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Article

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.

European journal of human genetics : EJHG - 1 Jan 2005

Evans Julie C, Archer Hayley L, Whatley Sharon D, Kerr Alison, Clarke Angus, Butler Rachel

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Promoter Regions, Genetic

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Source

Identifiers

PMID: 15367913
DOI: 10.1038/sj.ejhg.5201270

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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