Article
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
Nature - 1 Jun 2026
De Jonghe Joachim, Kim Hyung Chul, Adedeji Ayanfeoluwa, Leitão Elsa, Dawes Ruebena, Kajba Christina M, Cogné Benjamin, Chen Yuyang, Blakes Alexander J M, Simons Cas, Rius Rocio, Alvi Javeria R, Amblard Florence, Austin-Tse Christina, Baer Sarah, Balton Elsa V, Blanc Pierre, Calame Daniel G, Coutton Charles, Cunningham Chloe A, Dargie Nitsuh, Dipple Katrina M, Du Haowei, El Chehadeh Salima, Glass Ian, Gleeson Joseph G, Grunewald Olivier, Gueguen Paul, Harbuz Radu, Jacquemont Marie-Line, Leventer Richard J, Marijon Pierre, Messaoud Olfa, Sultan Tipu, Thauvin Christel, Vincent-Delorme Catherine, Yilmaz Gulec Elif, Thevenon Julien, Mendez Rodrigo, MacArthur Daniel G, Depienne Christel, Nava Caroline, Whiffin Nicola, Findlay Gregory M
Abstract excerpt
Recently, de novo variants in an 18-nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder that is predicted to affect tens of thousands of individuals worldwide1,2. RNU4-2 is a non-protein-coding gene that is transcribed into the U4 small nuclear RNA component of the major spliceosome3. ReNU syndrome variants disrupt spliceosome function and alter 5'...
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