Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rocio Rius; Alexander J M Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C Bramswig; Frederik Braun; Daniel Buchzik; Daniel G Calame; Jamie Campbell; Charles Coutton; Chloe A Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J Ewans; Vanessa Geiger; Richard A Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J Leventer; Rebecca J Levy; James R Lupski; Pierre Marijon; Kaitlin E McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E Posey; Chloe M Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J Sanders; Siddharth Banka; Gregory M Findlay; Daniel G MacArthur; Cas Simons; Nicola Whiffin

doi:10.1038/s41588-026-02636-5

. 2026 May 18;58(6):1447. doi: 10.1038/s41588-026-02636-5

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rocio Rius ^1,^2,^#, Alexander J M Blakes ^3,^4,^#, Yuyang Chen ^5,⁶, Joachim De Jonghe ⁷, François Lecoquierre ^5,⁸, Ruebena Dawes ^5,⁶, Benjamin Cogne ^9,¹⁰, Hyung Chul Kim ^5,⁶, Javeria R Alvi ¹¹, Florence Amblard ^12,^13,¹⁴, Morad Ansari ¹⁵, Annabelle Arlt ¹⁶, Christina Austin-Tse ^17,^18,¹⁹, Sarah Baer ^20,²¹, Meena Balasubramanian ^22,²³, Elsa V Balton ²⁴, Giulia Barcia ^25,²⁶, Ana Beleza-Meireles ²⁷, Jonathan A Bernstein ²⁸, Jasmin Beygo ²⁹, Pierre Blanc ³⁰, Nuria C Bramswig ³¹, Frederik Braun ²⁹, Daniel Buchzik ³², Daniel G Calame ^33,³⁴, Jamie Campbell ¹⁵, Charles Coutton ^12,^13,¹⁴, Chloe A Cunningham ^35,³⁶, Nitsuh Dargie ²⁴, Christel Depienne ²⁹, Katrina M Dipple ^37,³⁸, Anne Dieux ^39,⁴⁰, Abhijit Dixit ⁴¹, Lauren Dreyer ⁴², Haowei Du ⁴³, Salima El Chehadeh ^44,⁴⁵, Michael Field ⁴⁶, Lisa J Ewans ^47,^48,⁴⁹, Vanessa Geiger ⁵⁰, Richard A Gibbs ^43,⁵¹, Ian Glass ^37,³⁸, Olivier Grunewald ^52,⁵³, Paul Gueguen ^30,^54,⁵⁵, Tobias B Haack ⁵⁶, Hamza Hadj Abdallah ^25,²⁶, Radu Harbuz ^12,^13,¹⁴, Ingo Helbig ^57,^58,^59,⁶⁰, Judit Horvath ³¹, Alexander Hustinx ¹⁶, Bertrand Isidor ⁶¹, Marie-Line Jacquemont ^54,^55,⁶², Fraser Jamie ⁶³, Médéric Jeanne ^54,^55,^62,⁶⁴, Riley Kessler ⁵⁹, Hannah Klinkhammer ^16,⁶⁵, G Christoph Korenke ⁶⁶, Urania Kotzaeridou ⁶⁷, Peter Krawitz ¹⁶, Steven Laurie ^68,⁶⁹, Richard J Leventer ^36,^70,⁷¹, Rebecca J Levy ⁷², James R Lupski ^34,^43,^51,⁷³, Pierre Marijon ³⁰, Kaitlin E McGinnis ⁴², Rodrigo Mendez ⁷⁴, Olfa Messaoud ^17,^18,^75,⁷⁶, Caroline Nava ^30,⁷⁷, Mevyn Nizard ^25,^26,⁷⁸, Anne O’Donnell-Luria ^17,^18,^75,⁷⁹, Melanie C O’Leary ¹⁷, Simone Olivieri ⁵⁶, Amitav Parida ⁸⁰, Davut Pehlivan ^33,³⁴, Anna Jenne Prentice ^57,⁵⁹, Jennifer E Posey ⁴³, Chloe M Reuter ^28,⁷⁴, Véronique Satre ^12,^13,¹⁴, Caroline Schluth-Bolard ^13,⁸¹, Thomas Smol ³⁹, Tipu Sultan ¹¹, John Taylor ⁸², Christel Thauvin-Robinet ⁸³, Julien Thevenon ^12,^13,¹⁴, Eloise Uebergang ⁷⁰, Sandra Ueberberg ²⁹, Catherine Vincent-Delorme ^40,⁸⁴, Evangeline Wassmer ^85,⁸⁶, Emma Westwood ⁸⁷, Matthew T Wheeler ⁷⁴, Elif Yilmaz Gulec ^88,⁸⁹, Adeline Vanderver ^59,⁶⁰, Arastoo Vossough ⁹⁰, Stephan J Sanders ^91,⁹², Siddharth Banka ^3,⁴, Gregory M Findlay ⁷, Daniel G MacArthur ^1,², Cas Simons ^1,^2,^✉, Nicola Whiffin ^5,^6,^17,^✉

