Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions

Journal of Neurology

Volumn 260, Issue 5, 2013, Pages 1245-1257

  Santoro, Massimo ^a   Masciullo, Marcella ^b,c   Pietrobono, Roberta ^b   Conte, Giulia ^b   Modoni, Anna ^b   Bianchi, Maria Laura E ^b   Rizzo, Valentina ^b   Pomponi, Maria Grazia ^b   Tasca, Giorgio ^a   Neri, Giovanni ^b   Silvestri, Gabriella ^b  

^a IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c IRCCS SAN RAFFAELE PISANA   (Italy)

Author keywords

Myotonic dystrophy type 1; Steinert's disease; Variant expansions

Indexed keywords

MBNL1 PROTEIN, HUMAN; MYOTONIC DYSTROPHY PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE; RNA BINDING PROTEIN; DMPK PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; ELECTROMYOGRAPHY; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HUMAN; ITALY; MALE; METABOLISM; MIDDLE AGED; MYOTONIC DYSTROPHY; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE; TRINUCLEOTIDE REPEAT;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; EXONS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; ITALY; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYOTONIC DYSTROPHY; NEUROLOGIC EXAMINATION; PROTEIN-SERINE-THREONINE KINASES; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION; MYOTONIN-PROTEIN KINASE;

EID: 84891504478     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6779-9     Document Type: Article

References (47)

