RNU4-2 / ReNU Syndrome
News & Scientific Articles
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New discovery renews hope for thousands with neurodevelopment disorders | paediatrics.ox.ac.uk
Hundreds of thousands could be affected by newly discovered genetic disorder | Gloucestershire Live
Recently discovered ReNU Syndrome diagnosis provides ‘renewed’ purpose and hope | Unique Magazine
ReNU Syndrome - A newly discovered prevalent neurodevelopmental disorder | Trends in Genetics
Girl, 9, has rare condition diagnosed thanks to chance discovery by biologists | itv NEWS
My son Charlie — and the breakthrough that changed our lives |THE TIMES
The story of 5-year-old Teodorek - ReNU syndrome | Fakultní nemocnice Brno
Their children hav a rare condition. They didn’t know it's name — until now | The Washington Post (paywalled)
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Greene, Daniel & Thys, Chantal & Berry, Ian & Jarvis, Joanna & Ortibus, Els & Mumford, Andrew & Freson, Kathleen & Turro, Ernest. (2024). Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature Medicine. 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
medRxiv 2024.10.07.24314689; doi: https://doi.org/10.1101/2024.10.07.24314689
Greene D, Thys C, Berry IR, Jarvis J, Ortibus E, Mumford AD, Freson K, Turro E. Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nat Med. 2024 Aug;30(8):2165-2169. doi: 10.1038/s41591-024-03085-5. Epub 2024 May 31. PMID: 38821540; PMCID: PMC11333284.
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. Clinical Genetics. 2024; 106(4): 512-517. doi:10.1111/cge.14574
Vanessa F. Burns, Elizabeth J. Radford, ReNU syndrome – a newly discovered prevalent neurodevelopmental disorder, Trends in Genetics, 2024, ISSN 0168-9525
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder. Barbour, Kristen et al. Pediatric Neurology, Volume 0, Issue 0
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
medRxiv 2025.04.08.25325442; doi: https://doi.org/10.1101/2025.04.08.25325442
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 (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. Clinical Genetics. 2024; 106(4): 512-517. doi:10.1111/cge.14574