{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["van Oirsouw ASE"],"funding":["US NINDS","Dutch Research Council (NWO)","Wilhelmina Children's Hospital Research Fund","NINDS NIH HHS","Stichting 12q","ZonMw","Wellcome Trust","Wilhelmina Children’s Hospital Research Fund"],"pagination":["1353-1367"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12361114"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["34(16)"],"pubmed_abstract":["Rare variants affecting the epigenetic regulator KDM2B cause a recently delineated neurodevelopmental disorder. Interestingly, we previously identified both a general KDM2B-associated episignature and a subsignature specific to variants in the DNA-binding CxxC domain. In light of the existence of a distinct subsignature, we set out to determine if KDM2B CxxC variants are associated with a unique phenotype and disease mechanism. We recruited individuals with heterozygous CxxC variants and assessed the variants' effect on protein expression and DNA-binding ability. We analyzed clinical data from 19 individuals, including ten previously undescribed individuals with seven novel CxxC variants. The core phenotype of the KDM2B-CxxC cohort is more extensive as compared to that of individuals with "],"journal":["Human molecular genetics"],"pubmed_title":["KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome."],"pmcid":["PMC12361114"],"funding_grant_id":["09150172110002","K08NS117891-01","WKZ onderzoeksfonds 2020-2021","K08 NS117891"],"pubmed_authors":["Dunnington L","Beil A","Alders M","Barakat TS","Oegema R","Assia Batzir N","Peters EDJ","Maya I","McEntagart M","Genetti CA","Januel L","Koeleman BPC","Baralle D","Bonnet-Dupeyron MN","Pujalte M","Boone PM","Bouman A","Hadders MA","Walker S","Northrup H","Richardson K","Joshi A","Koetsier M","Isidor B","Farach LS","Lahiri N","van Oirsouw ASE","Carere DA","Lee KN","van Jaarsveld RH","Cogne B"],"additional_accession":[]},"is_claimable":false,"name":"KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.","description":"Rare variants affecting the epigenetic regulator KDM2B cause a recently delineated neurodevelopmental disorder. Interestingly, we previously identified both a general KDM2B-associated episignature and a subsignature specific to variants in the DNA-binding CxxC domain. In light of the existence of a distinct subsignature, we set out to determine if KDM2B CxxC variants are associated with a unique phenotype and disease mechanism. We recruited individuals with heterozygous CxxC variants and assessed the variants' effect on protein expression and DNA-binding ability. We analyzed clinical data from 19 individuals, including ten previously undescribed individuals with seven novel CxxC variants. The core phenotype of the KDM2B-CxxC cohort is more extensive as compared to that of individuals with ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-05-29T17:08:34.999Z","creation":"2026-04-08T05:28:00.657Z"},"accession":"S-EPMC12361114","cross_references":{"pubmed":["40420380"],"doi":["10.1093/hmg/ddaf082"]}}