2001
DOI: 10.1126/science.1062125
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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

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… Show more

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Cited by 1,136 publications
(977 citation statements)
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“…7 Myotonic dystrophy is caused by abnormally expanded CTG repeats in the 3 0 untranslated region of the DMPK gene encoding the dystrophia myotonica protein kinase on chromosome 19q13 (myotonic dystrophy type 1, DM1) [8][9][10] or by abnormally expanded CCTG repeats in intron 1 of the ZNF9 gene encoding the zinc finger protein 9 on chromosome 3q21 (myotonic dystrophy type 2, DM2). 11 In DM1, normal individuals have 5-30 repeats; mildly affected individuals have 50-80 repeats; and severely affected individuals have 2000 or more repeats of CTG. 12,13 In DM2, the size of expanded repeats is extremely variable, ranging from 75 to 11 000 repeats, with a mean of 5000 CCTG repeats.…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…7 Myotonic dystrophy is caused by abnormally expanded CTG repeats in the 3 0 untranslated region of the DMPK gene encoding the dystrophia myotonica protein kinase on chromosome 19q13 (myotonic dystrophy type 1, DM1) [8][9][10] or by abnormally expanded CCTG repeats in intron 1 of the ZNF9 gene encoding the zinc finger protein 9 on chromosome 3q21 (myotonic dystrophy type 2, DM2). 11 In DM1, normal individuals have 5-30 repeats; mildly affected individuals have 50-80 repeats; and severely affected individuals have 2000 or more repeats of CTG. 12,13 In DM2, the size of expanded repeats is extremely variable, ranging from 75 to 11 000 repeats, with a mean of 5000 CCTG repeats.…”
Section: Introductionmentioning
confidence: 99%
“…12,13 In DM2, the size of expanded repeats is extremely variable, ranging from 75 to 11 000 repeats, with a mean of 5000 CCTG repeats. 11,14 In DM1 and DM2, expanded CTG or CCTG repeats in the noncoding regions sequestrate a splicing trans-factor muscleblind encoded by MBNL1 to intranuclear RNA foci harboring mutant RNA. 15 In addition, in DM1 cells, another splicing trans-factor CUG-binding protein encoded by CUGBP1 is hyperphosphorylated by protein kinase C and is stabilized.…”
Section: Introductionmentioning
confidence: 99%
“…A long CCTG expansion in the intron 1 in a zinc finger protein ZNF9 gene has been correlated to the type 2 myotonic dystrophy in the twin with higher susceptibility [31]. Given that the expansion motif has high affinity to certain RNA-binding proteins, the interfering role of intron-derived expansion fragments remains to be elucidated.…”
Section: Mirnas and Human Diseasesmentioning
confidence: 99%
“…1,2 Until the early 1990s, myotonic dystrophy was considered to be a homogeneous disease, but in the mid 1990 s, a subset of patients were identified who differed genetically 15 and phenotypically from patients with DM1 (Table 3). 1 Important distinctions of DM2 patients are the predominance of proximal muscle weakness and a milder disease course compared with DM1 patients.…”
Section: Discussionmentioning
confidence: 99%