Abstract
Mutations in MECP2 are a cause of Rett syndrome. Recently, a new isoform of MeCP2 was described, which has an alternative N-terminus, transcribed from exon 1. We screened exon 1 and the promoter region of MECP2 in 97 mutation-negative Rett syndrome cases. We found two sequence variants, but there was no evidence that they are pathogenic. Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome.
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References
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We thank the patients, families and clinicians who helped in this study. This work was funded by The Health Foundation, a healthcare charity.
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Supplementary Information accompanies the paper on European Journal of Human Genetics website (http://www.nature.com/ejhg).
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Evans, J., Archer, H., Whatley, S. et al. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. Eur J Hum Genet 13, 124–126 (2005). https://doi.org/10.1038/sj.ejhg.5201270
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DOI: https://doi.org/10.1038/sj.ejhg.5201270
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