Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients
Vorsanova, S.G.; Ulas, V.I.; Iurov, I.B.; Giovanucci-Uzielli, M.L.; Demidova, I.A.; Gianti, L.; Villard, L.; Iurov, I.I.; Beresheva, A.K.; Novikov, P.V.
Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova 102(10): 23-29
2002
ISSN/ISBN: 1997-7298 PMID: 12449561 Document Number: 546488
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 frequent mutations were R255X (5 cases) and T158M (4 cases). A boy with classical clinical picture of RTT had R270X mutation. Skewed inactivation of chromosome x has been found in 2 of 27 RTT girls with classical RTT form and "forme fruste". The data obtained imply possible correlations between genotype and phenotype in RTT.