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

Nava, C., Cogne, B., Santini, A., Leitão, E., Lecoquierre, F., Chen, Y., Stenton, S. L., Besnard, T., Heide, S., Baer, S., Jakhar, A., Neuser, S., Keren, B., Faudet, A., Forlani, S., Faoucher, M., Uguen, K., Platzer, K., Afenjar, A., … Depienne, C. (2025). Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. Nature Genetics. https://doi.org/10.1038/s41588-025-02184-4
Authors:
Caroline Nava
Benjamin Cogne
Amandine Santini
Elsa Leitão
François Lecoquierre
Yuyang Chen
Sarah L Stenton
Thomas Besnard
Solveig Heide
Sarah Baer
Abhilasha Jakhar
Sonja Neuser
Boris Keren
Anne Faudet
Sylvie Forlani
Marie Faoucher
Kevin Uguen
Konrad Platzer
Alexandra Afenjar
Jean-Luc Alessandri
Stephanie Andres
Chloé Angelini
Bernard Aral
Benoit Arveiler
Tania Attie-Bitach
Marion Aubert Mucca
Guillaume Banneau
Tahsin Stefan Barakat
Giulia Barcia
Stéphanie Baulac
Claire Beneteau
Fouzia Benkerdou
Virginie Bernard
Stéphane Bézieau
Dominique Bonneau
Marie-Noelle Bonnet-Dupeyron
Simon Boussion
Odile Boute
Elise Brischoux-Boucher
Samantha J Bryen
Julien Buratti
Tiffany Busa
Almuth Caliebe
Yline Capri
Kévin Cassinari
Roseline Caumes
Camille Cenni
Pascal Chambon
Perrine Charles
John Christodoulou
Cindy Colson
Solène Conrad
Auriane Cospain
Juliette Coursimault
Thomas Courtin
Madeline Couse
Charles Coutton
Isabelle Creveaux
Alissa M D'Gama
Benjamin Dauriat
Jean-Madeleine de Sainte Agathe
Giulia Del Gobbo
Andrée Delahaye-Duriez
Julian Delanne
Anne-Sophie Denommé-Pichon
Anne Dieux-Coeslier
Laura Do Souto Ferreira
Martine Doco-Fenzy
Stephan Drukewitz
Véronique Duboc
Christèle Dubourg
Yannis Duffourd
David Dyment
Salima El Chehadeh
Monique Elmaleh
Laurence Faivre
Samuel Fennelly
Hanna Fischer
Mélanie Fradin
Camille Galludec Vaillant
Benjamin Ganne
Jamal Ghoumid
Himanshu Goel
Zeynep Gokce-Samar
Alice Goldenberg
Romain Gonfreville Robert
Svetlana Gorokhova
Louise Goujon
Victoria Granier
Mathilde Gras
John M Greally
Bianca Greiten
Paul Gueguen
Anne-Marie Guerrot
Saurav Guha
Anne Guimier
Tobias B Haack
Hamza Hadj Abdallah
Yosra Halleb
Radu Harbuz
Madeleine Harris
Julia Hentschel
Bénédicte Héron
Marc-Phillip Hitz
A Micheil Innes
Vincent Jadas
Louis Januel
Nolwenn Jean-Marçais
Vaidehi Jobanputra
Florence Jobic
Ludmila Jornea
Céline Jost
Sophie Julia
Frank J Kaiser
Daniel Kaschta
Sabine Kaya
Petra Ketteler
Bochra Khadija
Fabian Kilpert
Cordula Knopp
Florian Kraft
Ilona Krey
Marilyn Lackmy
Fanny Laffargue
Laetitia Lambert
Ryan Lamont
Vincent Laugel
Steven Laurie
Julie L Lauzon
Louis Lebreton
Marine Lebrun
Marine Legendre
Eric Leguern
Daphné Lehalle
Elodie Lejeune
Gaetan Lesca
Marion Lesieur-Sebellin
Jonathan Levy
Agnès Linglart
Stanislas Lyonnet
Kevin Lüthy
Alan S Ma
Corinne Mach
Jean-Louis Mandel
Lamisse Mansour-Hendili
Julien Marcadier
Victor Marin
Henri Margot
Valentine Marquet
Angèle May
Johannes A Mayr
Catherine Meridda
Vincent Michaud
Caroline Michot
Gwenael Nadeau
Sophie Naudion
Laetitia Nguyen
Mathilde Nizon
Frédérique Nowak
Sylvie Odent
Valerie Olin
Ikeoluwa A Osei-Owusu
Matthew Osmond
Katrin Õunap
Laurent Pasquier
Sandrine Passemard
Melissa Pauly
Olivier Patat
Marine Pensec
Laurence Perrin-Sabourin
Florence Petit
Christophe Philippe
Marc Planes
Annapurna Poduri
Céline Poirsier
Antoine Pouzet
Bradley Prince
Clément Prouteau
Aurora Pujol
Caroline Racine
Mélanie Rama
Francis Ramond
Kara Ranguin
Margaux Raway
André Reis
Mathilde Renaud
Nicole Revencu
Anne-Claire Richard
Lucile Riera-Navarro
Rocio Rius
Diana Rodriguez
Agustí Rodriguez-Palmero
Sophie Rondeau
Annika Roser-Unruh
Christelle Rougeot Jung
Hana Safraou
Véronique Satre
Pascale Saugier-Veber
Clément Sauvestre
Elise Schaefer
Wanqing Shao
Ina Schanze
Jan-Ulrich Schlump
Agatha Schlüter Martin
Caroline Schluth-Bolard
Sarah Schuhmann
Christopher Schröder
Monisha Sebastin
Sabine Sigaudy
Malte Spielmann
Marta Spodenkiewicz
Laura St Clair
Julie Steffann
Radka Stoeva
Harald Surowy
Mark A Tarnopolsky
Calina Todosi
Annick Toutain
Frédéric Tran Mau-Them
Astrid Unterlauft
Julien Van-Gils
Clémence Vanlerberghe
Georgia Vasileiou
Gabriella Vera
André Verdel
Alain Verloes
Yoann Vial
Cédric Vignal
Marie Vincent
Catherine Vincent-Delorme
Aline Vincent-Devulder
Antonio Vitobello
Sacha Weber
Marjolaine Willems
Khaoula Zaafrane-Khachnaoui
Pia Zacher
Lena Zeltner
Alban Ziegler
Wojciech P Galej
Hélène Dollfus
Christel Thauvin
Kym M Boycott
Pierre Marijon
Alban Lermine
Valérie Malan
Marlène Rio
Alma Kuechler
Bertrand Isidor
Séverine Drunat
Thomas Smol
Nicolas Chatron
Amélie Piton
Gael Nicolas
Matias Wagner
Rami Abou Jamra
Delphine Héron
Cyril Mignot
Pierre Blanc
Anne O'Donnell-Luria
Nicola Whiffin
Camille Charbonnier
Clément Charenton
Julien Thevenon
Christel Depienne
Affiliated Authors:
Vaidehi Jobanputra
Columbia Affiliation:
elink
Publication Type:
Article
Unique ID:
10.1038/s41588-025-02184-4
PMID:
40379786
DOI:
10.1038/s41588-025-02184-4
Journal:
Nature Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Web of Science Record

Record Created: