title: The incidence of Rett syndrome in France.
abstract: Since the description of Rett syndrome, only a handful of epidemiologic studies based only on clinical investigation have been reported. Mutations in the MECP2 gene are associated with Rett syndrome and French laboratories have organized a clinical and molecular network to investigate the incidence of Rett syndrome in France including the results of molecular investigations. The present study, based on a large cohort of 424 patients with Rett syndrome, found that the incidence of this disease with a MECP2 mutation varied between 0.43 to 0.71 per 10,000 females. The total population of females aged 4-15 years in November 2004 in France was estimated to be 4,337,627. The data presented here indicate a prevalence of Rett syndrome of 0.558 per 10,000 females aged 4-15 years in France. The incidence of Rett syndrome is in accordance with other European epidemiologic studies based on clinical examination. Given that this is a minimum incidence because complete inventory was not possible, this study of patients with Rett syndrome reinforces the fact that the great majority of patients with Rett syndrome have a MECP2 mutation.
authors.affiliation: University Paris 5, Cochin Institute, INSERM U567, Centre National de la Recherche Scientifique/Unitré Mixte de Reserche 8104, Paris, France. bienvenu@cochin.inserm.fr
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
authors.forename: Christophe
authors.initials: C
authors.lastname: Philippe
authors.forename: Nicolas
authors.initials: N
authors.lastname: De Roux
authors.forename: Martine
authors.initials: M
authors.lastname: Raynaud
authors.forename: Jean Paul
authors.initials: JP
authors.lastname: Bonnefond
authors.forename: Laurent
authors.initials: L
authors.lastname: Pasquier
authors.forename: Gaetan
authors.initials: G
authors.lastname: Lesca
authors.forename: Josette
authors.initials: J
authors.lastname: Mancini
authors.forename: Philippe
authors.initials: P
authors.lastname: Jonveaux
authors.forename: Anne
authors.initials: A
authors.lastname: Moncla
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
authors.forename: Laurent
authors.initials: L
authors.lastname: Villard
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005602:France / Q000453:epidemiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008403:Mass Screening; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D015995:Prevalence; D015518:Rett Syndrome / Q000453:epidemiology* / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2