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Journal of Pediatric Neurology 2004; 02(04): 179-190
DOI: 10.1055/s-0035-1557218
Review Article
Georg Thieme Verlag KG Stuttgart – New York

Neurological, genetic and epigenetic features of Rett syndrome

Svetlana G. Vorsanova
1   Institute of Pediatrics and Children Surgery, Russian Ministry of Health, Moscow, Russia
2   National Center of Mental Health, Russian Academy of Medical Sciences, Moscow, Russia
,
Ivan Y. Iourov
2   National Center of Mental Health, Russian Academy of Medical Sciences, Moscow, Russia
,
Yuri B. Yurov
1   Institute of Pediatrics and Children Surgery, Russian Ministry of Health, Moscow, Russia
2   National Center of Mental Health, Russian Academy of Medical Sciences, Moscow, Russia
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Publication History

11 June 2004

12 August 2004

Publication Date:
29 July 2015 (online)

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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