De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan M. Panneman, Rebekkah J. Hitti-Malin, Manir Ali, Ala’a AlTalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh D. N. Astuti, Carmen Ayuso, Radha Ayyagari, Sandro Banfi, Eyal Banin, Tahsin Stefan Barakat, Mirella T. S. Barboni, Miriam Bauwens, Tamar Ben-Yosef, Virginie Bernard, David G. Birch, Pooja Biswas, Fiona Blanco-Kelly, Beatrice Bocquet, Camiel J. F. Boon, Kari Branham, Dominique Bremond-Gignac, Alexis Ceecee Britten-Jones, Kinga M. Bujakowska, Cyril Burin des Roziers, Elizabeth L. Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Naomi Chadderton, Peter Charbel Issa, Luísa Coutinho-Santos, Stephen P. Daiger, Elfride De Baere, Marieke De Bruyne, Berta de la Cerda, John N. De Roach, Julie De Zaeytijd, Ronny Derks, Claire-Marie Dhaenens, Lubica Dudakova, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Beau J. Fenner, Lidia Fernández-Caballero, Juliana M. Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C. Gardner, Christian Gilissen, Roser Gonzàlez-Duarte, Kensuke Goto, Sam Griffiths-Jones, Tobias B. Haack, Lonneke Haer-Wigman, Alison J. Hardcastle, Takaaki Hayashi, Elise Héon, Lies H. Hoefsloot, Alexander Hoischen, Josephine P. Holtan, Carel B. Hoyng, Manuel Benjamin B. Ibanez, Chris F. Inglehearn, Takeshi Iwata, Brynjar O. Jensson, Kaylie Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Krisztina Knézy, Robert K. Koenekoop, Susanne Kohl, Taro Kominami, Laura Kühlewein, Tina M. Lamey, Rina Leibu, Bart P. Leroy, Petra Liskova, Irma Lopez, Victor R. de J. López-Rodríguez, Quinten Mahieu, Omar A. Mahroo, Gaël Manes, Luke Mansard, M. Pilar Martín-Gutiérrez, Nelson Martins, Laura Mauring, Martin McKibbin, Terri L. McLaren, Isabelle Meunier, Michel Michaelides, José M. Millán, Kei Mizobuchi, Rajarshi Mukherjee, Zoltán Zsolt Nagy, Kornelia Neveling, Monika Ołdak, Michiel Oorsprong, Yang Pan, Anastasia Papachristou, Antonio Percesepe, Maximilian Pfau, Eric A. Pierce, Emily Place, Raj Ramesar, Francis Ramond, Florence Andrée Rasquin, Gillian I. Rice, Lisa Roberts, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Ataf H. Sabir, Ai Fujita Sajiki, Ana Isabel Sánchez-Barbero, Asodu Sandeep Sarma, Riccardo Sangermano, Cristina M. Santos, Margherita Scarpato, Hendrik P. N. Scholl, Dror Sharon, Sabrina G. Signorini, Francesca Simonelli, Ana Berta Sousa, Maria Stefaniotou, Kari Stefansson, Katarina Stingl, Akiko Suga, Patrick Sulem, Lori S. Sullivan, Viktória Szabó, Jacek P. Szaflik, Gita Taurina, Alberta A. H. J. Thiadens, Carmel Toomes, Viet H. Tran, Miltiadis K. Tsilimbaris, Pavlina Tsoka, Veronika Vaclavik, Marie Vajter, Sandra Valeina, Enza Maria Valente, Casey Valentine, Rebeca Valero, Sophie Valleix, Joseph van Aerschot, L. Ingeborgh van den Born, Mattias Van Heetvelde, Virginie J. M. Verhoeven, Andrea L. Vincent, Andrew R. Webster, Laura Whelan, Bernd Wissinger, Georgia G. Yioti, Kazutoshi Yoshitake, Juan C. Zenteno, Roberta Zeuli, Theresia Zuleger, Chaim Landau, Allan I. Jacob, Siying Lin, Frans P. M. Cremers, Winston Lee, Jamie M. Ellingford, David Stanek, Susanne Roosing, Carlo Rivolta

