학술논문
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Document Type
Article
Author
Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouvé, Chloé; Amiel, Jeanne; Attié-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; McConkey, Haley; Michaud, Vincent; Nicolas, Gaël; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlène; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylène; Mau-Them, Frédéric Tran; van der Laan, Liselot; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kévin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Geneviève, David
Source
Genetics in Medicine; 20230101, Issue: Preprints
Subject
Language
ISSN
10983600; 15300366
Abstract
BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11Bgene, 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.