Publication in a peer-reviewed journal

Nature Study Links RNU4-2 Variants to 0.4% of Neurodevelopmental Disorders

Jul 12, 2024, 01:08 AM

A groundbreaking study published in Nature has identified de novo variants in the RNU4-2 snRNA as a frequent cause of neurodevelopmental disorders (NDD). The research highlights that mutations in the RNU4-2 gene, a non-coding gene encoding a small nuclear RNA (snRNA), are linked to a significant number of NDD cases, explaining up to 0.4% of these disorders. Notably, the de novo variants, which involve a stretch of 18 bp, were all found on the maternal allele. This discovery marks a landmark moment in the history of NDD genetics, with hundreds of individuals already diagnosed with severe developmental delays due to these mutations.