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DOI
10.1038/s41588-025-02451-4
Published
2026-01
Container
Nature Genetics
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1038/s41588-025-02451-4,
  title = {De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa},
  author = {Mathieu Quinodoz and Kim Rodenburg and Zuzana Cvackova and Karolina Kaminska and Suzanne E. de Bruijn and Ana Belén Iglesias-Romero and Erica G. M. Boonen and Mukhtar Ullah and Nick Zomer and Marc Folcher and Jacques Bijon and Lara K. Holtes and Stephen H. Tsang and Zelia Corradi and K. Bailey Freund and Stefanida Shliaga and Daan M. Panneman and Rebekkah J. Hitti-Malin and Manir Ali and Ala’a AlTalbishi and Sten Andréasson and Georg Ansari and Gavin Arno and Galuh D. N. Astuti and Carmen Ayuso and Radha Ayyagari and Sandro Banfi and Eyal Banin and Tahsin Stefan Barakat and Mirella T. S. Barboni and Miriam Bauwens and Tamar Ben-Yosef and Virginie Bernard and David G. Birch and Pooja Biswas and Fiona Blanco-Kelly and Beatrice Bocquet and Camiel J. F. Boon and Kari Branham and Dominique Bremond-Gignac and Alexis Ceecee Britten-Jones and Kinga M. Bujakowska and Cyril Burin des Roziers and Elizabeth L. Cadena and Giacomo Calzetti and Francesca Cancellieri and Luca Cattaneo and Naomi Chadderton and Peter Charbel Issa and Luísa Coutinho-Santos and Stephen P. Daiger and Elfride De Baere and Marieke De Bruyne and Berta de la Cerda and John N. De Roach and Julie De Zaeytijd and Ronny Derks and Claire-Marie Dhaenens and Lubica Dudakova and Jacque L. Duncan and G. Jane Farrar and Nicolas Feltgen and Beau J. Fenner and Lidia Fernández-Caballero and Juliana M. Ferraz Sallum and Simone Gana and Alejandro Garanto and Jessica C. Gardner and Christian Gilissen and Roser Gonzàlez-Duarte and Kensuke Goto and Sam Griffiths-Jones and Tobias B. Haack and Lonneke Haer-Wigman and Alison J. Hardcastle and Takaaki Hayashi and Elise Héon and Lies H. Hoefsloot and Alexander Hoischen and Josephine P. Holtan and Carel B. Hoyng and Manuel Benjamin B. Ibanez and Chris F. Inglehearn and Takeshi Iwata and Brynjar O. Jensson and Kaylie Jones and Vasiliki Kalatzis and Smaragda Kamakari and Marianthi Karali and Ulrich Kellner and Caroline C. W. Klaver and Krisztina Knézy and Robert K. Koenekoop and Susanne Kohl and Taro Kominami and Laura Kühlewein and Tina M. Lamey and Rina Leibu and Bart P. Leroy and Petra Liskova and Irma Lopez and Victor R. de J. López-Rodríguez and Quinten Mahieu and Omar A. Mahroo and Gaël Manes and Luke Mansard and M. Pilar Martín-Gutiérrez and Nelson Martins and Laura Mauring and Martin McKibbin and Terri L. McLaren and Isabelle Meunier and Michel Michaelides and José M. Millán and Kei Mizobuchi and Rajarshi Mukherjee and Zoltán Zsolt Nagy and Kornelia Neveling and Monika Ołdak and Michiel Oorsprong and Yang Pan and Anastasia Papachristou and Antonio Percesepe and