RT Journal Article SR Electronic T1 MECP2 mutation in non-fatal, non-progressive encephalopathy in a male JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 171 OP 174 DO 10.1136/jmg.38.3.171 VO 38 IS 3 A1 Belaïd Imessaoudene A1 Jean-Paul Bonnefont A1 Ghislaine Royer A1 Valérie Cormier-Daire A1 Stanislas Lyonnet A1 Gilles Lyon A1 Arnold Munnich A1 Jeanne Amiel YR 2001 UL http://jmg.bmj.com/content/38/3/171.abstract AB 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.