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  • Title: Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
    Author: Evans JC, Archer HL, Whatley SD, Kerr A, Clarke A, Butler R.
    Journal: Eur J Hum Genet; 2005 Jan; 13(1):124-6. PubMed ID: 15367913.
    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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