Duchenne muscular dystrophy: Study of double deletions and familial cases

Journal of Pediatric Neurology

Volumn 4, Issue 2, 2006, Pages 75-82

  Khadilkar, Satish V ^a,b   Patil, Shekhar G ^a   Dastur, Rashna S ^b   Gaitonde, Pradnya S ^b   Nadkarni, Jayashree J ^b  

^a SIR J J GROUP OF HOSPITALS   (India)

^b BOMBAY HOSPITAL   (India)

Author keywords

Double deletion; Dystrophinopathy; Phenotype

Indexed keywords

DYSTROPHIN;

ADOLESCENT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DUCHENNE MUSCULAR DYSTROPHY; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE LOCATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; INDIAN; MALE; MUSCLE BIOPSY; MUSCLE CRAMP; MUTATIONAL ANALYSIS; MYALGIA; PHENOTYPIC VARIATION;

EID: 33845516722     PISSN: 13042580     EISSN: 18759041     Source Type: Journal    
DOI: None     Document Type: Article

References (41)

1. F. Muntoni, S. Torelli and A. Ferlini, Dystrophin and mutations: One gene, several proteins, multiple phenotypes, Lancet Neurol 2 (2003), 731-740.
2. C. Oudet, A. Hanauer, P. Cemens, T. Caskey and J.L. Mandel, Two hotspots of recombination in the DMD gene correlate with the deletion prone regions, Hum Mol Genet 1 (1992), 599-603.
3. A.A. El-Harouni, K.S. Amr, L.K. Effat et al., The milder phenotype of the dystrophin gene double deletions, Acta Neurol Scand 107 (2003), 400-404.
4. R.C. Hoop, L.S. Russo, D.L. Riconda, L.S. Schwartz and E.P. Hoffman, Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family, Am J Med Genet 49 (1994), 323-327.
5. N.G. Laing, M.G. Layton, R.D. Johnsen et al., Two distinct mutations in a single dystrophin gene: Chance occurrence or permutation? Am J Med Genet 42 (1992), 688-692.
6. R.J. Barlett, A.P. Walker, N.G. Laing et al., Inherited deletion at Duchenne locus in a normal male, Lancet 1 (1989), 496-497.
7. G. Miller and H.B. Wessel, Diagnosis of dystrophinopathies: Review for the clinician, Pediatr Neurol 9 (1992), 3-9.
8. M.H. Brooke, R.C. Griggs, J.R. Mendell, G.M. Fenichel, J.B. Shumate and R.J. Pellegrino, Clinical trial in Duchenne dystrophy. I. The design of the protocol, Muscle Nerve 4 (1981), 186-197.
9. M.H. Brooke, G.M. Fenichel, R.C. Griggs et al., Clinical investigations in Duchenne muscular dystrophy: 2. Determination of the 'power' of therapeutic trials based on the natural history, Muscle Nerve 6 (1983), 91-103.
10. A.H. Beggs, M. Koenig, F.M. Boyce and L.M. Kunkel, Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction, Hum Genet 86 (1990), 45-48.
11. J.S. Chamberlain, R.A. Gibbs, J.E. Ranier, P.N. Nguyen and C.T. Caskey, Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification, Nucleic Acids Res 16 (1988), 11141-11156.
12. J.S. Chamberlain, R.A. Gibbs, J.E. Ranier and C.T. Caskey, Multiplex PCR for the diagnosis of Duchenne muscular dystrophy, in: PCR Protocols: A Guide to Methods and Applications, M.A. Innis, D.H. Gelford, J.J. Sninsky and T.J. White, eds, New York: Academic Press, 1990, pp. 272-281.
13. R. Dastur, P. Gaitonde, S. Khadilkar and J. Nadkarni, Deletion analysis of the Duchenne/Becker muscular dystrophy gene using multiplex polymerase chain reaction, Ann Indian Acad Neurol 7 (2004), 333-337.
14. N.V. Khalap, V.P. Joshi, U. Ladiwalla, S.V. Khadilkar and S.K. Mahajan, A report on higher frequency of DMD gene deletion in the Indian subcontinent, Indian J Hum Genet 3 (1997), 117-120.
15. M. Banerjee and I.C. Verma, Are there ethnic differences in deletions in the dystrophin gene? Am J Med Genet 68 (1997), 152-157.
16. B. Mittal, V. Singh, S. Mishra et al., Genotype-phenotype correlation in Duchenne/Becker muscular dystrophy patients seen at Lucknow, Indian J Med Res 105 (1997), 32-38.
17. V. Sinha, S. Sinha, S. Mishra et al., Proportion and pattern of dystrophin gene deletion in north Indian Duchenne and Becker muscular patients, Hum Genet 99 (1997), 206-208.
