Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2)

Journal of Molecular Diagnostics

Volumn 12, Issue 5, 2010, Pages 601-606

  Catalli, Claudio ^a   Morgante, Alessandra ^a   Iraci, Raniero ^b   Rinaldi, Fabrizio ^a   Botta, Annalisa ^a   Novelli, Giuseppe ^a,b,c  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^c FATEBENEFRATELLI HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA;

ARTICLE; CAG REPEAT; CAPILLARY ELECTROPHORESIS; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA EXTRACTION; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MOSAICISM; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PREDICTIVE VALIDITY; PROSPECTIVE STUDY; RANDOMIZED CONTROLLED TRIAL; SENSITIVITY AND SPECIFICITY; SOUTHERN BLOTTING; TETRAPLET PRIMED POLYMERASE CHAIN REACTION;

EID: 77956811925     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.090239     Document Type: Article

References (35)

1. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT 3rd: Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts, Neurology 1994, 44:1448-1452
2. Thornton CA, Griggs RC, Moxley RT 3rd: Myotonic dystrophy with no trinucleotide repeat expansion, Ann Neurol 1994, 35:269-272 (Pubitemid 24089648)
3. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Speich N, Reiners K, Schneider C, Moxley RT 3rd: Proximal myotonic myopathy: clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995, 52:25-31
4. Abbruzzese C, Krahe R, Liguori M, Tessarolo D, Siciliano MJ, Ashizawa T, Giacanelli M: Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? J Neurol 1996, 243:715-721
5. Meola G, Sansone V: A newly-described myotonic disorder (proximal myotonic myopathy-PROMM): personal experience and review of the literature. Ital J Neurol Sci 1996, 17:347-353
6. Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforet P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B: Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003, 60:1854-1857
7. Pisani V, Panico MB, Terracciano C, Bonifazi E, Meola G, Novelli G, Bernardi G, Angelini C, Massa R: Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve 2008, 38:1405-1411
8. George A, Schneider-Gold C, Zier S, Reiners K, Sommer C: Musculoskeletal pain in patients with myotonic dystrophy type 2. Arch Neurol 2004, 61:1938-1942 (Pubitemid 39612956)
9. Meola G, Sansone V: Cerebral involvement in myotonic dystrophies. Muscle Nerve 2007, 36:294-306
10. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP: Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003, 60:657-664
11. Rotondo G, Sansone V, Cardani R, Mancinelli E, Krahe R, Stangalini D, Meola G: Proximal myotonic dystrophy mimicking progressive muscular atrophy. Eur J Neurol 2005, 12:160-161
12. Auvinen S, Suominen T, Hannonen P, Bachinski LL, Krahe R, Udd B: Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. Arthritis Rheum 2008, 58:3627-3631
13. Merlini L, Sabatelli P, Columbaro M, Bonifazi E, Pisani V, Massa R, Novelli G: Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Muscle Nerve 2005, 31:764-767 (Pubitemid 40734686)
14. Schara U, Schoser BG: Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin Pediatr Neurol 2006, 13:71-79
15. 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, Jones 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
16. 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
17. Tishkoff SA, Goldman A, Calafell F, Speed WC, Deinard AS, Bonne-Tamir B, Kidd JR, Pakstis AJ, Jenkins T, Kidd KK: A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am J Hum Genet 1998, 62:1389-1402
18. 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
19. Hunter A, Tsilfidis C, Mettler G, Jacob P, Mahadevan M, Surh L, Korneluk R: The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 1992, 29:774-779
20. Bonifazi E, Vallo L, Giardina E, Botta A, Novelli G: A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn Mol Pathol 2004, 13:164-166
21. Warner JP, Barron LH, Goudie D, Kelly K, Dow D, Fitzpatrick DR, Brock DJ: A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996, 33:1022-1026 (Pubitemid 27023403)
22. Falk M, Vojtiskova M, Lukas Z, Kroupova I, Froster U: Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci. Genet Test 2006, 10:85-97
23. Botta A, Bonifazi E, Vallo L, Gennarelli M, Garre C, Salehi L, Iraci R, Sansone V, Meola G, Novelli G: Italian guidelines for molecular analysis in myotonic dystrophies. Acta Myol 2006, 25:23-33
24. Gennarelli M, Pavoni M, Amicucci P, Novelli G, Dallapiccola B: A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy. Diagn Mol Pathol 1998, 7:135-137
25. Richards RI, Sutherland GR: Dynamic mutations: a new class of mutations causing human disease. Cell 1992, 70:709-712
26. Pearson CE, Nichol Edamura K, Cleary JD: Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet 2005, 6:729-742
27. Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T: Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000, 26:191-194
28. 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 (Pubitemid 23311358)
29. Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT: Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991, 67:1047-1058
30. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427
31. Jakubiczka S, Vielhaber S, Kress W, Kupferling P, Reuner U, Kunath B, Wieacker P: Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics 2004, 5:55-59 (Pubitemid 38297475)
32. Cagnoli C, Stevanin G, Michielotto C, Gerbino Promis G, Brussino A, Pappi P, Durr A, Dragone E, Viemont M, Gellera C, Brice A, Migone N, Brusco A: Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. J Mol Diagn 2006, 8:128-132
33. Majounie E, Wardle M, Muzaimi M, Cross WC, Robertson NP, Williams NM, Morris HR: Case control analysis of repeat expansion size in ataxia. Neurosci Lett 2007, 429:28-32
34. Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, Gellera C, Migone N, Brusco A: Detection of large pathogenic expansions in FRDA1. SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn 2004, 6:96-100
35. Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ: A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008, 10:43-49 (Pubitemid 351184834)