Article
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025
van der Sluijs Pleuntje J, Moutton Sébastien, Dingemans Alexander J M, Weis Denisa, Levy Michael A, Boycott Kym M, Arberas Claudia, Baldassarri Margherita, Beneteau Claire, Brusco Alfredo, Coutton Charles, Dabir Tabib, Dentici Maria L, Devriendt Koenraad, Faivre Laurence, van Haelst Mieke M, Jizi Khadije, Kempers Marlies J, Kerkhof Jennifer, Kharbanda Mira, Lachlan Katherine, Marle Nathalie, McConkey Haley, Mencarelli Maria A, Mowat David, Niceta Marcello, Nicolas Claire, Novelli Antonio, Orlando Valeria, Pichon Olivier, Rankin Julia, Relator Raissa, Ropers Fabienne G, Rosenfeld Jill A, Sachdev Rani, Sandaradura Sarah A, Shukarova-Angelovska Elena, Steenbeek Duco, Tartaglia Marco, Tedder Matthew A, Trajkova Slavica, Winer Norbert, Woods Jeremy, de Vries Bert B A, Sadikovic Bekim, Alders Marielle, Santen Gijs W E
Abstract excerpt
PURPOSE: ARID1A/ARID1B haploinsufficiency leads to Coffin-Siris syndrome, duplications of ARID1A lead to a distinct clinical syndrome, whilst ARID1B duplications have not yet been linked to a phenotype. METHODS: We collected patients with duplications encompassing ARID1A and ARID1B duplications. RESULTS: 16 ARID1A and 13 ARID1B duplication cases were included with duplication sizes ranging from 0.1 to 1.2 Mb...
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