DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
复制标题
613例中国肌营养不良症患者DMD突变谱分析
DOI：
10.1038/jhg.2015.43
复制
发表时间：
2015-08-01
影响因子：
3.5
通讯作者：
Wu, Lingqian
中科院分区：
文献类型：
--
作者：
Guo, Ruolan;Zhu, Guosheng;Wu, Lingqian
Dystrophinopathy is a group of inherited diseases caused by mutations in the DMD gene. Within the dystrophinopathy spectrum, Duchenne and Becker muscular dystrophies are common X-linked recessive disorders that mainly feature striated muscle necrosis. We combined multiplex ligation-dependent probe amplification with Sanger sequencing to detect large deletions/duplications and point mutations in the DMD gene in 613 Chinese patients. A total of 571 (93.1%) patients were diagnosed, including 428 (69.8%) with large deletions/duplications and 143 (23.3%) with point mutations. Deletion/duplication breakpoints gathered mostly in introns 44-55. Reading frame rules could explain 88.6% of deletion mutations. We identified seventy novel point mutations that had not been previously reported. Spectrum expansion and genotype-phenotype analysis of DMD mutations on such a large sample size in Han Chinese population would provide new insights into the pathogenic mechanism underlying dystrophinopathies.
