PT  - JOURNAL ARTICLE
AU  - Belaïd Imessaoudene
AU  - Jean-Paul Bonnefont
AU  - Ghislaine Royer
AU  - Valérie Cormier-Daire
AU  - Stanislas Lyonnet
AU  - Gilles Lyon
AU  - Arnold Munnich
AU  - Jeanne Amiel
TI  - <em>MECP2</em> mutation in non-fatal, non-progressive encephalopathy in a male
AID  - 10.1136/jmg.38.3.171
DP  - 2001 Mar 01
TA  - Journal of Medical Genetics
PG  - 171--174
VI  - 38
IP  - 3
4099  - http://jmg.bmj.com/content/38/3/171.short
4100  - http://jmg.bmj.com/content/38/3/171.full
SO  - J Med Genet2001 Mar 01; 38
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.