Developmental disorder in girls due to Rett syndrome

D M Pruissen, R J Sinke, P A Terhal, F A Beemer, A C Peters

    Research output: Contribution to journalArticleAcademicpeer-review

    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.

    Translated title of the contributionDevelopmental disorder in girls due to Rett syndrome
    Original languageDutch
    Pages (from-to)1560-1563
    Number of pages4
    JournalNederlands Tijdschrift voor de Geneeskunde
    Volume147
    Issue number32
    Publication statusPublished - 9-Aug-2003

    Keywords

    • Child
    • Chromosomal Proteins, Non-Histone
    • DNA-Binding Proteins
    • Developmental Disabilities
    • Female
    • Genotype
    • Humans
    • Methyl-CpG-Binding Protein 2
    • Mutation
    • Phenotype
    • Repressor Proteins
    • Rett Syndrome

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