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. 2004 Apr;36(4):339-41.
doi: 10.1038/ng1327. Epub 2004 Mar 21.

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

Gevork N Mnatzakanian  1 , 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
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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Gevork N Mnatzakanian et al. Nat Genet. 2004 Apr.

Erratum in

  • Nat Genet. 2004 May;36(5):540

Abstract

Rett syndrome is caused by mutations in the gene MECP2 in approximately 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.

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