Article
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
European journal of human genetics : EJHG - 1 Nov 2025
Houdayer Clara, Rooney Kathleen, van der Laan Liselot, Bris Céline, Alders Mariëlle, Bahr Angela, Barcia Giulia, Battault Clarisse, Begemann Anais, Bonneau Dominique, Bonnevalle Antoine, Boughalem Aicha, Bourges Alice, Bournez Marie, Bruel Ange-Line, Buhas Daniela, Carallis Floriane, Cogné Benjamin, Cormier-Daire Valérie, Delanne Julian, Demaret Tanguy, Denommé-Pichon Anne-Sophie, Désir Julie, Dubourg Christèle, Fradin Mélanie, Geneviève David, Goel Himanshu, Goldenberg Alice, Gripp Karen W, Guichet Agnès, Guimier Anne, Jacquinet Adeline, Keren Boris, Legoff Louis, Levy Michael A, McConkey Haley, Mendelsohn Bryce A, Mignot Cyril, Milon Vincent, Nizon Mathilde, Oneda Beatrice, Pasquier Laurent, Patat Olivier, Philippe Christophe, Procaccio Vincent, Procopio Rebecca, Prouteau Clément, Rambaud Thomas, Rauch Anita, Relator Raissa, Rondeau Sophie, Santen Gijs W E, Schleit Jennifer, Sorlin Arthur, Steindl Katharina, Tedder Matt, Tessarech Marine, Mau-Them Frédéric Tran, Trost Detlef, Van der Sluijs Pleuntje J, Vincent Marie, Whalen Sandra, Thauvin-Robinet Christel, Isidor Bertrand, Sadikovic Bekim, Vitobello Antonio, Colin Estelle
Abstract excerpt
Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum of ARID2-RD, providing clinicians with additional data for better care and aid in the future diagnosis of this...
Read the complete abstract on PubMed