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MECP2 mutation in one of Rett’s original patients
  1. M Freilinger1,
  2. A Berndt2,
  3. O A Haas3
  1. 1
    Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics and Neonatology, Medical University Vienna, Austria
  2. 2
    Labdia GmbH, Vienna, Austria
  3. 3
    medgen.at GmbH and St Anna Children’s Hospital, Vienna, Austria
  1. Correspondence to Dr O A Haas, St Anna Children’s Hospital, Kinderpitalgasse 6, Vienna, Austria, 1090; oskar.haas{at}stanna.at

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Since the first description of Rett syndrome in 1966, identification of the genetic basis in terms of MeCP2 in 1999, and the recent identification of mutations in exon 1 and of large deletions of MeCP2, more than 95% of individuals fulfilling consensus criteria for Rett syndrome will have an identifiable pathogenic mutation. In this report we identify a deletion in exon 4 in one of the original cases of Rett syndrome reported by Rett in 1966.

Based on clinical and neurological symptoms shared by 22 girls whose cardinal features were brain atrophy and hyperammonaemia, the Austrian pediatrician Andreas Rett described a new syndrome. …

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