Article
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Mar 2012
Gianakopoulos Peter J, Zhang Yuzhi, Pencea Nela, Orlic-Milacic Marija, Mittal Kirti, Windpassinger Christian, White Sara-Jane, Kroisel Peter M, Chow Eva W C, Saunders Carol J, Minassian Berge A, Vincent John B
Abstract excerpt
The overwhelming majority of Rett syndrome cases are caused by mutations in the gene MECP2. MECP2 has two isoforms, termed MECP2_e1 and MECP2_e2, which differ in their N-terminal amino acid sequences. A growing body of evidence has indicated that MECP2_e1 may be the etiologically relevant isoform in Rett Syndrome based on its expression profile in the brain and because, strikingly, no mutations have been...
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