X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
Rett syndrome (RTT) is an X-linked dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-CpG-binding protein 2 (MECP2). The correlations between genotype, X chromosome inactivation (XCI), and phenotype have been studied, but the results are conflicting. In the present study, XCI patterns in patients and their mothers, parental origin of skewed X chromosome in patients, and the correlations between XCI, genotype, and phenotype were analyzed in 52 cases of RTT with MECP2 mutations, 50 RTT mothers, and 48 normal female controls. The results showed XCI and genotype had limitations in explaining all the phenotypic manifestations of RTT. Other genomic factors have to be considered to explain the phenotypic differences.
Xinhua Bao
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Shengling Jiang
Fuying Song
Hong Pan
Meirong Li
Wu
Xi-Ru
XR
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics*; D049951:X Chromosome Inactivation / Q000235:genetics*
D005819:Genetic Markers; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2