Comparative Study
doi: 10.1038/sj.ejhg.5201270.
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls
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- PMID: 15367913
- DOI: 10.1038/sj.ejhg.5201270
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Comparative Study
Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls
Eur J Hum Genet.
2005 Jan.
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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