Maximilian Pfau and Eric A. Pierce and Emily Place and Raj Ramesar and Francis Ramond and Florence Andrée Rasquin and Gillian I. Rice and Lisa Roberts and María Rodríguez-Hidalgo and Javier Ruiz-Ederra and Ataf H. Sabir and Ai Fujita Sajiki and Ana Isabel Sánchez-Barbero and Asodu Sandeep Sarma and Riccardo Sangermano and Cristina M. Santos and Margherita Scarpato and Hendrik P. N. Scholl and Dror Sharon and Sabrina G. Signorini and Francesca Simonelli and Ana Berta Sousa and Maria Stefaniotou and Kari Stefansson and Katarina Stingl and Akiko Suga and Patrick Sulem and Lori S. Sullivan and Viktória Szabó and Jacek P. Szaflik and Gita Taurina and Alberta A. H. J. Thiadens and Carmel Toomes and Viet H. Tran and Miltiadis K. Tsilimbaris and Pavlina Tsoka and Veronika Vaclavik and Marie Vajter and Sandra Valeina and Enza Maria Valente and Casey Valentine and Rebeca Valero and Sophie Valleix and Joseph van Aerschot and L. Ingeborgh van den Born and Mattias Van Heetvelde and Virginie J. M. Verhoeven and Andrea L. Vincent and Andrew R. Webster and Laura Whelan and Bernd Wissinger and Georgia G. Yioti and Kazutoshi Yoshitake and Juan C. Zenteno and Roberta Zeuli and Theresia Zuleger and Chaim Landau and Allan I. Jacob and Siying Lin and Frans P. M. Cremers and Winston Lee and Jamie M. Ellingford and David Stanek and Susanne Roosing and Carlo Rivolta},
  year = {2026},
  journal = {Nature Genetics},
  doi = {10.1038/s41588-025-02451-4},
  url = {https://doi.org/10.1038/s41588-025-02451-4}
}

RIS

TY  - JOUR
TI  - De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
AU  - Mathieu Quinodoz
AU  - Kim Rodenburg
AU  - Zuzana Cvackova
AU  - Karolina Kaminska
AU  - Suzanne E. de Bruijn
AU  - Ana Belén Iglesias-Romero
AU  - Erica G. M. Boonen
AU  - Mukhtar Ullah
AU  - Nick Zomer
AU  - Marc Folcher
AU  - Jacques Bijon
AU  - Lara K. Holtes
AU  - Stephen H. Tsang
AU  - Zelia Corradi
AU  - K. Bailey Freund
AU  - Stefanida Shliaga
AU  - Daan M. Panneman
AU  - Rebekkah J. Hitti-Malin
AU  - Manir Ali
AU  - Ala’a AlTalbishi
AU  - Sten Andréasson
AU  - Georg Ansari
AU  - Gavin Arno
AU  - Galuh D. N. Astuti
AU  - Carmen Ayuso
AU  - Radha Ayyagari
AU  - Sandro Banfi
AU  - Eyal Banin
AU  - Tahsin Stefan Barakat
AU  - Mirella T. S. Barboni
AU  - Miriam Bauwens
AU  - Tamar Ben-Yosef
AU  - Virginie Bernard
AU  - David G. Birch
AU  - Pooja Biswas
AU  - Fiona Blanco-Kelly
AU  - Beatrice Bocquet
AU  - Camiel J. F. Boon
AU  - Kari Branham
AU  - Dominique Bremond-Gignac
AU  - Alexis Ceecee Britten-Jones
AU  - Kinga M. Bujakowska
AU  - Cyril Burin des Roziers
AU  - Elizabeth L. Cadena
AU  - Giacomo Calzetti
AU  - Francesca Cancellieri
AU  - Luca Cattaneo
AU  - Naomi Chadderton
AU  - Peter Charbel Issa
AU  - Luísa Coutinho-Santos
AU  - Stephen P. Daiger
AU  - Elfride De Baere
AU  - Marieke De Bruyne
AU  - Berta de la Cerda
AU  - John N. De Roach
AU  - Julie De Zaeytijd
AU  - Ronny Derks
AU  - Claire-Marie Dhaenens
AU  - Lubica Dudakova
AU  - Jacque L. Duncan
AU  - G. Jane Farrar
AU  - Nicolas Feltgen
