A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Gevork N. Mnatzakanian, Hannes Lohi, Iulia Munteanu, Simon E. Alfred, Takahiro Yamada, Patrick J.M. MacLeod, Julie R. Jones, Stephen W. Scherer, N. Carolyn Schanen, Michael J. Friez, John B. Vincent, Berge A. Minassian

Research output: Contribution to journalArticle

239 Scopus citations

Abstract

Rett syndrome is caused by mutations in the gene MECP2 in ∼80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.

Original languageEnglish (US)
Pages (from-to)339-341
Number of pages3
JournalNature genetics
Volume36
Issue number4
DOIs
StatePublished - Apr 1 2004

ASJC Scopus subject areas

  • Genetics

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    Mnatzakanian, G. N., Lohi, H., Munteanu, I., Alfred, S. E., Yamada, T., MacLeod, P. J. M., Jones, J. R., Scherer, S. W., Schanen, N. C., Friez, M. J., Vincent, J. B., & Minassian, B. A. (2004). A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nature genetics, 36(4), 339-341. https://doi.org/10.1038/ng1327