{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lessel I"],"funding":["Austrian Science Fund FWF","NICHD NIH HHS","NHGRI NIH HHS","National Institute for Health Research (NIHR)","NINDS NIH HHS"],"pagination":["394-413"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11866971"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["112(2)"],"pubmed_abstract":["BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive. To dissect these, we performed genotype-phenotype correlations of 92 affected individuals harboring a pathogenic or likely pathogenic BCL11B variant, followed by immune phenotyping, analysis of chromatin immunoprecipitation DNA-sequencing data, dual-luciferase reporter assays, and molecular modeling. These integrative analyses enabled us to define three clinical subtypes "],"journal":["American journal of human genetics"],"pubmed_title":["DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders."],"pmcid":["PMC11866971"],"funding_grant_id":["U01 NS134350","I 6657","U01 HG007672","NIHR203308","R01 HD109342"],"pubmed_authors":["Tolosa E","Undiagnosed Diseases Network","Haack TB","Mancardi M","Elgizouli M","Iascone M","Nevay DL","Leppala J","Wieczorek D","Lyon GJ","Sebastian J","Chappe C","Lupski JR","Schrauwen I","Afenjar A","Averdunk L","Nigro V","Chandler KE","Isidor B","Hadonou M","Lessel D","Deb W","Harasink SM","Yuan B","Lessel I","Madan-Khetarpal S","Pappas J","Baresic A","Maeding N","Calle-Martin O","Kubisch C","Szakszon K","May J","Posey JE","Dubourg C","Kalinauskiene R","Kessler E","Leal SM","Josifova D","Dilena R","Jin JJ","Rabin R","Begtrup A","Rekab A","Platzer K","Luu SM","Banka S","Morel CF","Chong HJ","Tan QKG","Marchi E","Pastore MT","Menendez B","Capra V","Huning I","Hanker B","Brugger M","Cogne B","Kuechler A","Kamsteeg EJ","Mehta L","Keren B","Jorge AAL","Chinn IK","Gucsavas-Calikoglu M","Besnard T","Kolbel H","Sidlow R","Strunk D","Romano F","Wagner M","Fernandes E","Kozenko M","Robert L","Brager R","Goenka A","Sullivan J","Byrne S","Cardenas P","Cope H","Oegema R","Scala M","Fitzgerald KK","Rezende RC","Brick L","Brunet T","Gangi S","Poths K","Conboy E","Bedeschi MF","Perilla-Young Y","Courtin T","George-Abraham JK","Short J","Powell-Hamilton N","Jarvela I","Odent S"],"additional_accession":[]},"is_claimable":false,"name":"DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.","description":"BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive. To dissect these, we performed genotype-phenotype correlations of 92 affected individuals harboring a pathogenic or likely pathogenic BCL11B variant, followed by immune phenotyping, analysis of chromatin immunoprecipitation DNA-sequencing data, dual-luciferase reporter assays, and molecular modeling. These integrative analyses enabled us to define three clinical subtypes ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Feb","modification":"2026-06-01T08:52:39.974Z","creation":"2025-04-07T11:30:32.05Z"},"accession":"S-EPMC11866971","cross_references":{"pubmed":["39798569"],"doi":["10.1016/j.ajhg.2024.12.012"]}}