Myotonic dystrophy type 2 caused by a CCTG expansion in intron I of ZNF9

C. L. Liquori, K. Ricker, M. L. Moseley, J. F. Jacobsen, W. Kress, S. L. Naylor, J. W. Day, L. P.W. Ranum

Research output: Contribution to journalArticlepeer-review

908 Scopus citations

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 ∼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 DH1 and DM2.

Original languageEnglish (US)
Pages (from-to)864-867
Number of pages4
JournalScience
Volume293
Issue number5531
DOIs
StatePublished - Aug 3 2001

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