Neuroepidemiology

Original Paper

Epidemiological and Genetic Studies of Myotonic Dystrophy Type 1 in Taiwan

Hsiao K.M.a · Chen S.S.f · Li S.Y.a · Chiang S.Y.b · Lin H.M.b · Pan H.a · Huang C.C.g · Kuo H.C.g · Jou S.B.d · Su C.C.b,h · Ro L.S.g · Liu C.S.i · Lo M.C.i · Chen C.M.c · Lin C.C.e

Author affiliations

aDepartment of Life Sciences, bInstitute of Medicine and cDepartment of Neurology, Chung Shan Medical University, and Departments of dNeurology and eMedical Research, China Medical College Hospital, Taichung; fDepartment of Neurology, Chang Gung Memorial Hospital, Kaohsiung; gDepartment of Neurology, Chang Gung Memorial Hospital, Taipei; hTian-Sheng Memorial Hospital, Tong Kang, Pin-Tong, and iDepartment of Neurology, Changhua Christian Hospital, Changhua, Taiwan

Keywords: PrevalenceCTG trinucleotide repeatMyotonic dystrophy type 1Genetic studyTaiwan

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Neuroepidemiology 2003;22:283–289
https://doi.org/10.1159/000071191

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: August 08, 2003
Issue release date: September – October

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 0

ISSN: 0251-5350 (Print)
eISSN: 1423-0208 (Online)

For additional information: https://www.karger.com/NED

Abstract

To investigate the prevalence and genetic characteristics of myotonic dystrophy type 1 (DM1) in Taiwan, DM-suspected patients and their families identified during the period of 1990–2001 had their clinical records reevaluated and the CTG repeat sizes at the DM1 locus examined. A total of 96 subjects belonging to 26 families were identified as DM1 patients, which gave a minimal disease prevalence of 0.46/100,000 inhabitants. Clinical anticipation was frequently observed in affected families, even in some parent-child pairs with transmission contraction of the CTG repeat size. The inverse correlation between age at onset and CTG repeat length was significant only in patients with small expansions. In addition, a DM1 carrier with a childhood-onset son was found to have CTG length heterogeneity in the range of 40–50, indicating that premutation alleles could be unstable during gametogenesis as well as in somatic tissues. Our data demonstrated that DM1 is a rare disease in Taiwan and showed that transmission contraction of repeat size is more likely to occur in alleles with large repeats.

