[Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy]

To detect genetic causes of Duchenne muscular dystrophy (DMD).Next-generation sequencing was used to detect 6 DMD patients in whom no exonic deletions were detected by multiplex PCR. Sanger sequencing and multiplex ligation-dependent probe amplification were used to confirm the results.One case was found to have deletions of exons 10 and 11, 1 had exons 16 and 17 duplication, 4 cases have 8 point mutations including c.2776CT, c.5475delA, c.6391_6392delCA, IVS64+1GA, c.2645AG, c.5244GA, c.7728TC, c.8729AT, c.8734AG and c.8810GA. The former 4 mutations are suspicious pathogenicity, the other 6 mutations are polymorphisms in population. Three novel mutations (IVS64+1GA, c.6391_6392delCA (p.Q2131NfsX3) and p.Q926X (CAGTAG) were not reported before.Next-generation sequencing technology is a useful tool for the detection of deletion, duplication and point mutation, which is valuable for clinical application.