Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

被引:1
|
作者
Lee, Jung Hwan [1 ,2 ]
Park, Hyung Jun [2 ]
Seong, Moon-Woo [3 ]
Park, Sung Sup [3 ]
Choi, Young-Chul [2 ]
机构
[1] Catholic Univ Korea, Seoul St Marys Hosp, Coll Med, Dept Neurol, Seoul, South Korea
[2] Yonsei Univ, Coll Med, Dept Neurol, Seoul, South Korea
[3] Seoul Natl Univ Hosp, Dept Lab Med, Seoul, South Korea
关键词
Facioscapulohumeral muscular dystrophy; high-throughput nucleotide sequencing; DNA methylation; SMCHD1;
D O I
10.3349/ymj.2021.62.1.95
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed; this disease entity is called FSHD2. FSHD2 is characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array D4Z4. In Korea, there have been no previous reports of FSHD2. We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, genetic analysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.
引用
收藏
页码:95 / 98
页数:4
相关论文
共 50 条
  • [21] Facioscapulohumeral muscular dystrophy (FSHD)
    van der Maarel, S. M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2017, 24 : 5 - 5
  • [22] Dysphagia in facioscapulohumeral muscular dystrophy
    Wohlgemuth, MI
    de Swart, BJM
    Kalf, JG
    Joosten, FBM
    van der Vliet, AM
    Padberg, GW
    NEUROLOGY, 2006, 66 (05) : A365 - A365
  • [23] Dysphagia in facioscapulohumeral muscular dystrophy
    Wohlgemuth, Marielle
    de Bert, Swart
    Kalf, Johanna
    Joosten, Frank
    van der Antonius, Vliet
    Padberg, George
    NEUROMUSCULAR DISORDERS, 2006, 16 : S70 - S70
  • [24] About facioscapulohumeral muscular dystrophy
    Karceski, Steven
    NEUROLOGY, 2015, 85 (04) : E43 - E43
  • [25] Dysphagia in facioscapulohumeral muscular dystrophy
    Wohlgemuth, M.
    de Swart, B. J. M.
    Kalf, J. G.
    Joosten, F. B. M.
    Van der Vliet, A. M.
    Padberg, G. W.
    NEUROLOGY, 2006, 66 (12) : 1926 - 1928
  • [26] Facioscapulohumeral muscular dystrophy in Romania
    Coprean, D
    Popescu, M
    Militaru, M
    Bosca, B
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 260 - 260
  • [27] GENETICS OF FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - NEW MUTATIONS IN SPORADIC CASES
    GRIGGS, RC
    TAWIL, R
    STORVICK, D
    MENDELL, JR
    ALTHERR, MR
    NEUROLOGY, 1993, 43 (11) : 2369 - 2372
  • [28] A MULTIDISCIPLINARY CLINICAL APPROACH TO FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY ORTHOPEDIC SURGERY IN FACIOSCAPULOHUMERAL DYSTROPHY
    Cakmak, Ozgor Oztop
    Eren, Ilker
    Aslanger, Ayca
    Gunerbuyuk, Caner
    Kayserili, Hulya
    Oflazer, Piraye
    Sar, Cuneyt
    Demirhan, Mehmet
    Gursoy-Ozdemir, Yasemin
    IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE, 2018, 71 (9-10): : 337 - 342
  • [29] Management strategies in facioscapulohumeral muscular dystrophy
    Lu, Junren
    Yao, Zhenjun
    Yang, Yi
    Zhang, Chi
    Zhang, Jian
    Zhang, Ying
    INTRACTABLE & RARE DISEASES RESEARCH, 2019, 8 (01) : 9 - 13
  • [30] Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy
    Reed, P
    Porter, N
    Strong, J
    Flanigan, KM
    Luther, P
    Kuncl, R
    Bloch, RJ
    NEUROMUSCULAR DISORDERS, 2001, 11 (6-7) : 633 - 633