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

Anna Cho, Moon Woo Seong, Byung Chan Lim, Hwa Jeen Lee, Jung Hye Byeon, Seung Soo Kim, Soo Yeon Kim, Sun Ah Choi, Ai Lynn Wong, Jeongho Lee, Jon Soo Kim, Hye Won Ryu, Jin Sook Lee, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Young Seung Hwang, Ki Ho Hong, Seungman ParkSung Im Cho, Seung Jun Lee, Hyunwoong Park, Soo Hyun Seo, Sung Sup Park, Jong Hee Chae

    Research output: Contribution to journalArticlepeer-review

    15 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)727-734
    Number of pages8
    JournalMuscle and Nerve
    Volume55
    Issue number5
    DOIs
    Publication statusPublished - 2017 May

    Keywords

    • Becker muscular dystrophy
    • Duchenne muscular dystrophy
    • dystrophin
    • mutation spectrum
    • point mutation

    ASJC Scopus subject areas

    • Physiology
    • Clinical Neurology
    • Cellular and Molecular Neuroscience
    • Physiology (medical)

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