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

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

Nature genetics (2004-03-23)
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
PMID15034579
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.