Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Our study further refines the clinical and mutational spectrum of CUL3-associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism. ANN NEUROL 2024.
Authors
- Marwan S. Shinawi (ORCID: https://orcid.org/0000-0003-1329-4100)
- Frédéric Ebstein (ORCID: https://orcid.org/0000-0002-3729-7878)
- Michael Zech (ORCID: https://orcid.org/0000-0001-8112-9153)
- Boris Keren (ORCID: https://orcid.org/0000-0001-6172-8247)
- Stephanie S. Thompson
- Vyne van der Schoot (ORCID: https://orcid.org/0000-0001-9829-9220)
- Giovanni Battista Ferrero (ORCID: https://orcid.org/0000-0002-3793-5788)
- Theresa Brunet (ORCID: https://orcid.org/0000-0002-5183-780X)
- Stephanie DiTroia (ORCID: https://orcid.org/0000-0002-6847-6780)
- Carlos A. Bacino (ORCID: https://orcid.org/0000-0002-4342-5012)
- Mariel Alders
- Peter Michael Krawitz (ORCID: https://orcid.org/0000-0002-3194-8625)
- Cornelia Bußmann
- Evan E. Eichler (ORCID: https://orcid.org/0000-0002-8246-4014)
- Frédéric Tran Mau‐Them (ORCID: https://orcid.org/0000-0002-3795-9456)
- Vassiliki Konstantopoulou (ORCID: https://orcid.org/0000-0002-0997-0391)
- François Lecoquierre (ORCID: https://orcid.org/0000-0002-9110-1856)
- Saskia Brigitte Wortmann (ORCID: https://orcid.org/0000-0002-1968-8103)
- Hannah Klinkhammer (ORCID: https://orcid.org/0000-0003-3752-1275)
- Isabelle Thiffault
- Laurence Olivier Faivre (ORCID: https://orcid.org/0000-0001-9770-444X)
- Tuula Rinne (ORCID: https://orcid.org/0000-0003-4350-8106)
- Colleen Macmurdo
- Pedro A. Sanchez‐Lara (ORCID: https://orcid.org/0000-0003-1181-7828)
- Virginie Vignard (ORCID: https://orcid.org/0000-0002-6702-2824)
- Claudia Ravelli (ORCID: https://orcid.org/0000-0001-9993-074X)
- Sébastien Küry (ORCID: https://orcid.org/0000-0001-5497-0465)
- Juliane Winkelmann (ORCID: https://orcid.org/0000-0002-3074-599X)
- Jordan P. Lerner‐Ellis (ORCID: https://orcid.org/0000-0003-3685-5679)
- Patrick R. Blackburn (ORCID: https://orcid.org/0000-0003-0658-1275)
- Giuseppe Zampino (ORCID: https://orcid.org/0000-0002-2661-4831)
- Ruxandra Bachmann‐Gagescu (ORCID: https://orcid.org/0000-0002-3571-5271)
- Anita M. Rauch (ORCID: https://orcid.org/0000-0003-2930-3163)
- Eric W. Klee (ORCID: https://orcid.org/0000-0003-2946-5795)
- Thomas Courtin (ORCID: https://orcid.org/0000-0002-0275-2498)
- Chantal F. Morel (ORCID: https://orcid.org/0000-0001-9159-2053)
- Robert Jech (ORCID: https://orcid.org/0000-0002-9732-8947)
- Jill A. Madden (ORCID: https://orcid.org/0000-0002-7045-1232)
- Marco Tartaglia (ORCID: https://orcid.org/0000-0001-7736-9672)
- Jill Anne Rosenfeld (ORCID: https://orcid.org/0000-0001-5664-7987)
- Holger Prokisch (ORCID: https://orcid.org/0000-0003-2379-6286)
- Alban Ziegler (ORCID: https://orcid.org/0000-0003-0287-3561)
- Johanna C. Herkert (ORCID: https://orcid.org/0000-0003-0461-9102)
- Francesca Clementina Radio (ORCID: https://orcid.org/0000-0003-1993-8018)
- Bertrand Isidor (ORCID: https://orcid.org/0000-0001-6480-126X)
- Andrea Ciolfi (ORCID: https://orcid.org/0000-0002-6191-0978)
- Pavel N. Pichurin (ORCID: https://orcid.org/0000-0002-6336-136X)
- Tzung‐Chien Hsieh (ORCID: https://orcid.org/0000-0003-3828-4419)
- René G. Feichtinger (ORCID: https://orcid.org/0000-0002-4215-8258)
- Pascal Joset (ORCID: https://orcid.org/0000-0002-4349-9951)
- Marialetizia Motta (ORCID: https://orcid.org/0000-0001-6592-910X)
- Johannes A. Mayr (ORCID: https://orcid.org/0000-0001-6970-336X)
- Ján Necpál (ORCID: https://orcid.org/0000-0002-4626-9588)
- Michele Rapp
- Marie Vincent (ORCID: https://orcid.org/0000-0003-1010-5618)
- Dominique Bonneau (ORCID: https://orcid.org/0000-0002-6886-0969)
- John R. Younce (ORCID: https://orcid.org/0000-0003-4822-9608)
- Cyril Mignot (ORCID: https://orcid.org/0000-0002-3462-3463)
- Alexander P.A. Stegmann (ORCID: https://orcid.org/0000-0002-9736-7137)
- Thomas Smol (ORCID: https://orcid.org/0000-0002-0119-5896)
