{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["33(11)"],"submitter":["Houdayer C"],"funding":["Genome Canada and the Ontario Genomics Institute","University of Zurich clinical research priority program praeclare"],"pubmed_abstract":["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 condition. We obtained the genotypes and phenotypes of 27 previously unreported individuals with ARID2-RD and compared this series with findings in the literature. We also assessed peripheral blood DNA methylation profiles in individuals with ARID2-RD compared to episignatures of controls, unresolved cases, and other neurodevelopmental disorders. The main clinical features of ARID2-RD are"],"journal":["European journal of human genetics : EJHG"],"pagination":["1422-1431"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12583565"],"repository":["biostudies-literature"],"pubmed_title":["ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature."],"pmcid":["PMC12583565"],"pubmed_authors":["Keren B","Desir J","van der Laan L","Rondeau S","Gripp KW","Alders M","Denomme-Pichon AS","Legoff L","Delanne J","Milon V","Mau-Them FT","Van der Sluijs PJ","Procaccio V","Sadikovic B","Bruel AL","Colin E","Vitobello A","Prouteau C","Rauch A","Thauvin-Robinet C","Bris C","Carallis F","Goldenberg A","Jacquinet A","Steindl K","Patat O","Bahr A","Isidor B","Trost D","Philippe C","Houdayer C","Tessarech M","Sorlin A","Mendelsohn BA","Rooney K","Bournez M","Relator R","Buhas D","McConkey H","Mignot C","Dubourg C","Demaret T","Rambaud T","Whalen S","Bourges A","Guimier A","Bonneau D","Oneda B","Pasquier L","Santen GWE","Battault C","Begemann A","Schleit J","Boughalem A","Cormier-Daire V","Goel H","Tedder M","Genevieve D","Vincent M","Bonnevalle A","Fradin M","Levy MA","Procopio R","Nizon M","Barcia G","Guichet A","Cogne B"],"additional_accession":[]},"is_claimable":false,"name":"ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.","description":"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 condition. We obtained the genotypes and phenotypes of 27 previously unreported individuals with ARID2-RD and compared this series with findings in the literature. We also assessed peripheral blood DNA methylation profiles in individuals with ARID2-RD compared to episignatures of controls, unresolved cases, and other neurodevelopmental disorders. The main clinical features of ARID2-RD are","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Nov","modification":"2026-06-05T11:51:19.491Z","creation":"2026-05-16T03:12:42.004Z"},"accession":"S-EPMC12583565","cross_references":{"pubmed":["40044822"],"doi":["10.1038/s41431-025-01798-w"]}}