Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 |
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| Authors: | Liquori C L Ricker K Moseley M L Jacobsen J F Kress W Naylor S L Day J W Ranum L P |
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| Institution: | Institute of Human Genetics; MMC 206, 420 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455, USA. |
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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 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. |
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