MoGen Researchers Uncover Gene Behind Boys’ Higher Risk for Autism
New Autism-Linked Gene Sheds Light on Sex Differences in the Disorder
Scientists have identified a gene, DDX53, that is strongly associated with autism spectrum disorder (ASD), offering new insights into its genetic basis. The discovery, published in the American Journal of Human Genetics, highlights why autism is about four times more common in boys than in girls—DDX53 is located on the X-chromosome, meaning males, who have only one X, are more vulnerable to its absence or alteration.
Dr. Stephen Scherer, a professor in the Department of Molecular Genetics at the University of Toronto and chief of research at SickKids, played a key role in the study. His team identified 10 individuals with ASD who had mutations in DDX53, with all affected males showing classic autism traits. A larger database revealed 26 additional cases with rare DDX53 variants, reinforcing its role in neurodevelopment.
DDX53 encodes an RNA helicase, a protein involved in regulating gene activity during brain development. Because it plays an upstream role in gene expression, its disruption may have a cascading effect on autism risk. The study also examined other genes on the X-chromosome and identified 17 candidates, including PTCHD1-AS, previously linked to cognitive disabilities.
This research offers hope for more precise autism diagnoses, helping families better understand their child’s condition and potential interventions. Dr. Myriam Srour, a pediatric neurologist, emphasized that genetic insights empower families by connecting them with support communities and guiding treatment options.
The findings come amid increased public discussion about autism, particularly as U.S. President-elect Donald Trump’s health secretary nominee, Robert F. Kennedy Jr., has promoted debunked vaccine-autism claims. The study underscores that autism has a strong genetic basis, countering misinformation about its origins.
