MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur ,Hubert Journel ,Cécile Boucher ,Thierry Frébourg ,Véronique David ,Magalie Barth ,Sylvie Jaillard ,Stéphane Auvin ,Agnés Guichet ,Patrizia Amati‐Bonneau ,Sylvie Joriot ,Aude Charollais ,Alice Goldenberg ,Christèle Dubourg ,Pascale Saugier-Veber ,Muriel Holder‐Espinasse ,Joris Andrieux ,Sylvie Manouvrier‐Hanu ,Jean‐Pierre Kerckaert ,Dominique Bonneau

doi:10.1136/jmg.2009.069732

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur , Hubert Journel + Show 18 more

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https://doi.org/10.1136/jmg.2009.069732

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Journal: Journal of Medical Genetics	Publication Date: Jul 9, 2009
Citations: 210

Affiliation: Centre hospitalier Bretagne Atlantique, Centre Hospitalier Universitaire de Rouen, University of Rouen, Inserm, Laboratoire de Génétique Cellulaire, University of Rennes, French National Centre for Scientific Research, Hôpital Robert-Debré, Assistance Publique – Hôpitaux de Paris, University of Angers, Hôpital Roger Salengro, Centre Hospitalier Universitaire de Lille, Hôpital Jeanne de Flandre, Institut de Génomique Fonctionnelle, University of Lille

#Stereotypic Movements #Cerebral Malformations + Show 8 more

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BackgroundOver the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation.MethodMolecular karyotyping of six patients with...

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