Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

European Journal of Human Genetics

Volumn 19, Issue 9, 2011, Pages 974-980

  Cacciottolo, Mafalda ^a   Numitone, Gelsomina ^a   Aurino, Stefania ^a   Caserta, Imma Rosaria ^a   Fanin, Marina ^b   Politano, Luisa ^a   Minetti, Carlo ^c   Ricci, Enzo ^d   Piluso, Giulio ^a   Angelini, Corrado ^b   Nigro, Vincenzo ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

comparative genomic hybridization; dysferlin; limb girdle muscular dystrophy; Miyoshi myopathy; nonsense mediated mRNA decay

Indexed keywords

COMPLEMENTARY DNA; DYSFERLIN; GENOMIC DNA; MESSENGER RNA;

ADULT; AGED; ALLELE; ARTICLE; BASE PAIRING; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSFERLINOPATHY; EXON; GENE DUPLICATION; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR MECHANICS; MUSCULAR DYSTROPHY; MUTAGEN TESTING; NONSENSE MEDIATED MRNA DECAY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REAL TIME POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADULT; AGED; COMPARATIVE GENOMIC HYBRIDIZATION; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR ATROPHY; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; NONSENSE MEDIATED MRNA DECAY;

EID: 80052033151     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.70     Document Type: Article

References (47)

