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.

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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

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article

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Marwan S. Shinawi, Frédéric Ebstein, Michael Zech, Boris Keren et al.
9 citations
Annals of Neurology
Ubiquitin and proteasome pathways
1.87
article

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Marwan S. Shinawi, Frédéric Ebstein, Michael Zech, Boris Keren, Stephanie S. Thompson, Vyne van der Schoot, Giovanni Battista Ferrero, Theresa Brunet, Stephanie DiTroia, Carlos A. Bacino, Mariel Alders, Peter Michael Krawitz, Cornelia Bußmann, Evan E. Eichler, Frédéric Tran Mau‐Them, Vassiliki Konstantopoulou, François Lecoquierre, Saskia Brigitte Wortmann, Hannah Klinkhammer, Isabelle Thiffault, Laurence Olivier Faivre, Tuula Rinne, Colleen Macmurdo, Pedro A. Sanchez‐Lara, Virginie Vignard, Claudia Ravelli, Sébastien Küry, Juliane Winkelmann, Jordan P. Lerner‐Ellis, Patrick R. Blackburn, Giuseppe Zampino, Ruxandra Bachmann‐Gagescu, Anita M. Rauch, Eric W. Klee, Thomas Courtin, Chantal F. Morel, Robert Jech, Jill A. Madden, Marco Tartaglia, Jill Anne Rosenfeld, Holger Prokisch, Alban Ziegler, Johanna C. Herkert, Francesca Clementina Radio, Bertrand Isidor, Andrea Ciolfi, Pavel N. Pichurin, Tzung‐Chien Hsieh, René G. Feichtinger, Pascal Joset, Marialetizia Motta, Johannes A. Mayr, Ján Necpál, Michele Rapp, Marie Vincent, Dominique Bonneau, John R. Younce, Cyril Mignot, Alexander P.A. Stegmann, Thomas Smol, Wallid Deb, Linda Hasadsri, Pankaj B. Agrawal, Ingrid P.C. Krapels, Anne‐Marie Guerrot, Stéphane Bezieau, Monika Turčanová Koprušáková, Chloe Mighton, Katheryn Grand, Thomas Husson, Tianyun Wang, Magalie Barth, Saskia M. Maas, Benjamin Cogné, Alice Goldenberg, Catherine Vincent‐Delorme, Charlotte Fung, Bénédicte Gérard, Elke Krüger
article en
9 citations

Abstract

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.

Annals of NeurologyVol. 97(1)
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)
National Natural Science Foundation of China, National Institutes of Health, Fundamental Research Funds for the Central Universities
Openalex Percentile: Top 14%
Ubiquitin and proteasome pathways
1.87
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