DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

J Hum Genet. 2015 Aug;60(8):435-42. doi: 10.1038/jhg.2015.43. Epub 2015 May 14.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian Continental Ancestry Group / genetics*
  • Child, Preschool
  • China / epidemiology
  • Cohort Studies
  • DNA Mutational Analysis
  • Dystrophin / genetics*
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Multiplex Polymerase Chain Reaction
  • Muscular Dystrophy, Duchenne / epidemiology
  • Muscular Dystrophy, Duchenne / genetics*


  • DMD protein, human
  • Dystrophin