Article
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
Nature genetics - 1 Apr 2026
Jackson Adam, Blakes Alexander J M, Alhaddad Bader, Henry Olivia J, Delgado-Vega Angelica M, Wall Elizabeth, Abdelhadi Ola, Agrawal Shakti, Bakur Khadijah, Blair Edward, Brady Angela F, Brittain Helen, Chandler Kate E, Clarke Natasha, Danelli Miriana, Drinkall Nicholas, Duba Irene, Elmslie Frances, Ellingford Jamie, Ewans Lisa J, Fennell Andrew P, Gazdagh Gabriella, Heller Simon P, Hammarsjö Anna, Karrman Kristina, Kini Usha, Lesko Nicole, Lindstrand Anna, Macintosh Rebecca, Mansour Sahar, Menzies Lara, Metcalfe Kay, Milhench Alison, Nashef Lina, O'Keefe Raymond T, Pacheco Nadja Pekkola, Palmer Elizabeth E, Parida Amitav, Prescott Katrina, Redman Melody, Renieri Alessandra, Fallerini Chiara, Rizzo Caterina Lo, Sachdev Rani, Simons Cas, Sisodiya Sanjay M, Stewart Helen, Stödberg Tommy, Banos-Pinero Benito, Taylan Fulya, Thomas Huw B, Tinella Flavia, Wiafe Samuel, Wedell Anna, Whiffin Nicola, Walker Susan, Rius Rocio, Chae Jong Hee, Nordgren Ann, Alkuraya Fowzan, Lord Jenny, Banka Siddharth
Abstract excerpt
Neurodevelopmental disorders (NDDs) affect 2-4% of the population, are predominantly genetic and remain unsolved in ~50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with unresolved NDDs. We define a recessive RNU2-2 syndrome, delineate its unique genetic architecture and show that it manifests clinically as a severe developmental and epileptic...
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