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.
Keywords: DMD; children; gene mutation; high-throughput Sequencing; muscle biopsy.