Gene mutation underlies neurodevelopmental disorders (Aug 4, 2023)


A group of 20 patients with undiagnosed neurodevelopmental disorders, ranging from mild to severe, now have a genetic diagnosis thanks to an international team of researchers, including investigators from Baylor College of Medicine's GREGoR Research Center. The team analyzed the patients' genes and conducted family studies, finding they all had mutations of the gene DHX9. While mutations of this gene had been associated with neurodevelopmental problems in prior studies using animal models, this is the first time it has been associated with human disease. The team's findings appear in the American Journal of Human Genetics.