John W. Day, MD, PhD

Publication Details

  • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 SCIENCE Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kress, W., NAYLOR, S. L., Day, J. W., Ranum, L. P. 2001; 293 (5531): 864-867

    Abstract:

    Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3' untranslated region of the dystrophia myotonica-protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report that DM2 is caused by a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the zinc finger protein 9 (ZNF9) gene. Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2.

    View details for Web of Science ID 000170241000045

    View details for PubMedID 11486088

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