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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

Science  03 Aug 2001:
Vol. 293, Issue 5531, pp. 864-867
DOI: 10.1126/science.1062125

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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 DM1 and DM2.

  • * To whom correspondence should be addressed. E-mail: johnday{at}umn.edu (J.W.D.); ranum001{at}umn.edu(L.P.W.R.).

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