title: [Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients].
abstract: 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.
authors.forename: S G
authors.initials: SG
authors.lastname: Vorsanova
authors.forename: V Iu
authors.initials: VIu
authors.lastname: Ulas
authors.forename: Iu B
authors.initials: IuB
authors.lastname: Iurov
authors.forename: M L
authors.initials: ML
authors.lastname: Giovanucci-Uzielli
authors.forename: I A
authors.initials: IA
authors.lastname: Demidova
authors.forename: L
authors.initials: L
authors.lastname: Gianti
authors.forename: L
authors.initials: L
authors.lastname: Villard
authors.forename: I Iu
authors.initials: IIu
authors.lastname: Iurov
authors.forename: A K
authors.initials: AK
authors.lastname: Beresheva
authors.forename: P V
authors.initials: PV
authors.lastname: Novikov
mesh_terms: D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D041321:Chromosomes, Human, X; D018389:Codon, Nonsense / Q000235:genetics; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins