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Science. 2001 Aug 3;293(5531):864-7.

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.

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1
Institute of Human Genetics; MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA.

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.

PMID:
11486088
DOI:
10.1126/science.1062125
[Indexed for MEDLINE]
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