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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rube… See abstract for full author list ➔ Chen Y, et al. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical compon …
Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding …
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
Greene D, Thys C, Berry IR, Jarvis J, Ortibus E, Mumford AD, Freson K, Turro E. Greene D, et al. Nat Med. 2024 Aug;30(8):2165-2169. doi: 10.1038/s41591-024-03085-5. Epub 2024 May 31. Nat Med. 2024. PMID: 38821540 Free PMC article.
We implicated de novo variants among 47 cases in two regions of RNU4-2 in the etiology of a syndrome characterized by ID, microcephaly, short stature, hypotonia, seizures and motor delay. ...Analysis of national genomic diagnostic data showed RNU4-2 to …
We implicated de novo variants among 47 cases in two regions of RNU4-2 in the etiology of a syndrome characterized by ID, micr …
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
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. De Jonghe J, et al. medRxiv [Preprint]. 2025 Apr 10:2025.04.08.25325442. doi: 10.1101/2025.04.08.25325442. medRxiv. 2025. Update in: Nature. 2026 Apr 8. doi: 10.1038/s41586-026-10334-9. PMID: 40297424 Free PMC article. Updated. Preprint.
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 (NDD) that is predicted to affect tens of thousands of individuals worldwide(1,2). RNU4-2 is …
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic n …
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants.
Kuroda Y, Nagai K, Kawai Y, Naruto T, Saijou H, Morikawa S, Goto T, Sato M, Kurosawa K. Kuroda Y, et al. J Med Genet. 2025 Jul 21;62(8):531-535. doi: 10.1136/jmg-2024-110604. J Med Genet. 2025. PMID: 40413032
RNU4-2 encodes U4 small nuclear RNA (snRNA), a non-coding RNA forming the spliceosome complex via the U4/U6 snRNA duplex. ...We identified four Japanese patients (4.3%) with novel and recurrent RNU4-2 variants from 93 individuals of developmental delay …
RNU4-2 encodes U4 small nuclear RNA (snRNA), a non-coding RNA forming the spliceosome complex via the U4/U6 snRNA duplex. ...W …
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity.
Bertoli-Avella AM, Ganoza CA, Ferreira M, Najafi M, Polla DL, Kandaswamy K, Tripolszki K, Bauer P, Pinto Basto J. Bertoli-Avella AM, et al. J Med Genet. 2025 Jul 21;62(8):536-539. doi: 10.1136/jmg-2024-110556. J Med Genet. 2025. PMID: 40413033 Free PMC article.
We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellectual disability (ID) in a large cohort of individuals enriched for parental consanguinity.Genome sequencing (GS) data from 22 928 individual …
We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellec …
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.
Hayashi Y, Kajiwara K, Mizuno S, Okamoto N, Chan MY, Goto T, Hayakawa S, Kato M, Kim CA, Lev D, Moey LH, Taylor J, Gregersen N, Nezer-Kaner I, Keng WT, Okada S, Osaka H, Sagie T, Sakai Y, Tashiro K, Yap P, Fu L, Iwama K, Liang Q, Nishimura N, Saito S, Sakamoto M, Utsuno Y, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Miyatake S, Mizuguchi T, Fujita A, Matsumoto N. Hayashi Y, et al. J Hum Genet. 2025 Dec 17. doi: 10.1038/s10038-025-01442-x. Online ahead of print. J Hum Genet. 2025. PMID: 41408479
De novo variants in the highly constrained critical region including the T-loop region of RNU4-2 have been linked to ReNU syndrome, a neurodevelopmental disorder, but the broader mutational spectrum remains uncharacterized. Here, we show that, in a cohort of unresol …
De novo variants in the highly constrained critical region including the T-loop region of RNU4-2 have been linked to ReNU synd …
RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.
Rosenblum J, Beysen D, Jansen AC, De Rademaeker M, Reyniers E, Janssens K, Meuwissen M. Rosenblum J, et al. Clin Genet. 2025 Jan;107(1):104-112. doi: 10.1111/cge.14628. Epub 2024 Oct 21. Clin Genet. 2025. PMID: 39434505
De novo heterozygous variants in RNU4-2, a component of the major spliceosome, were recently found to cause a novel neurodevelopmental disorder. ...
De novo heterozygous variants in RNU4-2, a component of the major spliceosome, were recently found to cause a novel neurodevel …
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder.
Barbour K, Bainbridge MN, Wigby K, Besterman AD, Chuang NA, Tobin LE, Del Campo M, Lenberg J, Bird LM, Friedman J. Barbour K, et al. Pediatr Neurol. 2024 Dec;161:188-193. doi: 10.1016/j.pediatrneurol.2024.09.015. Epub 2024 Sep 21. Pediatr Neurol. 2024. PMID: 39423747 Free article.
BACKGROUND: RNU4-2 is a newly identified, noncoding gene responsible for a significant proportion of individuals with neurodevelopmental disorders (NDDs). ...CONCLUSIONS: Enhanced recognition of the RNU4-2 (n.64_65insT-common variant) phenotype, partic …
BACKGROUND: RNU4-2 is a newly identified, noncoding gene responsible for a significant proportion of individuals with neurodev …
47 results