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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Salima El Chehadeh 1 Laurence Faivre 2 Anne-Laure Mosca-Boidron 3 Valérie Malan 4 Jeanne Amiel 4 Mathilde Nizon 5 Renaud Touraine 6 Fabienne Prieur 7 Laurent Pasquier 8, 9 Patrick Callier 3 Mathilde Lefebvre 1 Nathalie Marle 3 Christèle Dubourg 8, 10 Sophie Julia 11 Catherine Sarret 12 Christine Francannet 13 Fanny Laffargue 14 Odile Boespflug-Tanguy 15, 16 Albert David 17 Bertrand Isidor 18 Cédric Le Caignec 18 Jacqueline Vigneron 17 Bruno Leheup 19, 17 Laetitia Lambert 17 Christophe Philippe 17 Jean-Marie Cuisset 20 Joris Andrieux 21 Ghislaine Plessis 22 Annick Toutain 23 Alice Goldenberg 24 Valérie Cormier-Daire 25 Marlène Rio 26 Jean-Paul Bonnefont 5 Julien Thevenon 2, 1 Bernard Echenne 27 Hubert Journel 28 Alexandra Afenjar 29, 30 Lydie Burglen 31, 32 Thierry Bienvenu 33 Marie-Claude Addor 34 Sébastien Lebon 35 Danièle Martinet Clarisse Baumann 36 Laurence Perrin 37 Séverine Drunat 37 Pierre-Simon Jouk 38, 39 Françoise Devillard 40, 41 Charles Coutton 42, 41 Didier Lacombe 43 Marie-Ange Delrue 44 Nicole Philip 45, 46 Anne Moncla 47, 48 Catherine Badens 45, 46, 49 Nathalie Perreton 50 Alice Masurel 51 Christel Thauvin-Robinet 2, 1 Vincent Des Portes Laurent Guibaud 52
39 TIMC-DyCTiM [2016-2019] - Dynamique Cellulaire et Tissulaire- Interdisciplinarité, Modèles & Microscopies [2016-2019]
TIMC - Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525
Abstract : Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such as corpus callosum abnormalities (n = 20), reduced volume of the white matter (WM) (n = 12), ventricular dilatation (n = 9), abnormal increased hyperintensities on T2-weighted images involving posterior periventricular WM (n = 6), and vermis hypoplasia (n = 5). The occipitofrontal circumference varied considerably between \textgreater+2SD in five patients and \textless-2SD in four patients. Among the nine patients with dilatation of the lateral ventricles, six had a duplication involving L1CAM. The only patient harboring bilateral posterior subependymal nodular heterotopia also carried an FLNA gene duplication. We could not demonstrate a correlation between periventricular WM hyperintensities/delayed myelination and duplication of the IKBKG gene. We thus conclude that patients with an Xq28 duplication involving MECP2 share some similar but non-specific brain abnormalities. These imaging features, therefore, could not constitute a diagnostic clue. The genotype-phenotype correlation failed to demonstrate a relationship between the presence of nodular heterotopia, ventricular dilatation, WM abnormalities, and the presence of FLNA, L1CAM, or IKBKG, respectively, in the duplicated segment. © 2015 Wiley Periodicals, Inc
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Submitted on : Wednesday, December 2, 2015 - 4:37:54 PM
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Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, Valérie Malan, Jeanne Amiel, et al.. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. American Journal of Medical Genetics Part A, Wiley, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩. ⟨hal-01237099⟩

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