¹Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, New South Wales Australia

²Centre for Population Genomics, Murdoch Children’s Research Institute, Melbourne, Victoria Australia

³Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK

⁴Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK

⁵Big Data Institute, University of Oxford, Oxford, UK

⁶Centre for Human Genetics, University of Oxford, Oxford, UK

⁷The Genome Function Laboratory, The Francis Crick Institute, London, UK

⁸Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France

⁹Nantes Université, CHU de Nantes, CNRS, INSERM, l’institut du thorax, Nantes, France

¹⁰Nantes Université, CHU de Nantes, CNRS, INSERM, Génétique médicale, Nantes, France

¹¹Department of Pediatric Neurology, University of Child Health Sciences, The Children’s Hospital, Lahore, Pakistan

¹²Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France

¹³GCS AURAGEN, Lyon, France

¹⁴Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France

¹⁵South East Scotland Clinical Genetics Service, NHS lothian, Edinburgh, UK

¹⁶Institute for Genomic Statistics and Bioinformatics, Medical Faculty, University of Bonn, Bonn, Germany

¹⁷Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA USA

¹⁸Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA USA

¹⁹Department of Pathology, Harvard Medical School, Boston, MA USA

²⁰Department of Neuropediatrics, ERN EpiCare, French Centre de référence des Épilepsies Rares (CréER), Hôpitaux Universitaires de Strasbourg, Strasbourg, France

²¹Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, Illkirch, France

²²Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK

²³Sheffield Clinical Genomics Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK

²⁴Department of Medicine, University of Washington School of Medicine, Seattle, WA USA

²⁵Genomic Medecine of Rare Disease, Necker Hospital, Paris, France

²⁶Imagine Institute, Paris, France

²⁷Clinical Genetics Department, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

²⁸Department of Pediatrics, Stanford University School of Medicine, Stanford, CA USA

²⁹Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany

³⁰Laboratoire SeqOIA, Paris, France

³¹Department of Medical Genetics, Centre of Medical Genetics, University and University Hospital Münster, Münster, Germany

³²Department of Neuropediatrics, Diak Klinikum Landkreis Schwäbisch Hall, Schwäbisch Hall, Germany

³³Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX USA

³⁴Texas Children’s Hospital, Houston, TX USA

³⁵Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Victoria Australia

³⁶Department of Paediatrics, University of Melbourne, Melbourne, Victoria Australia

³⁷Department of Pediatrics, University of Washington, Seattle, WA USA

³⁸Brotman Baty Institute for Precision Medicine, Seattle, WA USA

³⁹CHU Lille, ULR7364 – RADEME – Maladies Rares du Développement Embryonnaire, Lille, France

⁴⁰Clinique de Génétique, Hôpital Jeanne de Flandre, CHU de Lille, Lille, France

⁴¹Clinical Genetics, Nottingham University Hospitals, Nottingham, UK

⁴²Genetic Health WA, Perth, Western Australia Australia

⁴³Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA

⁴⁴Service de Génétique Médicale, Institut de Génétique Médicale D’Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

⁴⁵Laboratoire de Génétique Médicale, Institut de Génétique Médicale d’Alsace, INSERM UMRS_1112, CRBS, Université de Strasbourg, Strasbourg, France

⁴⁶Genetics of Learning Disability Service, Hunter Genetics, Waratah, Western Australia Australia

⁴⁷Centre for Clinical Genetics, Sydney Children’s Hospitals Network, Sydney, New South Wales Australia

⁴⁸Genomics and Inherited Diseases Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales Australia

⁴⁹Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales Australia

⁵⁰Genetikum, MVZ genetikum GmbH, Neu-Ulm, Germany

⁵¹Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX USA

⁵²U1172-LilNCog-Lille Neuroscience & Cognition, CHU de Lille, Lille, France

⁵³Laboratoire de Genopathies, CHU Lille, Lille, France

⁵⁴Service de Génétique, CHRU de Tours, Tours, France

⁵⁵Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN, Tours, France

⁵⁶Institute of Medical Genetics and Applied Genomics, Eberhard Karls University, Tübingen, Germany

⁵⁷The Epilepsy NeuroGenetics Initiative (ENGIN), Children’s Hospital of Philadelphia, Philadelphia, PA USA

⁵⁸Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children’s Hospital of Philadelphia, Philadelphia, PA USA

⁵⁹Division of Neurology, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA USA

⁶⁰Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA

⁶¹Service de Génétique Médicale, Institut de Génétique Médicale D’Alsace, Centre Hospitalier Universitaire de Nantes, Nantes, France

⁶²Centre de Référence Maladies Rares “Anomalies du Développement et Syndromes Malformatifs”, FHU Genomeds, CHRU de Tours, Tours, France

⁶³Rare Disease Institute, Division of Genetics and Metabolism and Center for Genetic Medicine Research, Children’s National Hospital, Washington, DC USA

