Affiliations: Institute of Pediatrics and Children Surgery, Russian
Ministry of Health, Moscow, Russia | National Center of Mental Health, Russian Academy of
Medical Sciences, Moscow, Russia
Note: [] Correspondence: Yuri B. Yurov, PhD, M.D., Professor, National
Center of Mental Health, Russian Academy of Medical Sciences Zagorodnoe sh.2,
119121, Moscow, Russia. Tel: 7 095 952 89 90, fax: 7 095 952 89 40. E-mail:
y_yurov@hotmail.com, y_yurov@yahoo.com
Abstract: 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).
Keywords: Rett syndrome, MECP2 mutations, X chromosome inactivation, genotype-phenotype correlations
