Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Tania Attié-Bitach, Tugce Balci, Mouna Barat-Houari, Alyce Belonis, Odile Boute, Diana S Brightman, Ange-Line Bruel, Stefano Giuseppe Caraffi, Nicolas Chatron, Corinne Collet, William Dufour, Patrick Edery, Chin-To Fong, Carlo Fusco, Vincent Gatinois, Evan Gouy, Anne-Marie Guerrot, Solveig Heide, Aakash Joshi, Natalya Karp, Boris Keren, Marion Lesieur-Sebellin, Jonathan Levy, Michael A Levy, Claire Lozano, Stanislas Lyonnet, Henri Margot, Pauline Marzin, Haley McConkey, Vincent Michaud, Gaël Nicolas, Mevyn Nizard, Alix Paulet, Francesca Peluso, Vincent Pernin, Laurence Perrin, Christophe Philippe, Chitra Prasad, Madhavi Prasad, Raissa Relator, Marlène Rio, Sophie Rondeau, Valentin Ruault, Nathalie Ruiz-Pallares, Elodie Sanchez, Debbie Shears, Victoria Mok Siu, Arthur Sorlin, Matthew Tedder, Mylène Tharreau, Frédéric Tran Mau-Them, Liselot van der Laan, Julien Van Gils, Alain Verloes, Sandra Whalen, Marjolaine Willems, Kévin Yauy, Roberta Zuntini, Jennifer Kerkhof, Bekim Sadikovic, David Geneviève
PURPOSE: BCL11B-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...
October 17, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics