Jiang Jingjing, Jiang Tiejia, Xu Jialu, Shen Jue, Gao Feng
a Children's Hospital of Zhejiang University School of Medicine , Hangzhou , P. R. China.
Fetal Pediatr Pathol. 2018 Feb;37(1):1-6. doi: 10.1080/15513815.2017.1369201. Epub 2018 Jan 16.
Duchenne muscular dystrophy (DMD) is an X-linked autosomal recessive genetic disorder caused by mutations in DMD gene. Approximately 70% of the mutations are caused by deletions or duplications of DMD exons, while the remaining were minor mutations.
We present a 5-year-old boy with typical clinical features of DMD. A novel mutation was identified as a c.9358_9359insA of DMD gene by next-generation sequencing. This mutation which was origined from mother, generated a frameshift mutation and resulted in abnormal synthesis of protein polypeptide chains.
We demonstrated a novel mutation of DMD gene and expanded the spectrum of mutations causing DMD.
杜氏肌营养不良症（DMD）是一种由DMD基因突变引起的X连锁常染色体隐性遗传病。大约70%的突变是由DMD外显子的缺失或重复引起的，其余为微小突变。
我们报告一名具有典型DMD临床特征的5岁男孩。通过下一代测序鉴定出一种新的突变，为DMD基因的c.9358_9359insA。该突变源自母亲，产生了移码突变，导致蛋白质多肽链合成异常。
我们证实了DMD基因的一种新突变，并扩展了导致DMD的突变谱。
