Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy

作者：Jiang, Jingjing; Jiang, Tiejia; Xu, Jialu; Shen, Jue; Gao, Feng^*

来源：Fetal and Pediatric Pathology, 2018, 37(1): 1-6.

DOI：10.1080/15513815.2017.1369201

• DMD
• children
• gene mutation
• high-throughput Sequencing
• muscle biopsy

Introduction: 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. Case report: 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. Conclusion: We demonstrated a novel mutation of DMD gene and expanded the spectrum of mutations causing DMD.

• 出版日期2018
• 单位浙江大学