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Journal of Child Neurology
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X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype

Xinhua Bao, MD

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China

Shengling Jiang, MD

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China

Fuying Song, MD

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China

Hong Pan, MA

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China

Meirong Li, MD

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China

Xi-Ru Wu, MD

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China, icnc{at}public3.bta.net.cn

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.

Key Words: MECP2 • mutations • Rett syndrome • X chromosome inactivation

Journal of Child Neurology, Vol. 23, No. 1, 22-25 (2008)
DOI: 10.1177/0883073807307077
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