- Wallid Deb (ORCID: https://orcid.org/0000-0002-5103-8573)
- Linda Hasadsri (ORCID: https://orcid.org/0000-0003-1551-3215)
- Pankaj B. Agrawal (ORCID: https://orcid.org/0000-0003-3255-0456)
- Ingrid P.C. Krapels (ORCID: https://orcid.org/0000-0002-0080-2893)
- Anne‐Marie Guerrot (ORCID: https://orcid.org/0000-0002-4145-7408)
- Stéphane Bezieau (ORCID: https://orcid.org/0000-0003-0095-1319)
- Monika Turčanová Koprušáková (ORCID: https://orcid.org/0000-0002-7864-6560)
- Chloe Mighton
- Katheryn Grand (ORCID: https://orcid.org/0000-0002-9411-2913)
- Thomas Husson (ORCID: https://orcid.org/0000-0002-4088-5021)
- Tianyun Wang (ORCID: https://orcid.org/0000-0002-5179-087X)
- Magalie Barth (ORCID: https://orcid.org/0000-0001-7240-7932)
- Saskia M. Maas (ORCID: https://orcid.org/0000-0002-0703-5439)
- Benjamin Cogné (ORCID: https://orcid.org/0000-0002-5503-6292)
- Alice Goldenberg
- Catherine Vincent‐Delorme
- Charlotte Fung
- Bénédicte Gérard
- Elke Krüger (ORCID: https://orcid.org/0000-0002-2551-242X)
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Broad Institute (US)
- University of North Carolina at Chapel Hill (US)
- Cedars-Sinai Medical Center (US)
- Mount Sinai Hospital (CA)
- Centre National de la Recherche Scientifique (FR)
- St. Michael's Hospital (CA)
- St. Jude Children's Research Hospital (US)
- St. Louis Children's Hospital (US)
- University Health Network (CA)
- Children's Mercy Hospital (US)
- Mayo Clinic (US)
- University Medical Center Groningen (NL)
- Howard Hughes Medical Institute (US)
- University of Bonn (DE)
- University of Miami (US)
- Radboud University Nijmegen (NL)
- Inserm (FR)
- University of Groningen (NL)
- Université de Bourgogne (FR)
- Baylor College of Medicine (US)
- University of Toronto (CA)
- University of Washington (US)
- Peking University (CN)
- University of Zurich (CH)
- Washington University in St. Louis (US)
- Lunenfeld-Tanenbaum Research Institute (CA)
- Charles University (CZ)
- Université de Lille (FR)
- National Health and Family Planning Commission (CN)
- Paracelsus Medical University (AT)
- Universitätsmedizin Greifswald (DE)
- Maastricht University Medical Centre (NL)
- University Hospital of Basel (CH)
- Agostino Gemelli University Polyclinic (IT)
- TUM Klinikum (DE)
- Radboud University Medical Center (NL)
- Helmholtz Zentrum München (DE)
- Centre Hospitalier Universitaire de Lille (FR)
- Centre Hospitalier Universitaire de Nantes (FR)
- Maastricht University (NL)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Jackson Health System (US)
- Institut für Medizinische Biometrie, Informatik und Epidemiologie (DE)
- Children's Hospital Colorado (US)
- Technická univerzita vo Zvolene (SK)
- Baylor Scott & White Medical Center - Temple (US)
- Hôpital Jeanne de Flandre (FR)
- Normandie Université (FR)
- Munich Cluster for Systems Neurology (DE)
- Université Bourgogne Franche-Comté (FR)
- Pitié-Salpêtrière Hospital (FR)
- Bambino Gesù Children's Hospital (IT)
- Centre Hospitalier du Rouvray (FR)
- Sinai Health System (CA)
- Institute for Advanced Study (DE)
- Institut du Thorax (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Mayo Clinic in Florida (US)
- Génétique Médicale & Génomique Fonctionelle (FR)
- Baylor Genetics (US)
- Unity Health Toronto
- Université d'Angers (FR)
- University of Turin (IT)
- Université de Rouen Normandie (FR)
- Technical University of Munich (DE)
- Comenius University Bratislava (SK)
- Medical University of Vienna (AT)
- Ludwig-Maximilians-Universität München (DE)
- University of Amsterdam (NL)
- University of Colorado Denver (US)
- Nantes Université (FR)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2024-09-20
- DOI
- https://doi.org/10.1002/ana.27077
- Citations
- 9
- Primary Topic
- Ubiquitin and proteasome pathways
- Type
- article
- Field-Weighted Citation Impact
- 1.87
Funders
- National Natural Science Foundation of China
- National Institutes of Health
- Fundamental Research Funds for the Central Universities