biostudies-literatureUnknown33(11)Houdayer CGenome Canada and the Ontario Genomics InstituteUniversity of Zurich clinical research priority program praeclareRare 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 areEuropean journal of human genetics : EJHG1422-1431https://www.ebi.ac.uk/biostudies/studies/S-EPMC12583565biostudies-literatureARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.PMC12583565Keren BDesir Jvan der Laan LRondeau SGripp KWAlders MDenomme-Pichon ASLegoff LDelanne JMilon VMau-Them FTVan der Sluijs PJProcaccio VSadikovic BBruel ALColin EVitobello AProuteau CRauch AThauvin-Robinet CBris CCarallis FGoldenberg AJacquinet ASteindl KPatat OBahr AIsidor BTrost DPhilippe CHoudayer CTessarech MSorlin AMendelsohn BARooney KBournez MRelator RBuhas DMcConkey HMignot CDubourg CDemaret TRambaud TWhalen SBourges AGuimier ABonneau DOneda BPasquier LSanten GWEBattault CBegemann ASchleit JBoughalem ACormier-Daire VGoel HTedder MGenevieve DVincent MBonnevalle AFradin MLevy MAProcopio RNizon MBarcia GGuichet ACogne BfalseARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.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 are2025-01-01T00:00:00Z2025 Nov2026-06-05T11:51:19.491Z2026-05-16T03:12:42.004ZS-EPMC125835654004482210.1038/s41431-025-01798-w