Xie Dan, Huang Hongyan, Xu Yanming
West China School of Medicine, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):383-386. doi: 10.3760/cma.j.cn511374-20210115-00042.
To explore the genetic basis of a Chinese pedigree affected with Becker muscular dystrophy (BMD) with myalgia as the main feature.
Clinical data of the patients and results of auxiliary examinations were retrospectively analyzed. Multiplex ligation-dependent probe amplification and high-throughput sequencing were used to detect potential variants. Sanger sequencing was used to verify the results.
The clinical manifestations of the proband included myalgia and elevated serum creatine kinase, which is similar to another patient from the pedigree. Genetic testing revealed that the two patients both harbored hemizygous deletions of exons 10 to 29 of the DMD gene, for which the mother was a carrier. The same deletion was not found in his father. Based on the guidelines from American College of Medical Genetics and Genomics, the deletion was predicted to be pathogenic (PVS1+PM2+PP1).
Myalgia with elevated serum CK may be atypical clinical manifestations of BMD and may be associated with variants in the rod domain of the DMD gene. The deletion of exons 10 to 29 of the DMD gene probably underlay the BMD in this pedigree.
探讨以肌痛为主要特征的中国贝氏肌营养不良症（BMD）家系的遗传基础。
回顾性分析患者的临床资料及辅助检查结果。采用多重连接依赖探针扩增和高通量测序检测潜在变异。采用桑格测序验证结果。
先证者临床表现为肌痛和血清肌酸激酶升高，与家系中另一名患者相似。基因检测显示，两名患者均存在DMD基因第10至29外显子的半合子缺失，其母亲为携带者。在其父亲中未发现相同的缺失。根据美国医学遗传学与基因组学学会的指南，该缺失被预测为致病性的（PVS1+PM2+PP1）。
血清CK升高伴肌痛可能是BMD的非典型临床表现，可能与DMD基因杆状结构域的变异有关。DMD基因第10至29外显子的缺失可能是该家系BMD的病因。
