Article
[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2002
Vorsanova S G, Ulas V Iu, Iurov Iu B, Giovanucci-Uzielli M L, Demidova I A, Gianti L, Villard L, Iurov I Iu, Beresheva A K, Novikov P V
Abstract excerpt
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 gene (MECP2). We carried out a mutations analysis in Russian cohort of patients with RTT. MECP2 mutations were found in 23 of 28 RTT girls and one boy (82%). Thirteen different types of mutations have been identified: 6 nonsense, 5 missense and 2 deletions in MECP2 gene. In typical RTT form, most...
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