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      • Department of Molecular Biology and Genetics
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      Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

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      Author(s)
      Topçu, M.
      Akyerli, C.
      Sayi, A.
      Törüner, G. A.
      Koçoǧlu, S. R.
      Cimbiş, M.
      Özçelik, T.
      Date
      2002
      Source Title
      European Journal of Human Genetics
      Print ISSN
      1018-4813
      Publisher
      Nature Publishing
      Volume
      10
      Issue
      1
      Pages
      77 - 81
      Language
      English
      Type
      Article
      Item Usage Stats
      98
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      41
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      Abstract
      Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.
      Keywords
      MECP2
      Rett syndrome
      Somatic mosaicism
      Binding protein
      Methyl CpG binding protein 2
      Unclassified drug
      Article
      Case report
      Chromosome analysis
      Chromosome mosaicism
      Clinical feature
      Controlled study
      Developmental disorder
      Disease association
      Disease severity
      Female
      Gene mutation
      Hemizygosity
      Human
      Karyotype
      Male
      Neurologic disease
      Phenotype
      Priority journal
      Rett syndrome
      School child
      X chromosome linkage
      Child
      Child, preschool
      Chromosomal proteins, non-histone
      Codon, nonsense
      DNA-binding proteins
      Humans
      Infant
      Infant, newborn
      Male
      Methyl-CpG-binding protein 2
      Mosaicism
      Repressor proteins
      Rett syndrome
      Permalink
      http://hdl.handle.net/11693/24727
      Published Version (Please cite this version)
      http://dx.doi.org/10.1038/sj/ejhg/5200745
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      • Department of Molecular Biology and Genetics 468
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