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Nitsuh Dargie

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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

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By Rocio Rius, Alexander Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogné, Hyung Chul Kim, Javeria R. Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina A. Austin-Tse, Sarah I. Baer, Meena Balasubramanian, Elsa V. Balton, Giulia Barcia, Jonathan Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C. Bramswig, Frederik Braun, Daniel G. Calame, Jamie Campbell, Charles Coutton, Chloe Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M. Dipple, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Lisa J. Ewans, Vanessa Geiger, Richard Gibbs, Ian Glass, Olivier GRUNEWALD, Paul Gueguen, Tobias B. Haack, Radu Harbuz, Ingo Helbig, Judit M. Horváth, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G. Christoph Korenke, Peter Krawitz, Steven S. Laurie, Richard J. Leventer, Rebecca J. Levy, James R. Lupski, Pierre Marijon, Kaitlin McGinnis, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Olfa Messaoud, Caroline Nava, Anne H. O’Donnell-Luria, Melanie O’Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Jennifer E. Posey, Chloe Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinet, Julien Thevenon, Eloise Uebergang, Catherine Vincent-Delorme, Evangeline Wassmer, Matthew Wheeler, Elif Güleç, Adeline Vanderver, Arastoo Vossough, Stephan Sanders, Siddharth Banka, Gregory M. Findlay, Daniel MacArthur, Cas Simons, Nicola Whiffin, Ana Beleza-Meireles, Daniel Buchzik, Anne Dieux, Fraser Jamie, Urania Kotzaeridou, Mevyn Nizard, Anna Jenne Prentice, Sandra Ueberberg
| Nature Verified
Correction to: Nature Genetics https://doi.org/10.1038/s41588-026-02554-6, published online 8 April 2026. In the version of this article initially published, the last name of Christel Thauvin-Robinet was misspelled (Thauvin-Robinetvin) and is now amended in the HTML and PDF versions of the article.
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Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders

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By Joachim De Jonghe, Hyung Chul Kim, Elsa Leitão, Ruebena Dawes, Christina M. Kajba, Benjamin Cogné, Yuyang Chen, Alexander Blakes, Cas Simons, Rocio Rius, Javeria R. Alvi, Christina A. Austin-Tse, Sarah I. Baer, Pierre Blanc, Daniel G. Calame, Charles Coutton, Chloe Cunningham, Katrina M. Dipple, Haowei Du, Salima El Chehadeh, Ian Glass, Joseph G. Gleeson, Olivier GRUNEWALD, Paul Gueguen, Marie-Line Jacquemont, Richard J. Leventer, Pierre Marijon, Olfa Messaoud, Tipu Sultan, Catherine Vincent-Delorme, Elif Güleç, Julien Thevenon, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Daniel MacArthur, Christel Depienne, Caroline Nava, Nicola Whiffin, Gregory M. Findlay, Ayanfeoluwa Adedeji, Florence Amblard, Elsa V. Balton, Nitsuh Dargie, Radu Harbuz, Christel Thauvin
| Nature Verified
Abstract 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′ splice site selection1,4.
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