Skip to main content
Have a personal or library account? Click to login
ReNU Syndrome and the RNU4-2 Mutation: A Missed Cause of Childhood Neurodevelopmental Delay Cover

ReNU Syndrome and the RNU4-2 Mutation: A Missed Cause of Childhood Neurodevelopmental Delay

Open Access
|May 2026

References

  1. Chen Y, Dawes R, Kim HC, et al. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024;632(8026):832–840. doi:10.1038/s41586-024-07773-7
  2. Greene D, Thys C, Berry IR, et al. Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature Medicine. 2024;30(8):2165–2169. doi:10.1038/s41591-024-03085-5
  3. Morgan BM, Rump P, Stirrups K, et al. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with epilepsy. Nat Genet. 2025. doi:10.1038/s41588-025-02159-5
  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
  5. Bruselles A, Mancini C, Chiriatti L, et al. Expanding the mutational spectrum of ReNU syndrome: insights into 5′ stem-loop variants. European Journal of Human Genetics. February 2025. doi:10.1038/s41431-025-01820-1
  6. Okamoto N, Nishi E, Hasegawa Y, et al. A Clinical Study of Nine Patients With ReNU Syndrome. Am J Med Genet A. 2025;197(11):e64151. doi:10.1002/ajmg.a.64151
  7. De Jonghe J, Kim HC, Adedeji A, et al. Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders. medRxiv. Published online April 11, 2025. doi:10.1101/2025.04.08.25325442
  8. Greene D, De Wispelaere K, Lees J, et al. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy. Nature Genetics. 2025;57(6):1367–1373. doi:10.1038/s41588-025-02159-5
  9. 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. Nature Genetics. May 2025. doi:10.1038/s41588-025-02184-4
  10. Bieth, E., Eddiry, S., Gaston, V. et al. Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome. Eur J Hum Genet 23, 252–255 (2015). doi:10.1038/ejhg.2014.103
  11. Ferreira IR, Costa RA, Gomes LHF, et al. A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes. Sci Rep. 2020;10(1):13026. Published 2020 Aug 3. doi:10.1038/s41598-020-69750-0
  12. Friedman JM, Cornel MC, Goldenberg AJ, et al. Genomic newborn screening: public health policy considerations and recommendations. BMC Med Genomics. 2017;10(1):9. Published 2017 Feb 21. doi:10.1186/s12920-017-0247-4
  13. Arora K, Suehnholz SP, Zhang H, et al. Genetic Ancestry-Based Differences in Biomarker-Based Eligibility for Precision Oncology Therapies. JAMA Oncol. 2025;11(3):310–316. doi:10.1001/jamaoncol.2024.5794
DOI: https://doi.org/10.34763/jmotherandchild.20263001.d-26-00014 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
Language: English
Page range: 102 - 105
Submitted on: Mar 27, 2026
Accepted on: Apr 23, 2026
Published on: May 31, 2026
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2026 Jawairya Muhammad Hussain, Laiba Ilyas, Areeba Amir, Muhammad Azlan, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.