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Short Communication

Mutation Spectrum of Dystrophin Gene in Malaysian Patients with Duchenne/Becker Muscular Dystrophy

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Pages 11-15 | Received 26 Nov 2012, Accepted 21 Dec 2012, Published online: 26 Feb 2013

REFERENCES

  • Beggs, A. H., Koenig, M., Boyce, F. M., & Kunkel, L. M. (1990). Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet, 86, 45–48.
  • Cartegni, L., Wang, J., Zhu, Z., Zhang, M. Q., & Krainer, A. R. (2003). ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res, 31, 3568–3571.
  • Chamberlain, J. S., Gibbs, R. A., Ranier, J. E., Nguyen, P. N., & Caskey, C. T. (1988). Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res, 16, 11141–11156.
  • Cutiongco, E. M., Padilla, C. D., Takenaka, K., Yamasaki, Y., Matsuo, M., & Nishio, H. (1995). More deletions in the 5’ region than in the central region of the dystrophin gene were identified among Filipino Duchenne and Becker muscular dystrophy patients. Am J Med Genet, 59, 266–267.
  • Ginjaar, I. B., Kneppers, A. L., v d Meulen, J. D., Anderson, L. V., Bremmer-Bout, M., van Deutekom, J. C., Weegenaar, J., den Dunnen, J. T., & Bakker, E. (2000). Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Eur J Hum Genet, 8, 793–796.
  • Lai, K. K., Lo, I. F., Tong, T. M., Cheng, L. Y., & Lam, S. T. (2006). Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA). Clin Biochem, 39, 367–372.
  • Lalic, T., Vossen, R. H., Coffa, J., Schouten, J. P., Guc-Scekic, M., Radivojevic, D., Djurisic, M., Breuning, M. H., White, S. J., & den Dunnen, J. T. (2005). Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet, 13, 1231–1234.
  • Marini, M., Salmi, A. A., Watihayati, M. S., MD, S. M., Zahri, M. K., Hoh, B. P., Ankathil, R., Lai, P. S., & Zilfalil, B. A. (2008). Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy. Med J Malaysia, 63, 31–34.
  • Melis, M. A., Muntoni, F., Cau, M., Loi, D., Puddu, A., Boccone, L., Mateddu, A., Cianchetti, C., & Cao, A. (1998). Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy. Hum Mutat, 11(Suppl 1), S137–S138.
  • Muntoni, F., Gobbi, P., Sewry, C., Sherratt, T., Taylor, J., Sandhu, S. K., Abbs, S., Roberts, R., Hodgson, S. V., Bobrow, M., Dubowitz, V. (1994). Deletions in the 5’ region of dystrophin and resulting phenotypes. J Med Genet, 31, 843–847.
  • Rani, A. Q., Malueka, R. G., Sasongko, T. H., Awano, H., Lee, T., Yagi, M., Zilfalil, B. A., Salmi, A. B., Takeshima, Y., Zabidi-Hussin, Z. A., & Matsuo, M. (2011). Two closely spaced nonsense mutations in the DMD gene in a Malaysian family. Mol Genet Metab, 103, 303–304.
  • Shiga, N., Takeshima, Y., Sakamoto, H., Inoue, K., Yokota, Y., Yokoyama, M., & Matsuo, M. (1997). Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest, 100, 2204–2210.
  • Takeshima, Y., Yagi, M., Okizuka, Y., Awano, H., Zhang, Z., Yamauchi, Y., Nishio, H., & Matsuo, M. (2010). Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet, 55, 379–388.
  • Takeshima, Y., Yagi, M., Wada, H., Ishibashi, K., Nishiyama, A., Kakumoto, M., Sakaeda, T., Saura, R., Okumura, K., & Matsuo, M. (2006). Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy. Pediatr Res, 59, 690–694.
  • Thong, M. K., Bazlin, R. I., & Wong, K. T. (2005). Diagnosis and management of Duchenne muscular dystrophy in a developing country over a 10-year period. Dev Med Child Neurol, 47, 474–477.
  • van Deutekom, J. C., Janson, A. A., Ginjaar, I. B., Frankhuizen, W. S., Aartsma-Rus, A., Bremmer-Bout, M., den Dunnen, J. T., Koop, K., van der Kooi, A. J., Goemans, N. M., de Kimpe, S. J., Ekhart, P. F., Venneker, E. H., Platenburg, G. J., Verschuuren, J. J., & van Ommen, G. J. (2007). Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med, 357, 2677–2686.

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