J Med Genet 2001;38:171-174 ( March )

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

Belaïd Imessaoudene^*, Jean-Paul Bonnefont, Ghislaine Royer, Valérie Cormier-Daire, Stanislas Lyonnet, Gilles Lyon, Arnold Munnich, Jeanne Amiel

Département de Génétique and INSERM U-393, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France

Correspondence to: Dr Amiel, amiel{at}necker.fr

Revised version received 22 December 2000; Accepted for publication 3 January 2001

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 UBE3A locus. 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 that MECP2 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.


Keywords: MECP2 gene; Rett syndrome; Angelman syndrome; encephalopathy

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

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© 2001 by J Med Genet
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