1. Bashir R, Britton S, Strachan T et al: A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998; 20: 37-42. (Pubitemid 28410340)
2. Liu J, Aoki M, Illa I et al: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31-36. (Pubitemid 28410339)
3. Illa I, Serrano-Munuera C, Gallardo E et al: Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001; 49: 130-134. (Pubitemid 32163018)
4. Nguyen K, Bassez G, Krahn M et al: Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007; 64: 1176-1182. (Pubitemid 47258078)
5. Ueyama H, Kumamoto T, Horinouchi H et al: Clinical heterogeneity in dysferlinopathy. Intern Med 2002; 41: 532-536. (Pubitemid 34846253)
6. Paradas C, Llauger J, Diaz-Manera J et al: Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology 2010; 75: 316-323.
7. Borsato CPR, Fanin M, Pegoraro E et al: Relation between LGMB2B progression and physical activity. Neuromuscul Disord 2007; 17: 1.
8. Klinge L, Aboumousa A, Eagle M et al: New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry 2010; 81: 946-953.
9. Anderson LV, Harrison RM, Pogue R et al: Secondary reduction in calpain-3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 2000; 10: 553-559.
10. Matsuda C, Hayashi YK, Ogawa M et al: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001; 10: 1761-1766. (Pubitemid 32899093)
11. Bolduc V, Marlow G, Boycott KM et al: Recessive mutations in the putative calciumactivated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet 2010; 86: 213-221.
12. Krahn M, Beroud C, Labelle V et al: Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 2009; 30: E345-E375.
13. van der Kooi AJ, Frankhuizen WS, Barth PG et al: Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology 2007; 68: 2125-2128. (Pubitemid 46912131)
14. Guglieri M, Magri F, D'AngeloMG et al: Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008; 29: 258-266. (Pubitemid 351240598)
15. Rosales XQ, Gastier-Foster JM, Lewis S et al: Novel diagnostic features of dysferlinopathies. Muscle Nerve 2010; 42: 14-21.
16. Wenzel K, Carl M, Perrot A et al: Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Hum Mutat 2006; 27: 599-600.
17. Shunchang S, Fan Q, Huacheng W et al: Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. Clin Neurol Neurosurg 2006; 108: 369-373.
18. Nguyen K, Bassez G, Bernard R et al: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 2005; 26: 165.
19. Liewluck T, Pongpakdee S, Witoonpanich R et al: Novel DYSF mutations in Thai patients with distal myopathy. Clin Neurol Neurosurg 2009; 111: 613-618.
20. Santos R, Oliveira J, Vieira E et al: Private dysferlin exon skipping mutation (c.5492G4A) with a founder effect reveals further alternative splicing involving exons 49-51. J Hum Genet 2010; 55: 546-549.
21. Leshinsky-Silver E, Argov Z, Rozenboim L et al: Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. Neuromuscul Disord 2007; 17: 950-954. (Pubitemid 350137732)
22. Ro LS, Lee-Chen GJ, Lin TC et al: Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. Arch Neurol 2004; 61: 1594-1599.
23. Fanin M, Nascimbeni AC, Aurino S et al: Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology 2009; 72: 1432-1435.
24. Takahashi T, Aoki M, Tateyama M et al: Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Neurology 2003; 60: 1799-1804. (Pubitemid 36737077)
25. Oh SH, Kang SW, Lee JG, Na SJ, Kim TS, Choi YC: Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B. J Kor Med Sci 2004; 19: 447-452.
26. Fanin M, Nascimbeni AC, Angelini C: Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. Neuromuscul Disord 2006; 16: 792-799. (Pubitemid 44646857)
27. O'Donovan MC, Oefner PJ, Roberts SC et al: Blind analysis of denaturing highperformance liquid chromatography as a tool for mutation detection. Genomics 1998; 52: 44-49. (Pubitemid 28452169)
28. Ho M, Gallardo E, McKenna-Yasek D et al: A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol 2002; 51: 129-133. (Pubitemid 34027987)
29. Nigro V, Okazaki Y, Belsito A et al: Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 1997; 6: 601-607. (Pubitemid 27142112)
30. den Dunnen JT, Antonarakis SE: Mutation nomenclature; in Haines JL et al (eds): Current Protocols in Human Genetics. New York: John Wiley and Sons, Inc., 2003, Chapter 7, Unit 7 13.
31. den Dunnen JT, Antonarakis SE: Nomenclature for the description of human sequence variations. Hum Genet 2001; 109: 121-124. (Pubitemid 32743202)
32. den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7-12. (Pubitemid 30036162)
33. Desmet FO, Hamroun D, Lalande M et al: Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucl Acids Res 2009; 37: e67.
34. Xiao W, Oefner PJ: Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001; 17: 439-474. (Pubitemid 32480082)
35. De Luna N, Freixas A, Gallano P et al: Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord 2007; 17: 69-76. (Pubitemid 46186004)
36. Pramono ZA, Tan CL, Seah IA et al: Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. Hum Genet 2009; 125: 413-420.
37. Foxton RM, Laval SH, Bushby KM: Characterisation of the dysferlin skeletal muscle promoter. Eur J Hum Genet 2004; 12: 127-131. (Pubitemid 38263557)
38. Krahn M, Borges A, Navarro C et al: Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR. Genet Test Mol Biomarkers 2009; 13: 439-442.
39. Urtizberea JA, Bassez G, Leturcq F et al: Dysferlinopathies. Neurol India 2008; 56: 289-297.
40. Torella A, Trimarco A, Blanco Fdel V et al: One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing highperformance liquid chromatography. J Mol Diagn 2010; 12: 65-73.
41. Frischmeyer PA, van Hoof A, O'Donnell K et al: An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science (New York, NY) 2002; 295: 2258-2261. (Pubitemid 34258838)
42. Culbertson MR: RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 1999; 15: 74-80. (Pubitemid 29136645)
43. van Hoof A, Parker R: Messenger RNA degradation: beginning at the end. Curr Biol 2002; 12: R285-R287. (Pubitemid 34315839)
44. Maquat LE: Molecular biology. Skiing toward nonstop mRNA decay. Science (New York, NY) 2002; 295: 2221-2222. (Pubitemid 34258824)
45. Wallefeld W, Krause S, Nowak KJ et al: Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). Neuromuscul Disord 2006; 16: 541-547. (Pubitemid 44389820)
46. Angelini C, Nardetto L, Borsato C et al: The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). Neurol Res 2010; 32: 41-46.
47. Nigro V: Molecular bases of autosomal recessive limb-girdle muscular dystrophies. Acta Myol 2003; 22: 35-42. (Pubitemid 38005006)