Abstract
Rett syndrome (RTT) is a progressive neurodevelopmental disorder that affects almost exclusively girls. Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause. In order to study the spectrum of MECP2 mutations in Chinese patients, we employed PCR and sequencing of the coding region of MECP2 gene in 31 Chinese cases of classical sporadic RTT. Mutations in MECP2 were found in about 55%. Twelve different mutations in exon 3 were identified in 17 of these 31 patients; two of these are novel. A novel missense variant was detected in the C-terminal region in a patient and her father who was normal. In addition, there was a single nucleotide variant in the 3′UTR.
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References
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY . Rett syndrome is caused by mutations in X-linked MECP2, encoding methly-CpG-binding protein 2 Nat Genet 1999 23: 185–188
Nan X, Ng HH, Johnson CA et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex Nature 1999 393: 386–389
The Rett Syndrome Diagnostic Criteria Work Group. Diagnostic criteria for Rett syndrome Ann Neurol 1988 23: 425–428
Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P . A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients Hum Genet 2001 108: 43–50
Cheadle JP, Gill H, Fleming N et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location Hum Mol Genet 2000 9: 1119–1129
Couvert P, Bienvenu T, Aquaviva C et al. MECP2 is highly mutated in X-linked mental retardation Hum Mol Genet 2001 10: 941–946
Acknowledgements
We thank Professor Wilson HY Lo for his helpful suggestion and revision of the manuscript. This work was supported by the National Natural Science Foundation of China (Grant 39670459, 39625007 and 39993420), the China National Key Program in Basic Research (G 1998051003), the China National High-Tech R&D Program (863-102-10-03-05), and the Foundation of Peking University Center for Human Genetic Disease.
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Pan, H., Wang, YP., Bao, XH. et al. MECP2 gene mutation analysis in Chinese patients with Rett syndrome. Eur J Hum Genet 10, 484–486 (2002). https://doi.org/10.1038/sj.ejhg.5200827
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DOI: https://doi.org/10.1038/sj.ejhg.5200827
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