DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

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.