title: DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
abstract: 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.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Ruolan
authors.initials: R
authors.lastname: Guo
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Guosheng
authors.initials: G
authors.lastname: Zhu
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Huimin
authors.initials: H
authors.lastname: Zhu
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Ruiyu
authors.initials: R
authors.lastname: Ma
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.|Hunan Jiahui Genetics Hospital, Changsha, Hunan, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.|Hunan Jiahui Genetics Hospital, Changsha, Hunan, China.
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.|Hunan Jiahui Genetics Hospital, Changsha, Hunan, China.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020388:Muscular Dystrophy, Duchenne / Q000453:epidemiology / Q000235:genetics*
chemical_list: C484258:DMD protein, human; D016189:Dystrophin