Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
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.



We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing.



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.



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.
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Ewha Womans University School of Medicine, Seoul, Korea.
Anna
A
Cho
Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Korea.
Moon-Woo
MW
Seong
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Byung Chan
BC
Lim
Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Korea.
Hwa Jeen
HJ
Lee
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
Jung Hye
JH
Byeon
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Soonchunhyang University Cheonan Hospital, Chungcheongnam-do, Korea.
Seung Soo
SS
Kim
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Soo Yeon
SY
Kim
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Sun Ah
SA
Choi
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Ai-Lynn
AL
Wong
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Soonchunhyang University Seoul Hospital, Seoul, Korea.
Jeongho
J
Lee
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Daejeon Eulji University Hospital, Daejeon, Korea.
Jon Soo
JS
Kim
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Hye Won
HW
Ryu
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.
Jin Sook
JS
Lee
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do, Korea.
Hunmin
H
Kim
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Seoul National University Bundang Hospital, Gyeonggi-do, Korea.
Hee
H
Hwang
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.|Department of Pediatrics, Seoul National University Boramae Medical Center, Seoul, Korea.
Ji Eun
JE
Choi
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Ki Joong
KJ
Kim
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Young Seung
YS
Hwang
Department of Laboratory Medicine, Seoul Medical Center, Seoul, Korea.
Ki Ho
KH
Hong
Green Cross Laboratories, Yongin, Korea.
Seungman
S
Park
Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Korea.
Sung Im
SI
Cho
Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Korea.
Seung Jun
SJ
Lee
Department of Laboratory Medicine, Gyeongsang National University Hospital, Gyeongsangnam-do, Korea.
Hyunwoong
H
Park
Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Korea.
Soo Hyun
SH
Seo
Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-744, Korea.
Sung Sup
SS
Park
Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
Jong Hee
JH
Chae
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D056910:Republic of Korea; D017384:Sequence Deletion; D055815:Young Adult
D016189:Dystrophin
Becker muscular dystrophy; Duchenne muscular dystrophy; dystrophin; mutation spectrum; point mutation