Article
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Journal of medical genetics - 29 Aug 2024
Thomas Hortense, Alix Tom, Renard Émeline, Renaud Mathilde, Wourms Justine, Zuily Stéphane, Leheup Bruno, Geneviève David, Dreumont Natacha, Schmitt Emmanuelle, Bronner Myriam, Muller Marc, Divoux Marion, Wandzel Marion, Ravel Jean-Marie, Dexheimer Mylène, Becker Aurélie, Roth Virginie, Willems Marjolaine, Coubes Christine, Vieville Gaëlle, Devillard Françoise, Schaefer Élise, Baer Sarah, Piton Amélie, Gérard Bénédicte, Vincent Marie, Nizon Mathilde, Cogné Benjamin, Ruaud Lyse, Couque Nathalie, Putoux Audrey, Edery Patrick, Lesca Gaëtan, Chatron Nicolas, Till Marianne, Faivre Laurence, Tran-Mau-Them Frédéric, Alessandri Jean-Luc, Lebrun Marine, Quélin Chloé, Odent Sylvie, Dubourg Christèle, David Véronique, Faoucher Marie, Mignot Cyril, Keren Boris, Pisan Élise, Afenjar Alexandra, Julia Sophie, Bieth Éric, Banneau Guillaume, Goldenberg Alice, Husson Thomas, Campion Dominique, Lecoquierre François, Nicolas Gaël, Charbonnier Camille, De Saint Martin Anne, Naudion Sophie, Degoutin Manon, Rondeau Sophie, Michot Caroline, Cormier-Daire Valérie, Oussalah Abderrahim, Pourié Carine, Lambert Laëtitia, Bonnet Céline
Abstract excerpt
BACKGROUND: Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha (DNMT3A)-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intellectual disability and distinctive facial features and is the consequence of germline loss-of-function variants in DNMT3A, which encodes a DNA methyltransferase involved in...
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