AU  - Beau J. Fenner
AU  - Lidia Fernández-Caballero
AU  - Juliana M. Ferraz Sallum
AU  - Simone Gana
AU  - Alejandro Garanto
AU  - Jessica C. Gardner
AU  - Christian Gilissen
AU  - Roser Gonzàlez-Duarte
AU  - Kensuke Goto
AU  - Sam Griffiths-Jones
AU  - Tobias B. Haack
AU  - Lonneke Haer-Wigman
AU  - Alison J. Hardcastle
AU  - Takaaki Hayashi
AU  - Elise Héon
AU  - Lies H. Hoefsloot
AU  - Alexander Hoischen
AU  - Josephine P. Holtan
AU  - Carel B. Hoyng
AU  - Manuel Benjamin B. Ibanez
AU  - Chris F. Inglehearn
AU  - Takeshi Iwata
AU  - Brynjar O. Jensson
AU  - Kaylie Jones
AU  - Vasiliki Kalatzis
AU  - Smaragda Kamakari
AU  - Marianthi Karali
AU  - Ulrich Kellner
AU  - Caroline C. W. Klaver
AU  - Krisztina Knézy
AU  - Robert K. Koenekoop
AU  - Susanne Kohl
AU  - Taro Kominami
AU  - Laura Kühlewein
AU  - Tina M. Lamey
AU  - Rina Leibu
AU  - Bart P. Leroy
AU  - Petra Liskova
AU  - Irma Lopez
AU  - Victor R. de J. López-Rodríguez
AU  - Quinten Mahieu
AU  - Omar A. Mahroo
AU  - Gaël Manes
AU  - Luke Mansard
AU  - M. Pilar Martín-Gutiérrez
AU  - Nelson Martins
AU  - Laura Mauring
AU  - Martin McKibbin
AU  - Terri L. McLaren
AU  - Isabelle Meunier
AU  - Michel Michaelides
AU  - José M. Millán
AU  - Kei Mizobuchi
AU  - Rajarshi Mukherjee
AU  - Zoltán Zsolt Nagy
AU  - Kornelia Neveling
AU  - Monika Ołdak
AU  - Michiel Oorsprong
AU  - Yang Pan
AU  - Anastasia Papachristou
AU  - Antonio Percesepe
AU  - Maximilian Pfau
AU  - Eric A. Pierce
AU  - Emily Place
AU  - Raj Ramesar
AU  - Francis Ramond
AU  - Florence Andrée Rasquin
AU  - Gillian I. Rice
AU  - Lisa Roberts
AU  - María Rodríguez-Hidalgo
AU  - Javier Ruiz-Ederra
AU  - Ataf H. Sabir
AU  - Ai Fujita Sajiki
AU  - Ana Isabel Sánchez-Barbero
AU  - Asodu Sandeep Sarma
AU  - Riccardo Sangermano
AU  - Cristina M. Santos
AU  - Margherita Scarpato
AU  - Hendrik P. N. Scholl
AU  - Dror Sharon
AU  - Sabrina G. Signorini
AU  - Francesca Simonelli
AU  - Ana Berta Sousa
AU  - Maria Stefaniotou
AU  - Kari Stefansson
AU  - Katarina Stingl
AU  - Akiko Suga
AU  - Patrick Sulem
AU  - Lori S. Sullivan
AU  - Viktória Szabó
AU  - Jacek P. Szaflik
AU  - Gita Taurina
AU  - Alberta A. H. J. Thiadens
AU  - Carmel Toomes
AU  - Viet H. Tran
AU  - Miltiadis K. Tsilimbaris
AU  - Pavlina Tsoka
AU  - Veronika Vaclavik
AU  - Marie Vajter
AU  - Sandra Valeina
AU  - Enza Maria Valente
AU  - Casey Valentine
AU  - Rebeca Valero
AU  - Sophie Valleix
AU  - Joseph van Aerschot
AU  - L. Ingeborgh van den Born
AU  - Mattias Van Heetvelde
AU  - Virginie J. M. Verhoeven
AU  - Andrea L. Vincent
AU  - Andrew R. Webster
AU  - Laura Whelan
AU  - Bernd Wissinger
AU  - Georgia G. Yioti
AU  - Kazutoshi Yoshitake
AU  - Juan C. Zenteno
AU  - Roberta Zeuli
AU  - Theresia Zuleger
AU  - Chaim Landau
AU  - Allan I. Jacob
AU  - Siying Lin
AU  - Frans P. M. Cremers
AU  - Winston Lee
AU  - Jamie M. Ellingford
AU  - David Stanek
AU  - Susanne Roosing
AU  - Carlo Rivolta
PY  - 2026
JO  - Nature Genetics
DO  - 10.1038/s41588-025-02451-4
