{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T21:54:59Z","timestamp":1794434099853,"version":"4.9.1"},"reference-count":68,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Small nuclear RNAs (snRNAs) are essential components of the spliceosome. De novo variants in snRNA genes\n                    <jats:italic>RNU4-2<\/jats:italic>\n                    (ReNU syndrome),\n                    <jats:italic>RNU5B-1<\/jats:italic>\n                    and\n                    <jats:italic>RNU2-2<\/jats:italic>\n                    have been linked to dominant neurodevelopmental disorders (NDDs), revealing a large unexpected contribution of noncoding RNA genes to genetic diseases. Here, through international collaborations, we analyze systematically 200 potentially functional snRNA genes in a French cohort of 34,329 people with rare disorders. We report\n                    <jats:italic>RNU2-2<\/jats:italic>\n                    variants in 141 individuals, including 35 with recurrent dominant pathogenic variants and 91 affected members from 73 families with biallelic variants. Recessive\n                    <jats:italic>RNU2-2<\/jats:italic>\n                    NDD is at least twice as frequent as the dominant form and often involves a de novo variant in trans with an inherited allele, consistent with the high mutability of snRNA genes. Dominant and recessive\n                    <jats:italic>RNU2-2<\/jats:italic>\n                    NDDs share overlapping clinical features, with frequent epilepsy. Blood transcriptomics and DNA methylation analyses revealed subtle, variant-specific effects on splicing and episignatures. Our results support a gradient-of-impact model bridging dominant and recessive inheritance, and establish\n                    <jats:italic>RNU2-2<\/jats:italic>\n                    variants as a principal contributor to NDDs, nearly as prevalent as ReNU syndrome.\n                  <\/jats:p>","DOI":"10.1038\/s41588-026-02547-5","type":"journal-article","created":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T09:03:57Z","timestamp":1774861437000},"page":"782-797","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic 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Charbonnier is supported by the 2022 MESSIDORE program (project Inserm-MESSIDORE 19)\u201d was missing from the Acknowledgements and has now been added to the HTML and PDF versions of the article.","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"N.W. receives research funding from Novo Nordisk and Biomarin Pharmaceutical. L.T.D. receives research funding from Stoke Therapeutics. L.G.S. receives funding from the Health Research Council of New Zealand and Cure Kids New Zealand. She has served as a paid consultant of the Epilepsy Study Consortium for consulting work for Epygenix Therapeutics, Ovid Therapeutics, Stoke Therapeutics, Takeda Pharmaceuticals, UCB and Zogenix. L.G.S. has received research grants and consultancy fees from Zynerba Pharmaceuticals and has served on Takeda and Eisai Pharmaceuticals scientific advisory panels. I.E.S. has served on scientific advisory boards for CAMP4 Therapeutics, Longboard Pharmaceuticals, Mosaica Therapeutics, Takeda Pharmaceuticals and UCB; has received speaker honoraria from Akumentis, Biocodex, Chiesi, Stoke Therapeutics, UCB and Zuellig Pharma; has received funding for travel from Stoke Therapeutics and UCB; has served as an investigator for Anavex Life Sciences, Biohaven Ltd., Bright Minds Biosciences, Cerebral Therapeutics, Cerecin Inc., Cereval Therapeutics, Encoded Therapeutics, EpiMinder Inc., ES-Therapeutics, Longboard Pharmaceuticals, Marinus, Neuren Pharmaceuticals, Neurocrine BioSciences, Praxis Precision Medicines, Shanghai Zhimeng Biopharma, SK Life Science, Supernus Pharmaceuticals, Takeda Pharmaceuticals, UCB, Ultragenyx, Xenon Pharmaceuticals and Zogenix; has consulted for Biohaven Pharmaceuticals, Eisai, Epilepsy Consortium, Longboard Pharmaceuticals, Praxis, Stoke Therapeutics and UCB and is a executive Director of Bellberry Ltd. and a Director of the Australian Academy of Health and Medical Sciences. She may accrue future revenue on pending patent WO61\/010176 (filed: 2008): Therapeutic Compound; has a patent for SCN1A testing held by Bionomics Inc and licensed to various diagnostic companies; has a patent molecular diagnostic\/theranostic target for benign familial infantile epilepsy (BFIE) [PRRT2] 2011904493 and 2012900190 and PCT\/AU2012\/001321 (TECH ID:2012-009). The other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}