title: [Developmental disorder in girls due to Rett syndrome].
abstract: 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.
authors.affiliation: Divisie Hersenen, subafd. Kinderneurologie, Universitair Medisch Centrum Utrecht, Wilhelmina Kinderziekenhuis, Postbus 85.090, 3508 AB Utrecht.
authors.forename: D M
authors.initials: DM
authors.lastname: Pruissen
authors.forename: R J
authors.initials: RJ
authors.lastname: Sinke
authors.forename: P A
authors.initials: PA
authors.lastname: Terhal
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: A C
authors.initials: AC
authors.lastname: Peters
mesh_terms: 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*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins