Myotonic dystrophy: Molecular genetics and diagnosis

Wiener Klinische Wochenschrift

Volumn 110, Issue 1, 1998, Pages 7-14

  Gharehbaghi Schnell, Elisabeth ^a   Finsterer, Josef ^a   Korschineck, Irina ^a   Mamoli, Bruno ^b   Binder, Bernd R ^a  

^a UNIVERSITY OF VIENNA   (Austria)

^b LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

Author keywords

Anticipation; Autosomal dominant pattern of inheritance; Myotonic dystrophy; Proteinkinase; Trinucleotide repeat expansion

Indexed keywords

GENE PRODUCT; PROTEIN SERINE THREONINE KINASE;

AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 19P; CLINICAL FEATURE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; MAJOR CLINICAL STUDY; MUSCLE DISEASE; MUSCULAR DYSTROPHY; MYOPATHY; PEDIGREE ANALYSIS; REVIEW;

ADULT; AUSTRIA; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DNA; HUMANS; MOLECULAR BIOLOGY; MYOTONIC DYSTROPHY; PEDIGREE; PROTEIN KINASES; TRINUCLEOTIDE REPEATS;

EID: 0032536025     PISSN: 00435325     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (68)

1. J. Harper PS (1989) Myotonic dystrophy, 2nd edn. WB Saunders, London
2. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, et al (1992) 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 68/4: 799-808
3. Howeler CJ, Busch FM, Geraedts JPM, Niermeijer MF, Staal A (1989) Anticipation in myotonic dystrophy: fact or fiction. Brain 112/3: 779-797
4. Jaspert A, Fahsold R, Grehl H, Claus D (1995) Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat. J Neurol 242/2: 99-104
5. Nakagawa M, Yamada H, Higuchi I, Kaminishi Y, Miki T, Johnson K, Osame M (1994) A case of paternally inherited congenital myotonic dystrophy. J Med Genet 31/5: 397-400
6. Brook JD, Knight SL, Roberts SH, Harley HG, Walsh KV, Rundle S, et al (1991) The physical map of chromosome 19 q: some new assignments, confirmations and reassessments. Hum Genet 87/1: 65-72
7. Brook JD, Harley HG, Walsh KV, Rundle S, Siciliano MJ, Harper PS, Shaw DJ (1991) Identification of new DNA markers close to the myotonic dystrophy locus. J Med Genet 28/2: 84-88
8. Korneluk RG, Mac Kenzie AE, Nukamura L, Dube I, Jacob P, Hunter AGW (1989) A reordering of human chromosome 19 long arm DNA markers and identification of markers flanking the myotonic dystrophy locus. Genomics 5/3: 596-604
9. Smeets H, Bachinski L, Coerwinkel M, Schepens J, Hoelimarkers J, Dwin M, et al (1990) A long range restriction map of the human chromosome 19q13 region: close physical linkage between cumm and ERCC1 and ERCC2 genes. Am J Hum Genet 46/3: 492-502
10. Fu Y-H, Pizutti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, et al (1992) An unstable triplet repeat in a gene related to myotonic dystrophy. Science 255 (5049): 1256-1258
11. Mahadevan M, Tsilfidis C, Sabourin L, Shotler G, Amemiya C, Jansen G, et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255 (5049): 1253-1255
12. Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT (1995) Hull-length myotonin protein kinase (72 kDa) displays serine kinase activity. Proc Natl Acad Sci USA 92/12: 5366-5370
13. Mahadevan M, Amemiya C, Jansen G, Sabourin L, Baird S, Neville CE, et al (1993) Structure and genomic sequence of the myotonic dystrophy (DM-kinase) gene. Hum Mol Genet 2/3: 299-304
14. Waring JD, Haq R, Tamai K, Sabourin LA, Ikeda J-E, Korneluk RG (1996) Investigation of myotonic dystrophy kinase isoform translocation and membrane association. J Biol Chem 271/25: 15187-15193
15. Imbert G, Kretz C, Johnson K, Mandel JL (1993) Origin of the expansion mutation in myotonic dystrophy. Nat Genet 4/1: 72-76
16. Thornton CA, Johnson K, Moxley III RT (1993) Myotonic dystrophy patients have larger CTG expansion in skeletal muscle than in leukocytes. Ann Neurol 35/1: 104-107
17. Wong L-J C, Ashizawa T, Monckton DG, Caskey CT, Richards CS (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56/1: 114-122
18. Giordano M, De Angelis MS, Mutani R, Richiardi PM (1994) Origin of a regressed myotonic dystrophy allele. J Med Genet 31/2: 130-132
