Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
Our findings reveal that ARID1B duplications manifest a clinical phenotype, and ARID1A duplications have a distinct episignature that overlaps with that of ARID1B duplications, providing further evidence for a distinct and emerging BAFopathy caused by whole-gene duplication rather than haploinsufficiency.
Authors
- Marcello Niceta (ORCID: https://orcid.org/0000-0003-4766-7753)
- Elena Shukarova-Angelovska
- Khadijé Jizi
- Gijs W.E. Santen (ORCID: https://orcid.org/0000-0003-1959-3267)
- Antonio Novelli (ORCID: https://orcid.org/0000-0002-9037-4297)
- Valeria Orlando (ORCID: https://orcid.org/0000-0003-2812-6003)
- Claire Bénéteau (ORCID: https://orcid.org/0000-0002-1682-523X)
- Maria Antonietta Mencarelli (ORCID: https://orcid.org/0000-0001-5131-3718)
- Sarah A. Sandaradura (ORCID: https://orcid.org/0000-0003-1393-8148)
- Duco Steenbeek (ORCID: https://orcid.org/0000-0002-4856-4505)
- Slavica Trajkova (ORCID: https://orcid.org/0000-0002-0178-5327)
- Fabienne G. Ropers (ORCID: https://orcid.org/0000-0001-7807-4753)
- Maria Lisa Dentici (ORCID: https://orcid.org/0000-0002-9505-5906)
- Denisa Weis
- Margherita Baldassarri (ORCID: https://orcid.org/0000-0002-0391-1980)
- Marlies Kempers (ORCID: https://orcid.org/0000-0001-9981-6314)
- David Mowat (ORCID: https://orcid.org/0000-0002-3730-0870)
- Charles Coutton (ORCID: https://orcid.org/0000-0002-8873-8098)
- Rani Sachdev (ORCID: https://orcid.org/0000-0003-2750-1430)
- Mariëlle Alders (ORCID: https://orcid.org/0000-0002-7386-4868)
- Jennifer Kerkhof (ORCID: https://orcid.org/0000-0003-1245-6606)
- Raissa Relator (ORCID: https://orcid.org/0000-0002-8153-2222)
- Claudia Arberas
- Pleuntje J. van der Sluijs (ORCID: https://orcid.org/0000-0002-1174-2806)
- Alexander J.M. Dingemans (ORCID: https://orcid.org/0000-0002-5648-2155)
- Alfredo Brusco (ORCID: https://orcid.org/0000-0002-8318-7231)
- Kym M. Boycott (ORCID: https://orcid.org/0000-0003-4186-8052)
- Katherine Lachlan (ORCID: https://orcid.org/0000-0002-3816-7346)
- Mira Kharbanda (ORCID: https://orcid.org/0000-0001-7347-4176)
- Sébastien Moutton (ORCID: https://orcid.org/0000-0002-8942-6731)
- Koenraad Devriendt (ORCID: https://orcid.org/0000-0002-3651-2548)
- Bekim Sadiković (ORCID: https://orcid.org/0000-0001-6363-0016)
- Jeremy D. Woods (ORCID: https://orcid.org/0000-0002-3988-9324)
- Claire Nicolas (ORCID: https://orcid.org/0000-0002-7761-3943)
- Bert de Vries (ORCID: https://orcid.org/0000-0002-2789-2120)
- Mieke M. van Haelst (ORCID: https://orcid.org/0000-0002-7519-0246)
- Haley McConkey
- Norbert Winer
- Laurence Faivre
- Olivier Pichon
- Jill A. Rosenfeld
- Julia Rankin
- Tabib Dabir
- Michael A. Levy
- Nathalie Marle
- Matthew A Tedder
- Marco Tartaglia
Institutions
- Johannes Kepler University of Linz (AT)
- Western University (CA)
- Centre National de la Recherche Scientifique (FR)
- University of Ulster (GB)
- Radboud University Nijmegen (NL)
- Inserm (FR)
- Children's Hospital of Eastern Ontario (CA)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Leiden University Medical Center (NL)
- Maastricht University Medical Centre (NL)
- Centre Hospitalier Universitaire de Grenoble (FR)
- London Health Sciences Centre (CA)
- Princess Anne Hospital (GB)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Belfast City Hospital (GB)
- Radboud University Medical Center (NL)
- University Hospital Southampton NHS Foundation Trust (GB)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Centre Hospitalier Universitaire de Nantes (FR)
- UNSW Sydney (AU)
- Maastricht University (NL)
- Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR)
- University Clinic of Traumatology (AT)
- Center for Human Genetics (US)
- Children's Hospital Central California (US)
- CHU Dijon Bourgogne (FR)
- Kepler Universitätsklinikum (AT)
- Bambino Gesù Children's Hospital (IT)
- Sydney Children's Hospital (AU)
- Department of Medical Sciences (BY)
- Azienda Ospedaliera Universitaria Senese (IT)
- Adelante (NL)
- Sydney Children’s Hospitals Network (AU)
- Greenwood Genetic Center (US)
- Laboratoire d'étude de l'apprentissage et du développement (FR)
- Amsterdam University Medical Centers (NL)
- Laboratoire de Génétique Cellulaire (FR)
- Institut pour l'avancée des biosciences (FR)
- Infirmerie Protestante (FR)
- Baylor Genetics (US)
- PhysioPathologie des Adaptations Nutritionnelles (FR)
- Hospital General de Niños Ricardo Gutierrez (AR)
- University of Turin (IT)
- University of Amsterdam (NL)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2024-09-28
- DOI
- https://doi.org/10.1016/j.gim.2024.101283
- Citations
- 5
- Primary Topic
- Chromatin Remodeling and Cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.17
Funders
- University Hospital Southampton NHS Foundation Trust
- Amsterdam University Medical Centers
- University of Southampton
- Universiteit Leiden
- University of New South Wales
- ZonMw
- Universiteit van Amsterdam
- Universiteit Maastricht
- Ministero della Salute
- Maastricht Universitair Medisch Centrum
- Leids Universitair Medisch Centrum
- Università degli Studi di Torino
- Centre Hospitalier Universitaire de Nantes
- Stichting Dondersfonds
- Centre hospitalier universitaire Sainte-Justine
- Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement
- Faculty of Medicine and Health, University of Sydney