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.

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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

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article

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

Marcello Niceta, Elena Shukarova-Angelovska, Khadijé Jizi, Gijs W.E. Santen et al.
5 citations
Genetics in Medicine
Chromatin Remodeling and Cancer
1.17
article

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

Marcello Niceta, Elena Shukarova-Angelovska, Khadijé Jizi, Gijs W.E. Santen, Antonio Novelli, Valeria Orlando, Claire Bénéteau, Maria Antonietta Mencarelli, Sarah A. Sandaradura, Duco Steenbeek, Slavica Trajkova, Fabienne G. Ropers, Maria Lisa Dentici, Denisa Weis, Margherita Baldassarri, Marlies Kempers, David Mowat, Charles Coutton, Rani Sachdev, Mariëlle Alders, Jennifer Kerkhof, Raissa Relator, Claudia Arberas, Pleuntje J. van der Sluijs, Alexander J.M. Dingemans, Alfredo Brusco, Kym M. Boycott, Katherine Lachlan, Mira Kharbanda, Sébastien Moutton, Koenraad Devriendt, Bekim Sadiković, Jeremy D. Woods, Claire Nicolas, Bert de Vries, Mieke M. van Haelst, 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
article en
5 citations

Abstract

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.

Genetics in MedicineVol. 27(1)
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)
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
Zero hunger
Openalex Percentile: Top 22%
Chromatin Remodeling and Cancer
1.17
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