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

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitao, Elsa; Lecoquierre, Francois; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloe; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stephanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bezieau, Stephane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kevin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solene; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andree; Delanne, Julian; Denomme-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Veronique; Dubourg, Christele; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Melanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine

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

Author:

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitao, Elsa; Lecoquierre, Francois; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloe; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stephanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bezieau, Stephane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kevin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solene; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andree; Delanne, Julian; Denomme-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Veronique; Dubourg, Christele; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Melanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine

Tübinger Autor(en):

Zeltner, Lena
Haack, Tobias

Published in:

Nature Genetics (2025), Bd. 57, H. 6, S. 1374–1388

Verlagsangabe:

Berlin : Nature Portfolio

Language:

English

Full text:

http://dx.doi.org/10.1038/s41588-025-02184-4

ISSN:

1061-4036