19. Shelbourne P, Davies J, Buxton J, Anvret M, Blennow E, Bonduelle M, et al (1993) Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med 328/7: 471-475
20. Lavedan C, Hofmann-Fadvanyi H, Shelbourne P, Rabes P, Duros C, Savoy D, et al (1993) Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 52/5: 875-883
21. Monckton DG, Wong L-J C, Ashizawa T, Caskey CT (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reduction in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 4/1: 1-8
22. Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, et al (1992) Expansion of an unstable DNA region and phenotype variation in myotonic dystrophy. Nature 355 (6360): 545-546
23. Mahadevan MS, Foitzki MA, Surh LC, Korneluk RG (1993) Characterization and polymerase chain reaction (PCR) detection of an alu delection polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics 15/2: 446-448
24. Aslandis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, et al (1992) Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355 (6360): 548-551
25. Buxton J, Shelbourne P, Davies J, Jones E, Van Tongenen T, Aslandis C, et al (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355 (6360): 547-548
26. Deka R, Majumder PP, Shriver MD, Stivers DN, Zhong Y, Yu LM, et al (1996) Distribution and evolution of CTG repeats at the myotonin protein kinase gene in human populations. Genome Res 6/2: 142-54
27. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 (6330): 77-79
28. Orr HT, Chung M-Y, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, et al (1993) Expansion of an unstable trinucleotide repeat in spinocerebellar ataxia type 1. Nat Genet 4/3: 221-226
29. The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72/6: 971-983
30. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, et al (1994) Unstable expansions of CAG repeat in hereditary dentatorubralpallidluysian atrophy (DRPLA). Nat Genet 6/1: 9-13
31. Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, et al (1994) The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLs) in an African American family. Nat Genet 7/4: 521-524
32. Kawaguchi Y, Okamoto T, Taniwaki, Aizawa M, Inoue M, Katayama S, et al (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q23.1. Nat Genet 8/3: 221-228
33. Verkerk AJMH, Peretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizutti A, Reiner O, et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting lenght variation in fragile X-syndrome. Cell 65/5: 905-914
34. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeal expansion. Science 271 (5254): 1423-1427
35. Thornton CA, Griggs RC, Moxley III RT (1994) Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurology 35/3: 269-272
36. Meiner A, Wolf C, Carey N, Okitsu A, Johnson K, Shelbourne P, et al (1995) Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic couselling. J Med Genet 32/8: 645-649
37. Abbruzzese C, Krahe R, Liguori M, Tessarolo D, Siciliano MJ, Ashizawa T, Giacanelli M (1996) Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? J Neurol 243/10: 715-721
38. Meola G, Sansone V, Radice S, Skradski S, Ptacek L (1996) A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 6/3: 143-150
39. Hund E, Janse O, Koch MC, Ricker K, Fogel W, Niedermaier N, et al (1997) Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology 48/1: 33-37
40. Hunter A, Tsilfidis C, Mettler G, Jacob P, Mahadevan M, Surh L, et al (1992) The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 29/11: 774-779
41. Zatz M, Passos-Bueno MR, Cerqeira A, Marie SK, Vainzof M, Pavanello RC (1995) Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? Hum Mol Genet 4/3: 401-406
42. Pearson CE, Sinden RR (1996) Alternative stuctures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35/15: 5041-5053
43. Kang S, Oshima K, Shimizu M, Amirhaeri S, Wells RD (1995) Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J Biol Chem 270/45: 27014-27021
44. Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81/4: 533-540
