Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome.

Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6-18 months followed by a period of motor and vocal deterioration with stereotypic hand movements. Incidence of RTT is mostly due to de novo mutation in the MECP2 gene (methyl-CpG-binding protein 2).

Methods: The study assessed 27 female patients presented with classical RTT phenotype age range from 18 months to 48 months.