Iskandar Kristy, Dwianingsih Ery Kus, Pratiwi Linda, Kalim Alvin Santoso, Mardhiah Hasna, Putranti Alifiani H, Nurputra Dian K, Triono Agung, Herini Elisabeth S, Malueka Rusdy G, Lai Poh San
Department of Child Health/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/UGM Academic Hospital, Jl. Kabupaten (Lingkar Utara), Kronggahan, Trihanggo, Gamping, Sleman, Yogyakarta, 55291, Indonesia.
Department of Anatomical Pathology/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia.
BMC Res Notes. 2019 Oct 28;12(1):704. doi: 10.1186/s13104-019-4730-1.
Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common genetic neuromuscular disease in children, resulting from a defect in the DMD gene located on Xp21.2. The new emerging treatment using exon skipping strategy is tailored to specific mutations, thus molecular diagnostics are particularly important. This study aimed to detect the DMD gene deletion in Indonesian DMD/BMD patients and analyze the potential amenability by exon skipping therapy.
Thirty-four male patients were enrolled in this study, 23 of them (67.6%) underwent muscle biopsy and showed the absence or partially expressed dystrophin protein in immunohistochemistry staining. All patients had very high serum CK levels (10.529 ± 9.97 IU/L). Multiplex PCR revealed the DMD gene deletions in 15 (44.1%) cases. Seventy-eight percent of deletions were clustered in the hot-spot region of exon 43 to 52. Furthermore, seven (20.5%) patients were potentially amenable to exon skipping treatment. Therefore, multiplex PCR is one feasible method to detect DMD gene deletion in Indonesian DMD/BMD patients that can further determine the potential amenability of exon skipping therapy. In addition, this study is the first report of DMD gene deletion analysis in Indonesia.
杜氏/贝克氏肌营养不良症（DMD/BMD）是儿童中最常见的遗传性神经肌肉疾病，由位于Xp21.2的DMD基因缺陷引起。新出现的外显子跳跃策略治疗是针对特定突变量身定制的，因此分子诊断尤为重要。本研究旨在检测印度尼西亚DMD/BMD患者的DMD基因缺失情况，并分析外显子跳跃疗法的潜在适用性。
本研究纳入了34名男性患者，其中23名（67.6%）接受了肌肉活检，免疫组织化学染色显示肌营养不良蛋白缺失或部分表达。所有患者血清肌酸激酶（CK）水平都非常高（10529±997IU/L）。多重PCR检测发现15例（44.1%）存在DMD基因缺失。78%的缺失集中在外显子43至52的热点区域。此外，7名（20.5%）患者可能适合外显子跳跃治疗。因此，多重PCR是检测印度尼西亚DMD/BMD患者DMD基因缺失的一种可行方法，可进一步确定外显子跳跃疗法 的潜在适用性。此外，本研究是印度尼西亚DMD基因缺失分析的首次报告。