18. S. Onengut, G.N. Kavaslar, E. Battaloglu et al., Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians, Ann Hum Genet 64 (2000), 33-40.
19. P.S. Lai, Y. Takeshima, K. Adachi et al., Comparative study on deletions of the dystrophin gene in three Asian populations, J Hum Genet 47 (2002), 552-555.
20. M.Z. Haider, L. Bastaki, Y. Habib and A. Moosa, Screening 25 dystrophin gene exons for deletions in Arab children with Duchenne muscular dystrophy, Hum Hered 48 (1998), 61-66.
21. S. Liechti-Gallati, M. Koenig, L.M. Kunkel et al., Molecular deletion patterns in Duchenne and Becker type muscular dystrophy, Hum Genet 81 (1989), 343-348.
22. L.R. Simard, F. Gingras, N. Delvoye, M. Vanasse, S.B. Melancon, and D. Labuda, Deletions in the dystrophin gene: Analysis of Duchenne and Becker muscular dystrophy patients in Quebec, Hum Genet 89 (1992), 419-424.
23. S. Hodgson, K. Hart, S. Abbs et al., Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, J Med Genet 26 (1989), 682-693.
24. N. Imoto, T. Arinami, K. Hamono et al., Topographic pattern of rearrangement of the dystrophin gene in Japanese Duchenne muscular dystrophy, Hum Genet 92 (1993), 533-536.
25. B.W. Soong, T.F. Tsai, C.H. Su, K.P. Kao, K.J. Hsiao and T.S. Su, DNA polymorphisms and deletion analysis of the Duchenne muscular dystrophy gene in the Chinese, Am J Med Genet 38 (1991), 593-600.
26. A. Mutirangura, T. Norapucsunton, S. Srivuthana et al., Multiplex PCR to detect the dystrophin gene deletion in Thai patients, J Med Assoc Thai 78 (1995), 460-465.
27. M.R. Passos-Bueno, E. Bakker, A.L. Kneppers et al., Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk, Am J Hum Genet 51 (1992), 1150-1155.
28. E. Bakker, C. Van Broeckhoven, E.J. Bonten et al., Germline mosaicism and Duchenne muscular dystrophy mutations, Nature 329 (1987), 454-456.
29. R. Medori, M.H. Brooke and R.H. Waterston, Two dissimilar brothers with Becker's dystrophy have an identical genetic defect, Neurology 39 (1989), 1493-1496.
30. J.N. Walton and D. Gardner-Medwin, Progressive muscular dystrophy and myotonic disorders, in: Disorders of Voluntary Muscle, (4th ed.), J.N. Walton, ed., Edinburgh: Churchill Livingstone, 1981, pp. 481-524.
31. M. Sifringer, B. Uhlenberg, S. Lammel et al., Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy, Hum Genet 114 (2004), 149-156.
32. M.H. Brooke, G.M. Fenichel, R.C. Griggs et al., Duchenne muscular dystrophy: Patterns of clinical progression and effects of supportive therapy, Neurology 39 (1989), 475-481.
33. M. Zatz, D. Sumita, S. Campiotto et al., Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases, Am J Med Genet 78 (1998), 361-365.
34. M. Vainzof, M.R. Passos-Bueno, R.I. Takata, R.C. Pavanello and M. Zatz, Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype, J Neurol Sci 119 (1993), 38-42.
35. M.B. Sanchez-Arjona, J.J. Rodríguez-Uranga, M. Giles-Lima et al., Spanish family with myalgia and cramps syndrome, J Neurol Neurosurg Psychiatry 76 (2005), 286-289.
36. L. Morandi, M. Mora, S. Tedeschi et al., DMD and BMD in the same family due to distinct mutations, Am J Med Genet 59 (1995), 501-505.
37. S. Sinha, S. Mishra, V. Singh, R.D. Mittal and B. Mittal, High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients, Clin Genet 50 (1996), 327-331.
38. M.A. Alcantara, M.T. Villarreal, V. Del Castillo et al., High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling, Clin Genet 55 (1999), 377-380.
39. M. Fanin, M.P. Freda, L. Vitiello, G.A. Danieli, E. Pegoraro and C. Angelini, Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size? Muscle Nerve 19 (1996), 1154-1160.
40. Y. Nevo, F. Muntoni, C. Sewry et al., Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype, Isr Med Assoc J 5 (2003), 94-97.
41. M. Ben Hamida, N. Miladi, I. Turki and H. Zaiem, Duchenne muscular dystrophy in Tunisia: A clinical and morphological study of 77 cases, J Neurol Sci 107 (1992), 60-64.