex chromosomes play a critical role in autism and could lead to more precise diagnostic tools and therapeutic approaches.
The absence of a DDX53 equivalent in commonly used mouse models challenges current research methods and calls for new approaches to studying autism.