title: Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
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.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK. evansjc6@cardiff.ac.uk
authors.forename: Julie C
authors.initials: JC
authors.lastname: Evans
authors.forename: Hayley L
authors.initials: HL
authors.lastname: Archer
authors.forename: Sharon D
authors.initials: SD
authors.lastname: Whatley
authors.forename: Alison
authors.initials: A
authors.lastname: Kerr
authors.forename: Angus
authors.initials: A
authors.lastname: Clarke
authors.forename: Rachel
authors.initials: R
authors.lastname: Butler
mesh_terms: D016022:Case-Control Studies; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins