Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet Laurence Faivre 1, 2 Jeanne Amiel 3 Mathilde Nizon 3 Renaud Touraine 4 Fabienne Prieur 4 Laurent Pasquier 5 Mathilde Lefebvre 1, 2 Julien Thevenon 1, 2 Christèle Dubourg 6 Sophie Julia 7 Catherine Sarret 8 Ganaëlle Remerand Christine Francannet 9 Fanny Laffargue 9 Odile Boespflug-Tanguy 10 Albert David 11 Bertrand Isidor 11 Jacqueline Vigneron 12 Bruno Leheup 12 Laetitia Lambert 12 Christophe Philippe 13 Mylène Beri-Dexheimer 13 Jean-Marie Cuisset 14 Joris Andrieux 15 Ghislaine Plessis 16 Annick Toutain 17 Laurent Guibaud 18 Valérie Cormier-Daire 19 Marlène Rio 19 Jean-Paul Bonnefont Bernard Echenne 20 Hubert Journel 21 Lydie Burglen 22 Sandrine Chantot-Bastaraud 22 Thierry Bienvenu 23 Clarisse Baumann 24 Laurence Perrin 24 Séverine Drunat Pierre-Simon Jouk 25 Klaus Dieterich 25 Françoise Devillard 25 Didier Lacombe 26, 27 Nicole Philip 28 Sabine Sigaudy 28 Anne Moncla 29 Chantal Missirian 29 Catherine Badens 30 Nathalie Perreton 31 Christel Thauvin-Robinet 1, 2 Réseau Achro-Puce Jean-Michel Pedespan 32 Caroline Rooryck 26, 27 Cyril Goizet 26, 27 Catherine Vincent-Delorme 33 Bénédicte Duban-Bedu 34 Nadia Bahi-Buisson 35 Alexandra Afenjar 36 Kim Maincent 36 Delphine Héron 37 Jean-Luc Alessandri 38 Dominique Martin-Coignard 39 Gaetan Lesca 40, 41 Massimiliano Rossi 40, 41 Martine Raynaud 42 Patrick Callier 43 Anne-Laure Mosca-Boidron 43 Nathalie Marle 43 Charles Coutton Véronique Satre Cédric Le Caignec 44 Valérie Malan 3 Serge Romana 3 Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville 45 Marianne Till 45 Maryline Carneiro 46 Brigitte Gilbert-Dussardier 47 Marjolaine Willems 48 Hilde van Esch 49 Vincent Des Portes 50, 51 Salima El Chehadeh 52
25 TIMC-IMAG-DyCTiM - Dynamique Cellulaire et Tissulaire- Interdisciplinarité, Modèles & Microscopies
TIMC-IMAG - Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525
52 Equipe GAD (LNC - U1231)
LNC - Lipides - Nutrition - Cancer [Dijon - U1231]
Abstract : The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life.
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Soumis le : lundi 11 mars 2019 - 16:31:54
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Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, et al.. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩. ⟨hal-02064139⟩



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