Anna Cho1,2, Moon-Woo Seong3, Byung Chan Lim1, Hwa Jeen Lee3, Jung Hye Byeon1,4, Seung Soo Kim1,5, Soo Yeon Kim1, Sun Ah Choi1, Ai-Lynn Wong1, Jeongho Lee1,6, Jon Soo Kim1,7, Hye Won Ryu1, Jin Sook Lee1,8, Hunmin Kim1,9, Hee Hwang1,9, Ji Eun Choi1,10, Ki Joong Kim1, Young Seung Hwang1, Ki Ho Hong11, Seungman Park12, Sung Im Cho3, Seung Jun Lee3, Hyunwoong Park13, Soo Hyun Seo3, Sung Sup Park3, Jong Hee Chae1. 1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. 2. Department of Pediatrics, Ewha Womans University School of Medicine, Seoul, Korea. 3. Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Korea. 4. Department of Pediatrics, Korea University College of Medicine, Seoul, Korea. 5. Department of Pediatrics, Soonchunhyang University Cheonan Hospital, Chungcheongnam-do, Korea. 6. Department of Pediatrics, Soonchunhyang University Seoul Hospital, Seoul, Korea. 7. Department of Pediatrics, Daejeon Eulji University Hospital, Daejeon, Korea. 8. Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea. 9. Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do, Korea. 10. Department of Pediatrics, Seoul National University Boramae Medical Center, Seoul, Korea. 11. Department of Laboratory Medicine, Seoul Medical Center, Seoul, Korea. 12. Green Cross Laboratories, Yongin, Korea. 13. Department of Laboratory Medicine, Gyeongsang National University Hospital, Gyeongsangnam-do, Korea.
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. Muscle Nerve 55: 727-734, 2017.
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/BMDpatients 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. Muscle Nerve 55: 727-734, 2017.