Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center
- Abstract
- Introduction: Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene.
Methods: We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing.
Results: Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified. Deletions and duplications accounted for 65.4% and 13.3% of Korean dystrophinopathy, respectively, suggesting that the incidence of large rearrangements in dystrophin is similar among different ethnic groups. We also detected sequence variations in >100 probands. The small variations were dispersed across the whole gene, and 12.3% were nonsense mutations.
Conclusions: Precise genetic characterization in patients with DMD/BMD is timely and important for implementing nationwide registration systems and future molecular therapeutic trials in Korea and globally.
- All Author(s)
- A. Cho
; M. W. Seong
; B. C. Lim
; H. J. Lee
; J. H. Byeon
; S. S. Kim
; S. Y. Kim
; S. A. Choi
; A. L. Wong
; J. Lee
; J. S. Kim
; H. W. Ryu
; J. S. Lee
; H. Kim
; H. Hwang
; J. E. Choi
; K. J. Kim
; Y. S. Hwang
; K. H. Hong
; S. Park
; S. I. Cho
; S. J. Lee
; H. Park
; S. H. Seo
; S. S. Park
; J. H. Chae
- Issued Date
- 2017
- Type
- Article
- Keyword
- Becker muscular dystrophy; Duchenne muscular dystrophy; dystrophin; mutation spectrum; point mutation
- Publisher
- American Association of Electromyography and Electrodiagnosis
American Association of Electrodiagnostic Medicine
American Association of Neuromuscular and Electrodiagnostic Medicine
Muscular Dystrophy Association
- ISSN
- 0148-639x
; 1097-4598
- Citation Title
- Muscle & nerve
- Citation Volume
- 55
- Citation Number
- 5
- Citation Start Page
- 727
- Citation End Page
- 734
- Language(ISO)
- eng
- DOI
- 10.1002/mus.25396
- URI
- http://schca-ir.schmc.ac.kr/handle/2022.oak/2488
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