⁶⁴PRISME division for congenital and Developmental Disorders, Department of Genetics, Hôpital de l’Estran, Avranches, France

⁶⁵Institute for Medical Biometry and Statistics, Marburg University, Marburg, Germany

⁶⁶Department of Neuropediatrics, University Children’s Hospital, Klinikum Oldenburg, Oldenburg, Germany

⁶⁷Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany

⁶⁸Centro Nacional de Análisis Genómico (CNAG), Baldiri Reixac 4, Barcelona, Spain

⁶⁹Universitat de Barcelona (UB), Barcelona, Spain

⁷⁰Murdoch Children’s Research Institute, Melbourne, Victoria Australia

⁷¹Royal Children’s Hospital, Melbourne, Victoria Australia

⁷²Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA USA

⁷³Department of Pediatrics, Baylor College of Medicine, Houston, TX USA

⁷⁴Cardiovascular Medicine, Stanford University, Stanford, CA USA

⁷⁵Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA USA

⁷⁶Harvard Medical School, Boston, MA USA

⁷⁷Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Département de Génétique, Hôpital de la Pitié Salpêtrière, Paris, France

⁷⁸Paris Cité University, Paris, France

⁷⁹Department of Pediatrics, Harvard Medical School, Boston, MA USA

⁸⁰Department of Paediatric Neurology, Birmingham Women’s and Children’s Hospital Foundation Trust, Birmingham, UK

⁸¹Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d’Alsace, INSERM UMRS_1112, Université de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

⁸²Department of Radiology, NHS lothian, Edinburgh, UK

⁸³Université Bourgogne Europe - CHU Dijon Bourgogne - Inserm U1231 CTM GAD, Centre de Référence des maladies neurogénétiques, Laboratoire de Génomique Médicale, Dijon, France

⁸⁴Consultation de génétique, CH Arras, Arras, France

⁸⁵Birmingham Children’s Hospital, Birmingham, UK

⁸⁶Institute of Health and Neurodevelopment, Aston University, Birmingham, UK

⁸⁷NHS Education for Scotland, NHS Scotland, Edinburgh, UK

⁸⁸Department of Medical Genetics, Istanbul Medeniyet University Medical School, Istanbul, Turkey

⁸⁹Medical Genetics Clinic, Istanbul Goztepe Prof Dr Suleyman Yalcin City Hospital, Istanbul, Turkey

⁹⁰Department of Radiology, Children’s Hospital of Philadelphia, Philadelphia, PA USA

⁹¹Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK

⁹²Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA USA

^✉

Corresponding author.

^#

Contributed equally.

PMCID: PMC13263147 PMID: 42151417

Correction to: Nature Genetics 10.1038/s41588-026-02554-6, published online 8 April 2026.

In the version of this article initially published, the last name of Christel Thauvin-Robinet was misspelled (Thauvin-Robinetvin) and is now amended in the HTML and PDF versions of the article.

Contributor Information

Cas Simons, Email: cas.simons@populationgenomics.org.au.

Nicola Whiffin, Email: nwhiffin@well.ox.ac.uk.

PERMALINK

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rocio Rius

Alexander J M Blakes

Yuyang Chen

Joachim De Jonghe

François Lecoquierre

Ruebena Dawes

Benjamin Cogne

Hyung Chul Kim

Javeria R Alvi

Florence Amblard

Morad Ansari

Annabelle Arlt

Christina Austin-Tse

Sarah Baer

Meena Balasubramanian

Elsa V Balton

Giulia Barcia

Ana Beleza-Meireles

Jonathan A Bernstein

Jasmin Beygo

Pierre Blanc

Nuria C Bramswig

Frederik Braun

Daniel Buchzik

Daniel G Calame

Jamie Campbell

Charles Coutton

Chloe A Cunningham

Nitsuh Dargie

Christel Depienne

Katrina M Dipple

Anne Dieux

Abhijit Dixit

Lauren Dreyer

Haowei Du

Salima El Chehadeh

Michael Field

Lisa J Ewans

Vanessa Geiger

Richard A Gibbs

Ian Glass

Olivier Grunewald

Paul Gueguen

Tobias B Haack

Hamza Hadj Abdallah

Radu Harbuz

Ingo Helbig

Judit Horvath

Alexander Hustinx

Bertrand Isidor

Marie-Line Jacquemont

Fraser Jamie

Médéric Jeanne

Riley Kessler

Hannah Klinkhammer

G Christoph Korenke

Urania Kotzaeridou

Peter Krawitz

Steven Laurie

Richard J Leventer

Rebecca J Levy

James R Lupski

Pierre Marijon

Kaitlin E McGinnis

Rodrigo Mendez

Olfa Messaoud

Caroline Nava

Mevyn Nizard

Anne O’Donnell-Luria

Melanie C O’Leary

Simone Olivieri

Amitav Parida

Davut Pehlivan

Anna Jenne Prentice

Jennifer E Posey

Chloe M Reuter

Véronique Satre

Caroline Schluth-Bolard