RNU4-2 / ReNU Syndrome Scientific Publications

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2026

  • Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23–25, 2025, Long Island, New York

    American Journal of Medical Genetics Part A | 19 February 2026

    Crocker, K., J. O’Toole, L. Pearse, et al. 2026. “ Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23–25, 2025, Long Island, New York.” American Journal of Medical Genetics Part A 1–7. https://doi.org/10.1002/ajmg.a.70098.

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    RNU4-2 Global Map

  • De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

    Nature Genetics | 9 January 2026

    Quinodoz, M., Rodenburg, K., Cvackova, Z. et al. De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nat Genet 58, 169–179 (2026). https://doi.org/10.1038/s41588-025-02451-4

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    Diagram illustrating RNA gene transcription and processing, showing noncoding RNA gene, snRNA genes, and RNU6 paralogs, the formation of snRNPs, dual and tri-snRNP complexes, and their roles in retinitis pigmentosa and neurodevelopmental disorder.

2025

  • Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies

    America Journal of Medical Genetics | 25 December 2025

    Chen Y, Gao L, Han X, et al. Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies. Am J Med Genet C Semin Med Genet. 2025 Dec 25. doi: 10.1002/ajmgc.70002. Epub ahead of print. PMID: 41449851.

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    Diagram illustrating the genetic and developmental process related to a specific disease. The image shows molecular structures, a human brain, a fetus, a DNA double helix with a magnified section revealing genetic code, and a flowchart indicating diagnostic outcomes, including resolved and excluded cases.

  • ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria

    Kidney Medicine | 10 December 2025

    William Morello, Greta Armaroli, Donatella Milani, et al. ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria, Kidney Medicine, Volume 8, Issue 2, 2026, 101202, ISSN 2590-0595, https://doi.org/10.1016/j.xkme.2025.101202.

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    Diagram depicting a girl with a DNA strand labeled RNU4-2 and a kidney, illustrating minimal change disease and proteinuria, with a chart indicating stable kidney function over time.

  • Small nuclear RNA genes in Mendelian disorders

    Nature Genetics | 4 December 2025

    Antonarakis, S. E. Small nuclear RNA genes in Mendelian disorders. Nat Genet (2025). https://doi.org/10.1038/s41588-025-02440-7

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    Diagram illustrating how Pseudogenes are transcribed into pre-mRNA, modified into snRNA, combined with protein subunits to form snRNPs, which then assemble into spliceosomes. The spliceosomes impact neurodevelopmental delay, developmental abnormalities, and retinal pigmentosa.

  • Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes

    Neurology Genetics | 20 October 2025

    Di Letto, P., De Leonibus, C., Palmieri, et al. (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

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    Diagram showing a 5-year-old girl with recognizable facial features, microcephaly, and hypotonia, alongside genetic elements including a DNA sequence with a mutation in the RNU4-2 gene, which is linked to delayed development and brain activity issues. The image depicts genetic investigations and a cell with DNA strands.

  • 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 | 9 September 2025

    Haas, H. , Strom, S. , Kesari, A. , et al. (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

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    Diagram showing the RNU4-2 gene variant's link to osteosarcoma, with genetic sequences, a human silhouette, a bone, and a timeline indicating 21 and 5-year markers.

  • ReNU syndrome - a newly described prevalent neurodevelopmental disorder: first case in the Czech Republic

    Česko-Slovenská Pediatrie | 1 July 2025

    Slabá K, Pokorná P, Koželková K, et al.. ReNU syndrome - a newly described prevalent neurodevelopmental disorder: first case in the Czech Republic. Ces-slov Pediat. 2025;80(4):177-181. doi: 10.55095/CSPediatrie2025/029.goes here

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    Infographic showing genetic sequencing process for diagnosing rare neurodevelopmental disorders. It features a child, genetic data, and mentions the RNU4-2 gene mutation linked to ReNU syndrome, with data on prevalence and sequencing methods

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

    Nature Genetics | 16 May 2025

    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

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    Diagram illustrating genetic variations and their impact on methylation patterns and clinical severity, involving RNU4-2 gene, splice site mutations, epigenetic patterns, and variants in RNU5B-1 and RNU5A-1 genes.

  • Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

    medRxiv | 10 April 2025

    De Jonghe J, Kim HC, Adedeji A, et al. 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

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    Diagram showing the genetic mutation effects such as ReNU syndrome, ReNU syndrome variants, and NDD, with a graph comparing

  • Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants

    European Journal of Human Genetics | 26 February 2025

    Bruselles A, Mancini C, Chiriatti L, et al. Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants. Eur J Hum Genet. 2025 Apr;33(4):432-440. doi: 10.1038/s41431-025-01820-1. Epub 2025 Feb 26. PMID: 40011755; PMCID: PMC11986017.

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2024

  • Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome

    Genetics in Medicine | 10 October 2024

    Valenzuela, Irene et al. Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome, Genetics in Medicine, Volume 26, Issue 12, 101288.

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    ReNU recognizable facial gestalt with dysmorphic craniofacial features: deep-set eyes with epicanthus; wide nasal bridge, upturned nose; large or cupped ears; full lips downturned corners; high-arched palate; drool, dental anomalies

  • ReNU syndrome – a newly discovered prevalent neurodevelopmental disorder

    Trends in Genetics | 1 October 2024

    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

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    Genetic testing process for boy with craniofacial dysmorphism. It shows the use of whole genome sequencing and targeted panels to identify pathogenic RNU4-2 gene variants linked to ReNU syndrome, highlighting need for WGS or targeted panels

  • De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

    Nature | 11 July 2024

    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.

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    Diagram illustrating the process of U4/U6 snRNA in splicing, including zones showing genetic encoding, duplex formation, spliceosome assembly, disruption and NDD consequences, with related molecular structures and processes.

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

    Clinical Genetics | 11 June 2024

    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.

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    Diagram of a five-year-old girl with recognizable facial features showing hypotonia and microcephaly, with a close-up of a DNA sequence highlighting a T nucleotide, and a representation of the RNU4-2 gene with associated genetic information, indicating delayed development, brain activity issues, and extensive previous failed genetic investigations.

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

    Pediatric Neurology | 2 June 2024

    Barbour K, Bainbridge MN, Wigby K, et al. 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

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

    Nature Medicine | 31 May 2024

    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

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