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MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
  1. Belaïd Imessaoudene*,
  2. Jean-Paul Bonnefont,
  3. Ghislaine Royer,
  4. Valérie Cormier-Daire,
  5. Stanislas Lyonnet,
  6. Gilles Lyon,
  7. Arnold Munnich,
  8. Jeanne Amiel
  1. Département de Génétique and INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France
  1. Dr Amiel, amiel{at}necker.fr

Abstract

To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3Alocus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows thatMECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females.

  • MECP2 gene
  • Rett syndrome
  • Angelman syndrome
  • encephalopathy
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Footnotes

  • * Present address: Laboratoire de Biochimie, Service du Pr Berhoune, CHU Alger Centre et Hôpital Mustapha, Alger, Algeria

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