[Developmental disorder in girls due to Rett syndrome].
Three girls with Rett syndrome are presented. Patients A and B had initially exhibited normal development, patient C showed severe developmental delay from birth on. In all three stereotypical hand movements arose which led to Rett syndrome being suspected. For patients A and B the clinical diagnosis was further supported by the identification of mutations in the MECP2-gene. In patient C, the mutation found turned out to be a neutral variant. Rett syndrome is a X-linked developmental disorder, which is particularly prevalent in girls. In 70-90% of clinically diagnosed RS patients a mutation is detected. MECP2-mutations result in a far wider range of phenotypes than classic RS. Mutations of this gene also occur in boys, with or without Rett-syndrome type phenotypes.
Pruissen
D M
DM
Divisie Hersenen, subafd. Kinderneurologie, Universitair Medisch Centrum Utrecht, Wilhelmina Kinderziekenhuis, Postbus 85.090, 3508 AB Utrecht.
Sinke
R J
RJ
Terhal
P A
PA
Beemer
F A
FA
Peters
A C
AC
D002648:Child; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D010641:Phenotype; 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