A new gene, DDX53, has been identified by Canadian researchers as a contributor to autism, which could pave the way for future genetic research.
The study, published in The American Journal of Human Genetics, examined the DDX53 gene, which is located on the X chromosome. The gene is known to play a role in brain development and function, but it was not previously definitively associated with autism.
Researchers from The Hospital for Sick Children (SickKids) in Canada and the Istituto Giannina Gaslini in Italy clinically tested 10 autistic individuals from eight different families and found that variants in the DDX53 gene were maternally inherited and present in these individuals.
Further analysis of large autism research databases, including Autism Speaks MSSNG and Simons Foundation Autism Research Initiative, identified 26 more individuals with autism who had similar rare DDX53 variants to the study participants.
Senior author Dr Stephen Scherer, Senior Scientist, Genetics & Genome Biology and Chief of Research at SickKids, and Director of the McLaughlin Centre at the University of Toronto, said: “By pinpointing DDX53 as a key player, particularly in males, we can better understand the biological mechanisms at play and improve diagnostic accuracy for individuals and their families.
“Identifying this new gene as a confirmed contributor to ASD underscores the complexity of autism and the need for comprehensive genetic analysis.”
Lead author Dr Marcello Scala, a researcher in Medical Genetics at the Istituto Giannina Gaslini, affiliated with the University of Genoa, added: “This gene has long eluded us, not previously linked to any neuropsychiatric condition. Our findings support a direct link between DDX53 and autism, which is not only crucial for future clinical genetic testing, but its discovery suggests that the pathway it affects is related to the behavioural traits of autism, opening a whole new area of exploration.”