1. Harper PS (2001) Myotonic Dystrophy, 3rd edn. WB Saunders, London.
2. Machuca-Tzili L, Brook D, Hilton-Jones D (2005) Clinical and molecular aspects of the myotonic dystrophies. Muscle Nerve 32:1-18.
3. Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, De Jong P et al (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-1258.
4. Harley HG, Rundle SA, Reardon W, Myring J, Crow S, Brook JD, Harper PS, Shaw DJ (1992) Unstable DNA sequence in myotonic dystrophy. Lancet 339:1125-1128.
5. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K et al (1992) Myotonic dystrophy mutation: An unstable CTG repeat in the 30 untranslated region of the gene. Science 255:1253-1255.
6. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleoti De(CTG) repeat at the 30 end of a transcript encoding a protein kinase family member. Cell 68:799-808.
7. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C (1993) Myotonic dystrophy: size- And sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 52:1164-1174.
8. Monckton DG, Wong LJ, Ashizawa T, Caskey CT (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 4:1-8.
9. Martorell L, Monckton DG, Sanchez A, Lopez De Munain A, Baigetm M (2001) Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 56:328-335.
10. Lopez Castel A, Cleary JD, Pearson CE (2010) Repeat instability as the basis for human diseases and as a potential target for therapy. Nat Rev Mol Cell Biol 11:165-170.
11. Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C et al (2010) Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet 19:1399-1412.
12. Musova Z, Mazanec R, Krepelova A, Ehler E, Vales J, Jaklova R, Prochazka T, Koukal P, Marikova T, Kraus J et al (2009) Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. Am J Med Genet 149A:1365-1374.
13. Pearson CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR (1998) Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37:2701-2708.
14. Choudhry S, Mukerji M, Srivastava AK, Jain S, Brahmachari SK (2001) CAG repeat instability at SCA2 locus: Anchoring CAA interruptions and linked single nucleotiDepolymorphisms. Hum Mol Genet 10:2437-2446.
15. Warner JP, Barron LH, Goudie D, Kelly K, Dow D, Fitzpatrick DR, Brock DJ (1996) A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 33:1022-1026.
16. Radvansky J, Ficek A, Minarik G, Palffy R, Kadasi L (2011) Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing. Diagn Mol Pathol 20:48-51.
17. Mathieu J, Boivin H, Meunier D, Gaudreault M, Begin P (2001) Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurology 56:336-340.
18. Modoni A, Silvestri G, Pomponi MG, Mangiola F, Tonali PA, Marra C (2004) Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Arch Neurol 61:1943-1947.
19. Dello Russo A, Mangiola F, Della Bella P, Nigro G, Melacini P, Bongiorni MG (2009) Risk of arrhythmias in myotonic dystrophy: Trial design of the RAMYD study. J Cardiovasc Med 10:51-58.
20. Gennarelli M, Pavoni M, Amicucci P, Novelli G, Dallapiccola B (1998) A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy. Diagn Mol Pathol 7:135-137.
21. Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd AG, Latham GJ et al (2010) A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem 56:399-408.
22. Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J, Sekinger E, Pan R, Hagerman PJ, Stenzel TT, Tassone F et al (2010) An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn 12:589-600.
23. Santoro M, Modoni A, Masciullo M, Gidaro T, Broccolini A, Ricci E, Tonali PA, Silvestri G (2010) Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). Exp Mol Pathol 89:158-168.
24. Savkur RS, Philips AV, Cooper TA (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29:40-47.
25. Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737-741.
26. Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S (2005) Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2 -ATPase in myotonic dystrophy type 1. Hum Mol Genet 14:2189-2200.
27. Charlet-B N, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA (2002) Loss of the muscle-specific chloriDechannel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10:45-53.
28. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19:4439-4448.
29. Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA (2003) Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 54:760-768.
30. Eckert KA, Hile SE (2009) Every microsatellite is different: intrinsic DNA features dictate mutagenesis of common microsatellites present in the human genome. Mol Carcinog 48:379-388.
31. Leeflang EP, Arnheim N (1995) A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability. Hum Mol Genet 4:135-136.
32. Harper PS (1994) Myotonic dystrophies. In: Engel AG, Franzini- Armstrong C (eds) Myology, 2nd edn. McGraw-Hill Inc., USA, pp 1192-1219.
33. International Myotonic Dystrophy Consortium (IDMC) (2000) New nomenclature and DNA testing guidelines for myotonic dystrophy type I (DM1). Neurology 54:1218-1221.
34. Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, Fenton I, Shaw DJ, Harper PS (1993) Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 52:1164-1174.
35. Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu YH, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF et al (1992) Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology 42:1877-17833.
36. Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW et al (2011) A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat 32:669-677.
37. Kornblum C, Lutterbey G, Bogdanow M, Kesper K, Schild H, Schroder R, Wattjes MP (2006) Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2: A whole body highfield MRI study. J Neurol 253:753-761.
38. Stramare R, Beltrame V, Dal Borgo R, Gallimberti L, Frigo AC, Pegoraro E, Angelini C, Rubaltelli L, Feltrin GP (2010) MRI in the assessment of muscular pathology: A comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med 115:585-599.
39. Modoni A, Silvestri G, Vita MG, Quaranta D, Tonali PA, Marra C (2008) Cognitive impairment in myotonic dystrophy type 1 (DM1): A longitudinal follow-up study. J Neurol 255:1737-1742.
40. Meola G, Sansone V, Perani D, Scarone S, Cappa S, Dragoni C, Cattaneo E, Cotelli M, Gobbo C, Fazio F et al (2003) Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord 13:813-821.
41. Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edstrom L (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 2:1397-1400.
42. Ashizawa T, Dubel JR, Harati Y (1993) Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43:2674-2678.
43. Thornton CA, Johnson KJ, Moxley RT (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 35:104-107.
44. Lopez Castel A, Nakamori M, Tome S, Chitayat D, Gourdon G, Thornton CA, Pearson CE (2011) Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Hum Mol Genet 20:1-15.
45. Cleary JD, Tome S, Lopez Castel A, Panigrahi GB, Foiry L, Hagerman KA, Sroka H, Chitayat D, Gourdon G, Pearson CE (2010) Tissue- And age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus. Nat Struct Mol Biol 17:1079-1087.
46. Lee JE, Cooper TA (2009) Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans 37:1281-1286.
47. Prior TW (2009) Technical standards and guidelines for myotonic dystrophy type 1 testing. Genet Med 11:552-555.