| Literature DB >> 29618507 |
Marguerite Miguet1, Laurence Faivre2, Jeanne Amiel3, Mathilde Nizon3, Renaud Touraine4, Fabienne Prieur4, Laurent Pasquier5, Mathilde Lefebvre2, Julien Thevenon2, Christèle Dubourg6, Sophie Julia7, Catherine Sarret8, Ganaëlle Remerand8, Christine Francannet9, Fanny Laffargue9, Odile Boespflug-Tanguy10, Albert David11, Bertrand Isidor11, Jacqueline Vigneron12, Bruno Leheup12, Laetitia Lambert12, Christophe Philippe13, Mylène Béri-Dexheimer13, Jean-Marie Cuisset14, Joris Andrieux15, Ghislaine Plessis16, Annick Toutain17, Laurent Guibaud18, Valérie Cormier-Daire3, Marlene Rio3, Jean-Paul Bonnefont19, Bernard Echenne20, Hubert Journel21, Lydie Burglen22, Sandrine Chantot-Bastaraud22, Thierry Bienvenu23, Clarisse Baumann24, Laurence Perrin24, Séverine Drunat25, Pierre-Simon Jouk26, Klaus Dieterich26, Françoise Devillard26, Didier Lacombe27, Nicole Philip28, Sabine Sigaudy28, Anne Moncla29, Chantal Missirian29, Catherine Badens30, Nathalie Perreton31, Christel Thauvin-Robinet2, Réseau AChro-Puce32, Jean-Michel Pedespan33, Caroline Rooryck27, Cyril Goizet27, Catherine Vincent-Delorme34, Bénédicte Duban-Bedu35, Nadia Bahi-Buisson36, Alexandra Afenjar37, Kim Maincent37, Delphine Héron38, Jean-Luc Alessandri39, Dominique Martin-Coignard40, Gaëtan Lesca41,42, Massimiliano Rossi41,42, Martine Raynaud43, Patrick Callier44, Anne-Laure Mosca-Boidron44, Nathalie Marle44, Charles Coutton45, Véronique Satre45, Cédric Le Caignec46,47, Valérie Malan48, Serge Romana48, Boris Keren49, Anne-Claude Tabet50, Valérie Kremer51, Sophie Scheidecker51, Adeline Vigouroux52, Marilyn Lackmy-Port-Lis53, Damien Sanlaville54, Marianne Till54, Maryline Carneiro55, Brigitte Gilbert-Dussardier56, Marjolaine Willems57, Hilde Van Esch58, Vincent Des Portes59,60, Salima El Chehadeh1,2.
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. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.Entities:
Keywords: zzm321990MECP2duplication syndrome; zzm321990MECP2gene; X-linked; Xq28 duplication; facial dysmorphism; genetic counselling
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Year: 2018 PMID： 29618507 DOI： 10.1136/jmedgenet-2017-104956
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318