Researchers Identify Noncoding Gene RNU4-2 Mutation Linked to Neurodevelopmental Disorders at ESHG 2024

Jun 3, 2024, 08:35 AM

Recent research has identified mutations in the noncoding gene RNU4-2 as a significant cause of neurodevelopmental disorders, including intellectual disabilities. The discovery was presented at the European Society of Human Genetics 2024 conference by researchers from Genomics England and other institutions. Yuyang Chen from Nicky Whiffin's group highlighted that 60% of developmental disorder patients do not receive a diagnosis from an exome, emphasizing the importance of noncoding genes in genetic research. Daniel Greene also presented independent findings supporting RNU4-2's role in these disorders through case/control analysis. This breakthrough, reported by NatureMedicine and NBCNews, could potentially explain the genetic basis for tens of thousands of patients with rare neurodevelopmental diseases.