© 2003 S. Karger AG, Basel



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References

  1. Harper PS: Myotonic Dystrophy, ed 2. London, Saunders, 1989.
  2. The International Myotonic Dystrophy Consortium (IDMC): New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000;54:1218–1221.
    External Resources
  3. Fu YH, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256–1258.
    External Resources
  4. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O’Hoy K, Leblond S, Earle-Macdonald J, de Jong PJ, Wieringa B, Korneluk RG: Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253–1255.
    External Resources
  5. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Johns C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE: Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799–808.
    External Resources
  6. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP: Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864–867.
    External Resources
  7. Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH: Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995;128:995–1002.
    External Resources
  8. Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE: Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci USA 1997;94:7388–7393.
    External Resources
  9. Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, Willer JC, Ourth L, Duros C, Brisson E, Fouquet C, Butler-Browne G, Delacourte A, Junien C, Gourdon G: Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet 2001;10:2717–2726.
    External Resources
  10. Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, Fenton I, Shaw DJ, Harper PS: Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993;52:1164–1174.
    External Resources
  11. Martorell L, Monckton DG, Sanchez A, Lopez De Munain A, Baiget M: Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 2001;56:328–335.
    External Resources
  12. Osame M, Furusho T: Genetic epidemiology of myotonic dystrophy in Kagoshima and Okinawa districts in Japan. Rinsho Shinkeigaku 1983;23:1067–1071.
    External Resources
  13. Ashizawa T, Epstein HF: Ethnic distribution of the myotonic dystrophy gene. Lancet 1991;338:642–643.
  14. Goldman A, Ramsay M, Jenkins T: Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. J Med Genet 1994;31:37–40.
    External Resources
  15. Mor-Cohen R, Magal N, Gadoth N, Shohat T, Shohat M: Correlation between the incidence of myotonic dystrophy in different groups in Israel and the number of CTG trinucleotide repeats in the myotonin gene. Am J Med Genet 1997;71:156–159.
    External Resources
  16. Pan H, Lin HM, Ku WY, Li TC, Li SY, Lin CC, Hsiao KM: Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: Implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1. Eur J Hum Genet 2001;9:638–641.
    External Resources
  17. Monckton DG, Coolbaugh MI, Aashizawa KT, Siciliano MJ, Caskey CT: Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nat Genet 1997;15:193–196.
    External Resources
  18. Hsiao KM, Lin HM, Pan H, Li TC, Chen SS, Jou SB, Chiu YL, Wu MF, Lin CC, Li SY: Application of FTA® sample collection and DNA purification system on the determination of CTG trinucleotide repeat size by PCR-based Southern blotting. J Clin Lab Anal 1999;13:188–193.
    External Resources
  19. Zhang S, Wu H, Pan A, Xiao C, Zhang G, Hou Y, Chu J: Low incidence of myotonic dystrophy in Chinese Hans is associated with a lower number of CTG trinucleotide repeats. Am J Med Genet 2000;96:425–428.
    External Resources
  20. Gennarelli M, Novelli G, Andreasi Bassi F, Martorell L, Cornet M, Menegazzo E, Mostacciuolo ML, Martinez JM, Angelini C, Pizzuti A, Baiget M, Dallapiccola B: Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats. Am J Med Genet 1996;65:342–347.
    External Resources
  21. Simmons Z, Thornton CA, Seltzer WK, Richards CS: Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy. Neurology 1998;50:1501–1504.
    External Resources
  22. Novelli G, Gennarelli M, Menegazzo E, Mostacciuolo ML, Pizzuti A, Fattorini C, Tessarolo D, Tomelleri G, Giacanelli M, Danieli GA, Rizzuto N, Caskey CT, Angelini C, Dallapiccola B: (CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients. Biochem Med Metab Biol 1993;50:85–92.
    External Resources
  23. Jaspert A, Fahsold R, Grehl H, Claus D: Myotonic dystrophy: Correlation of clinical symptoms with the size of the CTG trinucleotide repeat. J Neurol 1995;242:99–104.
    External Resources
  24. Marchini C, Lonigro R, Verriello L, Pellizzari L, Bergonzi P, Damante G: Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clin Genet 2000;57:74–82.
    External Resources
  25. Hamshere MG, Harley H, Harper P, Brook JD, Brookfield JF: Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J Med Genet 1999;36:59–61.
    External Resources
  26. Savic D, Rakocvic-Stojanovic V, Keckarevic D, Culjkovic B, Stojkovic O, Mladenovic J, Todorovic S, Apostolski S, Romac S: 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1. Hum Mutat 2002;19:131–139.
    External Resources
  27. Hamshere MG, Newman EE, Alwazzan M, Athwal BS, Brook JD: Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc Natl Acad Sci USA 1997;94:7394–7399.
    External Resources
  28. Reddy S, Smith DB, Rich MM, Leferovich JM, Reilly P, Davis BM, Tran K, Rayburn H, Bronson R, Cros D, Balice-Gordon RJ, Housman D: Mice lacking the myotonic dystrophy protein kinase develop a late-onset progressive myopathy. Nat Genet 1996;13:325–335.
    External Resources
  29. Berul CI, Maguire CT, Aronovitz MJ, Greenwood J, Miller C, Gehrmann J, Housman D, Mendelsohn ME, Reddy S: DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 1999;103:R1–R7.
    External Resources
  30. Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA: Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002;10:35–44.
  31. Charlet-B N, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA: Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002;10:45–53.
  32. Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA: Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000;289:1769–1773.
    External Resources
  33. Abeliovich D, Lerer I, Pashut-Lavon I, Shmueli E, Raas-Rothschild A, Frydman M: Negative expansion of the myotonic dystrophy unstable sequence. Am J Hum Genet 1993;52:1175–1181.
    External Resources
  34. Ashizawa T, Anvret M, Baiget M, Barcelo JM, Brunner H, Cobo AM, Dallapiccola B, Fenwick RG Jr, Grandell U, Harley H, Junien C, Koch MC, Korneluk RG, Lavedan C, Miki T, Mulley JC, Lopez de Munain A, Novelli G, Roses AD, Seltzer WK, Shaw DJ, Smeets H, Sutherland GR, Yamagata H, Harper PS: Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 1994;54:414–423.
    External Resources
  35. Lopez de Munain A, Cobo AM, Saenz A, Blanco A, Poza JJ, Martorell L, Marti-Masso JF, Baiget M: Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy. Genet Epidemiol 1996;13:483–487.
    External Resources
  36. Hortas ML, Castilla JA, Gil MT, Molina J, Garrido ML, Morell M, Redondo M: Decreased sperm function of patients with myotonic muscular dystrophy. Hum Reprod 2000;15:445–448.
    External Resources
  37. Jansen G, Willems P, Coerwinkel M, Nillesen W, Smeets H, Vits L, Howeler C, Brunner H, Wieringa B: Gonosomal mosaicism in myotonic dystrophy patients: Involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 1994;54:575–585.
    External Resources
  38. Ishii S, Nishio T, Sunohara N, Yoshihara T, Takemura K, Hikiji K, Tsujino S, Sakuragawa N: Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy. Hum Genet 1996;98:138–140.
    External Resources
  39. Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edstrom L: Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 1993;2:1397–1400.
    External Resources
  40. Thornton CA, Johnson K, Moxley III RT: Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 1994;35:104–107.
    External Resources
  41. Martorell L, Johnson K, Boucher CA, Baiget M: Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet 1997;6:877–880.
    External Resources
  42. McMurray CT: DNA secondary structure: A common and causative factor for expansion in human disease. Proc Natl Acad Sci USA 1999;96:1823–1825.
    External Resources
  43. van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, Groenen PJ, Wieringa B: Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet 2002;11:191–198.
    External Resources

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Published online: August 08, 2003
Issue release date: September – October

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 0

ISSN: 0251-5350 (Print)
eISSN: 1423-0208 (Online)

For additional information: https://www.karger.com/NED

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