Mutations (blue) in U2 snRNA cause a neurodevelopmental disorder about one-fifth as common as the RNU4-2/ReNU disorder, which is linked to mutations (orange) in U4 snRNA. snRNAs are shown in black, pre-mRNA in green, and gray lines show how different snRNAs interact with pre-mRNA during gene splicing. Credit: Greene et al, Nature Genetics 2025.
A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).
The study, published in the April 10 online issue of Nature Genetics, reveals that mutations in a small, previously overlooked non-coding gene called RNU2-2 are responsible for relatively common NDD. Non-coding genes are genes that don’t produce proteins but may still play critical roles in regulating cell functions.