Article
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Nature communications - 23 Jan 2026
Uguen Kevin, Bergot Tiffany, Scott-Boyer Marie-Pier, Chapalain Solène, Desdouets Camille, Commet Séverine, Zhu Changlian, Xu Yiran, Wang Yangong, Roscioli Tony, Tran-Mau-Them Frederic, Faivre Laurence, Maraval Julien, Delanne Julian, Denommé-Pichon Anne-Sophie, Vitobello Antonio, Jost Céline, Planes Marc, Hiatt Susan, Wheeler Patricia, Gonzaga-Jauregui Claudia, Wang Heng, Xin Baozhong, Sency Valerie, Kruer Michael C, Bakhtiari Somayeh, Sulem Patrick, Curry Cynthia, Prescott Trine, Strobl-Wildemann Gertrud, Brunet Theresa, Doco Fenzy Martine, Courtin Thomas, Poirsier Céline, Bjørg Hammer Trine, Fenger Christina D, MacPherson Melissa, Izumi Kosuke, Leonard Jacqueline, Li Dong, Zackai Elaine H, Glass Ian A, Ward Scott, Campeau Philippe M, Borroto Maria Carla Hermida, Le Moigno Laurence, Van Esch Hilde, De Waele Liesbeth, Calame Daniel G, Lupski James R, Barcia Giulia, Peduto Cristina, Planté-Bordeneuve Pauline, Dupuis Lucie, Mendoza-Londono Roberto, Stavropoulos Dimitri J, Gillibert-Duplantier Jennifer, Besnard Thomas, Do Souto Ferreira Laura, Cogné Benjamin, Bézieau Stéphane, Droit Arnaud, Corcos Laurent, Lippert Eric, Férec Claude, Küry Sebastien, Bernard Delphine G
Abstract excerpt
SF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far. We describe here a cohort of 26 individuals with neurodevelopmental disorders, harbouring SF3B1 constitutional heterozygous variants that appeared mostly de novo....
Topics
- Humans
- RNA Splicing Factors