Details

Autor(en) / Beteiligte

• EVANS, Julie C
• ARCHER, Hayley L
• WHATLEY, Sharon D
• KERR, Alison
• CLARKE, Angus
• BUTLER, Rachel

Titel

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

Ist Teil von

• European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.124-126

Ort / Verlag

Avenel, NJ: Nature Publishing

Erscheinungsjahr

2005

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.