UR  - https://doi.org/10.1038/s41588-025-02451-4
ER  -

APA

Quinodoz, M., Rodenburg, K., Cvackova, Z., Kaminska, K., Bruijn, S. E. D., Iglesias-Romero, A. B., Boonen, E. G. M., Ullah, M., Zomer, N., Folcher, M., Bijon, J., Holtes, L. K., Tsang, S. H., Corradi, Z., Freund, K. B., Shliaga, S., Panneman, D. M., Hitti-Malin, R. J., Ali, M., AlTalbishi, A., Andréasson, S., Ansari, G., Arno, G., Astuti, G. D. N., Ayuso, C., Ayyagari, R., Banfi, S., Banin, E., Barakat, T. S., Barboni, M. T. S., Bauwens, M., Ben-Yosef, T., Bernard, V., Birch, D. G., Biswas, P., Blanco-Kelly, F., Bocquet, B., Boon, C. J. F., Branham, K., Bremond-Gignac, D., Britten-Jones, A. C., Bujakowska, K. M., Roziers, C. B. D., Cadena, E. L., Calzetti, G., Cancellieri, F., Cattaneo, L., Chadderton, N., Issa, P. C., Coutinho-Santos, L., Daiger, S. P., Baere, E. D., Bruyne, M. D., Cerda, B. D. L., Roach, J. N. D., Zaeytijd, J. D., Derks, R., Dhaenens, C., Dudakova, L., Duncan, J. L., Farrar, G. J., Feltgen, N., Fenner, B. J., Fernández-Caballero, L., Sallum, J. M. F., Gana, S., Garanto, A., Gardner, J. C., Gilissen, C., Gonzàlez-Duarte, R., Goto, K., Griffiths-Jones, S., Haack, T. B., Haer-Wigman, L., Hardcastle, A. J., Hayashi, T., Héon, E., Hoefsloot, L. H., Hoischen, A., Holtan, J. P., Hoyng, C. B., Ibanez, M. B. B., Inglehearn, C. F., Iwata, T., Jensson, B. O., Jones, K., Kalatzis, V., Kamakari, S., Karali, M., Kellner, U., Klaver, C. C. W., Knézy, K., Koenekoop, R. K., Kohl, S., Kominami, T., Kühlewein, L., Lamey, T. M., Leibu, R., Leroy, B. P., Liskova, P., Lopez, I., López-Rodríguez, V. R. D. J., Mahieu, Q., Mahroo, O. A., Manes, G., Mansard, L., Martín-Gutiérrez, M. P., Martins, N., Mauring, L., McKibbin, M., McLaren, T. L., Meunier, I., Michaelides, M., Millán, J. M., Mizobuchi, K., Mukherjee, R., Nagy, Z. Z., Neveling, K., Ołdak, M., Oorsprong, M., Pan, Y., Papachristou, A., Percesepe, A., Pfau, M., Pierce, E. A., Place, E., Ramesar, R., Ramond, F., Rasquin, F. A., Rice, G. I., Roberts, L., Rodríguez-Hidalgo, M., Ruiz-Ederra, J., Sabir, A. H., Sajiki, A. F., Sánchez-Barbero, A. I., Sarma, A. S., Sangermano, R., Santos, C. M., Scarpato, M., Scholl, H. P. N., Sharon, D., Signorini, S. G., Simonelli, F., Sousa, A. B., Stefaniotou, M., Stefansson, K., Stingl, K., Suga, A., Sulem, P., Sullivan, L. S., Szabó, V., Szaflik, J. P., Taurina, G., Thiadens, A. A. H. J., Toomes, C., Tran, V. H., Tsilimbaris, M. K., Tsoka, P., Vaclavik, V., Vajter, M., Valeina, S., Valente, E. M., Valentine, C., Valero, R., Valleix, S., Aerschot, J. V., Born, L. I. V. D., Heetvelde, M. V., Verhoeven, V. J. M., Vincent, A. L., Webster, A. R., Whelan, L., Wissinger, B., Yioti, G. G., Yoshitake, K., Zenteno, J. C., Zeuli, R., Zuleger, T., Landau, C., Jacob, A. I., Lin, S., Cremers, F. P. M., Lee, W., Ellingford, J. M., Stanek, D., Roosing, S., & Rivolta, C. (2026). De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nature Genetics. https://doi.org/10.1038/s41588-025-02451-4

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