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

      Science (New York, N.Y.)

      Alleles, Blotting, Southern, Chromosome Mapping, Chromosomes, Human, Pair 3, genetics, DNA-Binding Proteins, chemistry, metabolism, Diseases in Twins, Female, Humans, In Situ Hybridization, Fluorescence, Introns, Linkage Disequilibrium, Lod Score, Male, Microsatellite Repeats, Muscles, Mutation, Myotonic Dystrophy, Phenotype, Polymerase Chain Reaction, RNA, Messenger, RNA-Binding Proteins, Twins, Monozygotic, Zinc Fingers

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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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          Author and article information

          Journal
          11486088
          10.1126/science.1062125

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