Scientific Articles

• Greene, D., Thys, C., Berry, I.R. et al. Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nat Med 30, 2165–2169 (2024). https://doi.org/10.1038/s41591-024-03085-5

• Chen, Y., Dawes, R., Kim, H.C. et al. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632, 832–840 (2024). https://doi.org/10.1038/s41586-024-07773-7

• Nava, C., Cogne, B., Santini, A. et al. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nat Genet 57, 1374–1388 (2025). https://doi.org/10.1038/s41588-025-02184-4

• Schot R, Ferraro F, Geeven G, Diderich KEM, Barakat TS. Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder. Clin Genet. 2024 Oct;106(4):512-517. doi: 10.1111/cge.14574. Epub 2024 Jun 11. PMID: 38859706

• Burns VF, Radford EJ. ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder. Trends Genet. 2024;40(11):914-916. 10.1016/j.tig.2024.09.005

• Barbour K, Bainbridge MN, Wigby K, Besterman AD, Chuang NA, Tobin LE, Del Campo M, Lenberg J, Bird LM, Friedman J. The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder. Pediatr Neurol. 2024 Dec;161:188-193. doi: 10.1016/j.pediatrneurol.2024.09.015

• De Jonghe J, Kim HC, Adedeji A, Leitão E, Dawes R, Chen Y, Blakes AJ, Simons C, Rius R, Alvi JR, Amblard F, Austin-Tse C, Baer S, Balton EV, Blanc P, Calame DG, Coutton C, Cunningham CA, Dargie N, Dipple KM, Du H, El Chehadeh S, Glass I, Gleeson JG, Grunewald O, Gueguen P, Harbuz R, Jacquemont ML, Leventer RJ, Marijon P, Messaoud O, Sultan T, Thauvin C, Vincent-Delorme C, Gulec EY, Thevenon J, Mendez R, MacArthur DG, Depienne C, Nava C, Whiffin N, Findlay GM. Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders. medRxiv. 2025 Apr 10:2025.04.08.25325442. doi: 10.1101/2025.04.08.25325442

• Haas, H. , Strom, S. , Kesari, A. , Lowry, J. , Belnap, N. , Naymik, M. , Bonfitto, A. , Crawford, A. , Hernandez, D. , Wang, R. , Pham, M. , Albay, J. , Huentelman, M. , Narayanan, V. , Rangasamy, S. and Ramsey, K. (2025) A Rare Case of Osteosarcoma in an Individual with the Recurrent n.64_65insT Variant in the RNU4-2 Gene. Case Reports in Clinical Medicine, 14, 504-508. doi: 10.4236/crcm.2025.149064

• Di Letto, P., De Leonibus, C., Palmieri, F. P., Zanobio, M., Scarpato, M., Cetrangolo, V., Rahman, S. I., Selicorni, A., Mariani, M., D’Arrigo, S., Ciaccio, C., Milani, D., Ajmone, P. F., Morleo, M., Spampanato, C., Piluso, G., Zollino, M., L’Erario, F. F., Greco, D., Capra, V., … Peron, A. (2025). Reanalysis of undiagnosed neurodevelopmental disorder cases: From RNU4-2 variants to clinical phenotypes. Neurology: Genetics, 11(6), e200312. https://doi.org/10.1212/NXG.0000000000200312