Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Despite the fact that this disease has been studied for more than 20 years the problem of genetic and epigenetic factor involvement in the pathogenesis of RTT is not completely solved. In the present review we describe the contemporary knowledge of neurological, genetic and epigenetic features of RTT. We propose that subsequent studies of RTT should be targeted to reveal genotype-phenotype correlations taking into account the pathogenic effect of MECP2 mutations as well as X chromosome inactivation. We also suggest that additional investigations of epigenetic phenomena in cells with MECP2 mutations are needed in order to describe the complex interaction of genetic and epigenetic processes that leads to the myriad clinical manifestations of RTT. (J Pediatr Neurol 2004; 2(4): 179-190).
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