The incidence of Rett syndrome in France.
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.
Bienvenu
Thierry
T
University Paris 5, Cochin Institute, INSERM U567, Centre National de la Recherche Scientifique/Unitré Mixte de Reserche 8104, Paris, France. bienvenu@cochin.inserm.fr
Philippe
Christophe
C
De Roux
Nicolas
N
Raynaud
Martine
M
Bonnefond
Jean Paul
JP
Pasquier
Laurent
L
Lesca
Gaetan
G
Mancini
Josette
J
Jonveaux
Philippe
P
Moncla
Anne
A
Feingold
Josué
J
Chelly
Jamel
J
Villard
Laurent
L
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*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2