Park Hyung Jun, Hong Ji-Man, Lee Jung Hwan, Lee Hyung Seok, Shin Ha Young, Kim Seung Min, Ki Chang-Seok, Lee Ji Hyun, Choi Young-Chul
Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Republic of Korea; Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Neuromuscul Disord. 2015 Nov;25(11):859-64. doi: 10.1016/j.nmd.2015.08.004. Epub 2015 Aug 11.
The objective of this study was to investigate the clinical and genetic features of Korean patients with facioscapulohumeral muscular dystrophy type 1 (FSHD), and assessed the impact of molecular defects on phenotypic expression. We enrolled 104 FSHD patients from 87 unrelated Korean families with D4Z4 repeat array of less than 11 copies on 4q35. Sixty-one men and forty-three women were enrolled. Median D4Z4 copy number was 4 units and 99 (95%) Korean patients with FSHD carried 1-6 units. The median age at symptom onset was 13 [interquartile range: 8-17] years old. In 100 symptomatic patients, muscle weakness began in facial muscles in 58 patients, shoulder-girdle muscles in 37, and pelvic-girdle muscles in 5. Disease severity was significantly correlated with D4Z4 copy number. In addition, women were more severely affected than men even though there were no differences in age at examination or in D4Z4 copy number between the two genders. This gender difference among Korean patients was the opposite of analysis on individuals of European ancestry. In conclusion, the present study demonstrated the new diagnostic threshold for FSHD in Koreans based on the D4Z4 repeat array size distribution from 1 to 6 units and expanded the clinical spectrum.
本研究的目的是调查韩国1型面肩肱型肌营养不良症（FSHD）患者的临床和遗传特征，并评估分子缺陷对表型表达的影响。我们从87个无关的韩国家庭中招募了104例FSHD患者，这些患者在4q35上的D4Z4重复序列阵列少于11个拷贝。其中61名男性和43名女性被纳入研究。D4Z4拷贝数中位数为4个单位，99名（95%）韩国FSHD患者携带1 - 6个单位。症状出现的中位年龄为13岁[四分位间距：8 - 17岁]。在100例有症状的患者中，58例患者的肌肉无力始于面部肌肉，37例始于肩胛带肌肉，5例始于骨盆带肌肉。疾病严重程度与D4Z4拷贝数显著相关。此外，尽管两性在检查年龄或D4Z4拷贝数上没有差异，但女性受影响比男性更严重。韩国患者中的这种性别差异与对欧洲血统个体的分析结果相反。总之，本研究基于1至6个单位的D4Z4重复序列阵列大小分布，证明了韩国人FSHD的新诊断阈值，并扩大了临床谱。
