Rett syndrome (RTT) is a progressive neurodevelopmental disorder that affects 
almost exclusively girls. Mutations in the X-linked methyl-CpG-binding protein 2 
gene (MECP2) have been found to be a cause. In order to study the spectrum of 
MECP2 mutations in Chinese patients, we employed PCR and sequencing of the 
coding region of MECP2 gene in 31 Chinese cases of classical sporadic RTT. 
Mutations in MECP2 were found in about 55%. Twelve different mutations in exon 3 
were identified in 17 of these 31 patients; two of these are novel. A novel 
missense variant was detected in the C-terminal region in a patient and her 
father who was normal. In addition, there was a single nucleotide variant in the 
3'UTR.