@article {Imessaoudene171, author = {Bela{\"\i}d Imessaoudene and Jean-Paul Bonnefont and Ghislaine Royer and Val{\'e}rie Cormier-Daire and Stanislas Lyonnet and Gilles Lyon and Arnold Munnich and Jeanne Amiel}, title = { MECP2 mutation in non-fatal, non-progressive encephalopathy in a male}, volume = {38}, number = {3}, pages = {171--174}, year = {2001}, doi = {10.1136/jmg.38.3.171}, publisher = {BMJ Publishing Group Ltd}, 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.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/38/3/171}, eprint = {https://jmg.bmj.com/content/38/3/171.full.pdf}, journal = {Journal of Medical Genetics} }