The spectrum of phenotypes in females with Rett Syndrome

  title={The spectrum of phenotypes in females with Rett Syndrome},
  author={P. Huppke and M. Held and F. Laccone and F. Hanefeld},
  journal={Brain and Development},
  • P. Huppke, M. Held, +1 author F. Hanefeld
  • Published 2003
  • Biology, Medicine
  • Brain and Development
  • Since the discovery of mutations in the methyl-CpG binding protein-2 (MECP2) gene in Rett Syndrome (RTT) a large number of females have been diagnosed worldwide. In this article we present the clinical and developmental data of 120 RTT females with mutations in the MECP2 gene and individually describe typical and atypical cases. We found a broad spectrum of phenotypes in females. At the severest end we have females with primary developmental delay who never learned to turn, sit or walk and who… CONTINUE READING
    69 Citations

    Figures and Topics from this paper

    Paper Mentions

    Observational Clinical Trial
    The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2… Expand
    ConditionsCDKL5 Disorder, FOXG1 Syndrome, MECP2 Duplication dIsorder, (+1 more)
    Observational Clinical Trial
    The overarching purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including… Expand
    ConditionsCDKL5, FOXG1 Disorders, MECP2 Duplication, (+1 more)
    Pathogenesis of Rett syndrome and study of the role of meCP2 protein in neuronal function.
    • PDF
    Very mild cases of Rett syndrome with skewed X inactivation
    • 48
    • PDF
    Molecular Diagnosis of Rett Syndrome
    • 19
    Genotype-phenotype relationship among Egyptian children with Rett syndrome.
    • 2
    Genotype and early development in Rett syndrome: The value of international data
    • 35
    • Highly Influenced
    • PDF
    Brief Report: MECP2 Mutations in People Without Rett Syndrome
    • 32
    The overlapping spectrum of rett and angelman syndromes: a clinical review.
    • K. Jedele
    • Psychology, Medicine
    • Seminars in pediatric neurology
    • 2007
    • 48
    • PDF
    Rett Syndrome: From the Gene to the Disease
    • 75


    Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.
    • 85
    • PDF
    Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
    • 239
    • PDF
    Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
    • 79
    • PDF
    MECP2 mutations account for most cases of typical forms of Rett syndrome.
    • 263
    • PDF
    Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
    • 86
    A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • 1,397
    • PDF
    Clinical features of the early stage of the Rett syndrome
    • 59
    Rett syndrome: clinical peculiarities and biological mysteries
    • 139