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    Nat Genet. 2004 Apr;36(4):339-41. Epub 2004 Mar 21.

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

    Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA.

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    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

    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.

    PMID:
    15034579
    [PubMed - indexed for MEDLINE]

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