Spectrum of MECP2 mutations in Rett syndrome.
Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. We have collected the results of MECP2 analysis conducted in four laboratories in France. A total of 301 RTT alleles have been analyzed, demonstrating a total of 69 different mutations so far observed and accounting for 64% of MECP2 genes in RTT patients living in France. R168X (11.5%) is the most common of MECP2 mutations, followed by R255X (10.9%), R270X (10.5%), T158M (7.8%), and R306C (6.8%). Only 10 mutations had a relative frequency > 2%. A total of 59 mutations were found in a small number of RTT alleles (from 1 to 2). These data demonstrate the high allelic heterogeneity of RTT in France and provide information relevant to the development of strategies for molecular diagnosis and genetic counseling in RTT families.
Bienvenu
Thierry
T
INSERM U129-ICGM, Faculté de Médecine Cochin, 75014 Paris, France. bienvenu@cochin.inserm.fr
Villard
Laurent
L
De Roux
Nicolas
N
Bourdon
Violaine
V
Fontes
Michel
M
Beldjord
Cherif
C
Tardieu
Marc
M
Jonveaux
Philippe
P
Chelly
Jamel
J
D002868:Chromosomal Proteins, Non-Histone; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005602:France; D005787:Gene Frequency; D018740:Genetic Heterogeneity; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins