TY - JOUR T1 - Further delineation of the <em>MECP2</em> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features JF - Journal of Medical Genetics JO - J Med Genet DO - 10.1136/jmedgenet-2017-104956 SP - jmedgenet-2017-104956 AU - Marguerite Miguet AU - Laurence Faivre AU - Jeanne Amiel AU - Mathilde Nizon AU - Renaud Touraine AU - Fabienne Prieur AU - Laurent Pasquier AU - Mathilde Lefebvre AU - Julien Thevenon AU - Christèle Dubourg AU - Sophie Julia AU - Catherine Sarret AU - Ganaëlle Remerand AU - Christine Francannet AU - Fanny Laffargue AU - Odile Boespflug-Tanguy AU - Albert David AU - Bertrand Isidor AU - Jacqueline Vigneron AU - Bruno Leheup AU - Laetitia Lambert AU - Christophe Philippe AU - Mylène Béri-Dexheimer AU - Jean-Marie Cuisset AU - Joris Andrieux AU - Ghislaine Plessis AU - Annick Toutain AU - Laurent Guibaud AU - Valérie Cormier-Daire AU - Marlene Rio AU - Jean-Paul Bonnefont AU - Bernard Echenne AU - Hubert Journel AU - Lydie Burglen AU - Sandrine Chantot-Bastaraud AU - Thierry Bienvenu AU - Clarisse Baumann AU - Laurence Perrin AU - Séverine Drunat AU - Pierre-Simon Jouk AU - Klaus Dieterich AU - Françoise Devillard AU - Didier Lacombe AU - Nicole Philip AU - Sabine Sigaudy AU - Anne Moncla AU - Chantal Missirian AU - Catherine Badens AU - Nathalie Perreton AU - Christel Thauvin-Robinet AU - Réseau AChro-Puce AU - Jean-Michel Pedespan AU - Caroline Rooryck AU - Cyril Goizet AU - Catherine Vincent-Delorme AU - Bénédicte Duban-Bedu AU - Nadia Bahi-Buisson AU - Alexandra Afenjar AU - Kim Maincent AU - Delphine Héron AU - Jean-Luc Alessandri AU - Dominique Martin-Coignard AU - Gaëtan Lesca AU - Massimiliano Rossi AU - Martine Raynaud AU - Patrick Callier AU - Anne-Laure Mosca-Boidron AU - Nathalie Marle AU - Charles Coutton AU - Véronique Satre AU - Cédric Le Caignec AU - Valérie Malan AU - Serge Romana AU - Boris Keren AU - Anne-Claude Tabet AU - Valérie Kremer AU - Sophie Scheidecker AU - Adeline Vigouroux AU - Marilyn Lackmy-Port-Lis AU - Damien Sanlaville AU - Marianne Till AU - Maryline Carneiro AU - Brigitte Gilbert-Dussardier AU - Marjolaine Willems AU - Hilde Van Esch AU - Vincent Des Portes AU - Salima El Chehadeh Y1 - 2018/04/04 UR - http://jmg.bmj.com/content/early/2018/04/03/jmedgenet-2017-104956.abstract N2 - 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. ER -