45. Wang Y-H, Amirhaeri S, Kang S, Wells RD, Griffith JD (1994) Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 265 (5179): 669-671
46. Wang Y-H, Griffith J (1994) Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natureal nucleosome positioning elements. Genomics 25/2: 570-573
47. Otten AD, Tapscott SJ (1995) Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc Natl Acad Sci USA 92/12: 5465-5469
48. Boucher CA, King SK, Carey N, Krane R, Winchester CL, Rahman S, et al (1995) A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet 4/10: 1919-1925
49. Zimmer M, Fink T, Fischer L, Hauser W, Scherer K, Lichter P, Walter U (1996) Cloning of the VASP (vasodilator-stimulated phosphoprotein) genes in human and mouse: structure, sequence, and chromosomal localization. Genomics 36/2: 227-233
50. Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley III RT (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 16/4: 407-409
51. Klesert TR, Otten AD, Bird TD, Tapscott SJ (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet 16/4: 402-406
52. Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, et al (1995) Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 28/1: 1-14
53. Timchenko LT, Timchenko NA, Caskey CT, Roberts R (1996) Novel proteins with binding activity for DNA CTG and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet 5/1: 115-121
54. Bhagwati S, Ghatpande A, Leung B (1996) Identification of two nuclear proteins which bind to RNA CUG repeats: significance for myotonic dystrophy. Biochem Biophys Res Commun 228 1: 55-62
55. Hamshere MG, Newman EE, Alwazzan M, Athwal BS, Brook JD (1997) Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighbouring genes. Proc Natl Acad Sci USA 94/14: 7394-7399
56. Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 128/6: 995-1002
57. Roses AD, Appel SH (1973) Protein kinase activity in erythrocyte ghosts of patients with myotonic muscular dystrophy. Proc Natl Acad Sci USA 70/6: 1855-1859
58. Dunne PW, Ma L, Casey DL, Harati Y, Epstein HF (1996) Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease. Cell Mol Cytoskeleton 33/1: 52-63
59. Shimokawa M, Ishiura S, Kameda N, Yamamoto M, Sasagwa N, Saitoh N, et al (1997) Novel isoform of myotonin protein kinase: gene product of myotonic dystrophy is localized in the sarcoplasmic reticulum of skeletal muscle. Am J Pathology 150/4: 1285-1295
60. Van der Ven PFM, Jansen G, Van Kuppevelt THMSM, Perryman MB, Lupa M, Dunne PW, et al (1993) Myotonic dystrophy kinase is a component of neuromuscular junctions. Hum Mol Genet 2/11: 1889-1894
61. Maeda M, Taft CS, Bush EW, Holder E, Bailey WM, Neville H, et al (1995) Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein. J Biol Chem 270/35: 20246-20249
62. Gennarelli M, Lucarelli M, Zelano G, Pizzuti A, Novelli G, Dallapiccola B (1995) Different expression of the myotonin protein kinase gene in discrete areas of human brain. Biochem Biophys Res Commun 216/2: 489-494
63. Jansen G, Groenenen PJTA, Bächner D, Jap PHK, Coerwinkel M, Oerlemans F, et al (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Geneet 13/3: 316-324
64. Reddy S, Smith DBJ, Rich MM, Leferovich JM, Reilly P, Davis BM, et al (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 13/3: 325-335
65. Gennarelli M, Novelli G, Andreasi-Bassi F, Martorell L, Cornet M, Menegazzo E, et al (1996) Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats. Am J Med Genet 65/4: 342-347
66. Guida M, Marger RS, Papp AC, Snyder PJ, Sedra MS, Kissel JT, et al (1995) A molecular protocol for diagnosing myotonic dystrophy. Clin Chem 41/1: 69-72
67. Myring J, Meredith AL, Harley HG, Kohn G, Norbury G, Harper PS, Shaw D (1992) Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. J Med Genet 29/11: 785-788
68. Smeets HJM, Nillesen WM, Los F, Busch HFM, Korneluk RG, Wieringa B, Brunner HG (1992) Prenatal diagnosis of myotonic dystrophy by direct mutation analysis. Lancet 340 (8813): 237-238