Objective To study the clinical features and mutations in methyl-CpG-binding protein 2(MECP2) gene among children with classical Rett syndrome in China. Methods PCR and direct sequencing were employed to analyze the three exons of MECP2 gene in 9 children recently diagnosed with Rett syndrome and their parents. Results Heterozygous mutations were identified in 5 out of 9 patients, with a mutation rate of over 50%; there was one case of insert mutation(c.913insT) and 4 cases of missense mutation(exon 3: c.31...
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