Overview
- A Nature Genetics study led by RadboudUMC with University of Basel collaborators links dominant de novo and inherited variants in RNU4-2 and RNU6 paralogues to retinitis pigmentosa.
- Analysis of about 5,000 previously unsolved RP cases uncovered pathogenic snRNA variants that provide molecular diagnoses for 67 families.
- The newly identified variants explain roughly 1.4% of unresolved RP cases, reducing the share without a genetic answer.
- The work began with a U.S. family in which whole-genome sequencing revealed an RNU4-2 hinge-region change that disrupts splicing regulation relevant to the retina.
- Genetic confirmation gives affected families access to counseling and reproductive options such as preimplantation genetic testing.