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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

dc.rights.licenseopenen_US
dc.contributor.authorSABBAGH, Quentin
dc.contributor.authorHAGHSHENAS, Sadegheh
dc.contributor.authorPIARD, Juliette
dc.contributor.authorTROUVÉ, Chloé
dc.contributor.authorAMIEL, Jeanne
dc.contributor.authorATTIÉ-BITACH, Tania
dc.contributor.authorBALCI, Tugce
dc.contributor.authorBARAT-HOUARI, Mouna
dc.contributor.authorBELONIS, Alyce
dc.contributor.authorBOUTE, Odile
dc.contributor.authorBRIGHTMAN, Diana S
dc.contributor.authorBRUEL, Ange-Line
dc.contributor.authorCARAFFI, Stefano Giuseppe
dc.contributor.authorCHATRON, Nicolas
dc.contributor.authorCOLLET, Corinne
dc.contributor.authorDUFOUR, William
dc.contributor.authorEDERY, Patrick
dc.contributor.authorFONG, Chin-To
dc.contributor.authorFUSCO, Carlo
dc.contributor.authorGATINOIS, Vincent
dc.contributor.authorGOUY, Evan
dc.contributor.authorGUERROT, Anne-Marie
dc.contributor.authorHEIDE, Solveig
dc.contributor.authorJOSHI, Aakash
dc.contributor.authorKARP, Natalya
dc.contributor.authorKEREN, Boris
dc.contributor.authorLESIEUR-SEBELLIN, Marion
dc.contributor.authorLEVY, Jonathan
dc.contributor.authorLEVY, Michael A
dc.contributor.authorLOZANO, Claire
dc.contributor.authorLYONNET, Stanislas
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMARGOT, Henri
dc.contributor.authorMARZIN, Pauline
dc.contributor.authorMCCONKEY, Haley
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
dc.contributor.authorNICOLAS, Gaël
dc.contributor.authorNIZARD, Mevyn
dc.contributor.authorPAULET, Alix
dc.contributor.authorPELUSO, Francesca
dc.contributor.authorPERNIN, Vincent
dc.contributor.authorPERRIN, Laurence
dc.contributor.authorPHILIPPE, Christophe
dc.contributor.authorPRASAD, Chitra
dc.contributor.authorPRASAD, Madhavi
dc.contributor.authorRELATOR, Raissa
dc.contributor.authorRIO, Marlène
dc.contributor.authorRONDEAU, Sophie
dc.contributor.authorRUAULT, Valentin
dc.contributor.authorRUIZ-PALLARES, Nathalie
dc.contributor.authorSANCHEZ, Elodie
dc.contributor.authorSHEARS, Debbie
dc.contributor.authorSIU, Victoria Mok
dc.contributor.authorSORLIN, Arthur
dc.contributor.authorTEDDER, Matthew
dc.contributor.authorTHARREAU, Mylène
dc.contributor.authorMAU-THEM, Frédéric Tran
dc.contributor.authorVAN DER LAAN, Liselot
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorVAN GILS, Julien
dc.contributor.authorVERLOES, Alain
dc.contributor.authorWHALEN, Sandra
dc.contributor.authorWILLEMS, Marjolaine
dc.contributor.authorYAUY, Kévin
dc.contributor.authorZUNTINI, Roberta
dc.contributor.authorKERKHOF, Jennifer
dc.contributor.authorSADIKOVIC, Bekim
dc.contributor.authorGENEVIÈVE, David
dc.date.accessioned2024-12-10T10:55:23Z
dc.date.available2024-12-10T10:55:23Z
dc.date.issued2024-01-01
dc.identifier.issn1530-0366en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/203815
dc.description.abstractEnBCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with facial features and impaired immune function. This study presents an in-depth clinico-biological analysis of 20 newly reported individuals with BCL11B-RD, coupled with a characterization of genome-wide DNA methylation patterns of this genetic condition. Through an international collaboration, clinical and molecular data from 20 individuals were systematically gathered, and a comparative analysis was conducted between this series and existing literature. We further scrutinized peripheral blood DNA methylation profile of individuals with BCL11B-RD, contrasting them with healthy controls and other neurodevelopmental disorders marked by established episignature. Our findings unveil rarely documented clinical manifestations, notably including Rubinstein-Taybi-like facial features, craniosynostosis, and autoimmune disorders, all manifesting within the realm of BCL11B-RD. We refine the intricacies of T cell compartment alterations of BCL11B-RD, revealing decreased levels naive CD4 T cells and recent thymic emigrants while concurrently observing an elevated proportion of effector-memory expressing CD45RA CD8 T cells (TEMRA). Finally, a distinct DNA methylation episignature exclusive to BCL11B-RD is unveiled. This study serves to enrich our comprehension of the clinico-biological landscape of BCL11B-RD, potentially furnishing a more precise framework for diagnosis and follow-up of individuals carrying pathogenic BCL11B variant. Moreover, the identification of a unique DNA methylation episignature offers a valuable diagnosis tool for BCL11B-RD, thereby facilitating routine clinical practice by empowering physicians to reevaluate variants of uncertain significance within the BCL11B gene.
dc.language.isoENen_US
dc.subject.enBCL11B
dc.subject.enEpigenetic signature
dc.subject.enNeurodevelopmental delay
dc.subject.enT cells
dc.title.enClinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
dc.title.alternativeGenet Meden_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.gim.2023.101007en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed37860968en_US
bordeaux.journalGenetics in Medicineen_US
bordeaux.page101007en_US
bordeaux.volume26en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Genetics%20in%20Medicine&rft.date=2024-01-01&rft.volume=26&rft.issue=1&rft.spage=101007&rft.epage=101007&rft.eissn=1530-0366&rft.issn=1530-0366&rft.au=SABBAGH,%20Quentin&HAGHSHENAS,%20Sadegheh&PIARD,%20Juliette&TROUV%C3%89,%20Chlo%C3%A9&AMIEL,%20Jeanne&rft.genre=article


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