RNU4-2 / ReNU Syndrome in the Media

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders | Nature Medicine

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders | Nature

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption | medRxiv

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders | NIH

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder | WILEY Online Library

ReNU syndrome – a newly discovered prevalent neurodevelopmental disorder | ScienceDirect

The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder | Pediatric Neurology

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