title: Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
abstract: Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked myopathies caused by mutations of the dystrophin gene.
  
  
  
  Multiplex ligation-dependent probe amplification (MLPA) combined with next-generation sequencing (NGS) of the exons of the dystrophin gene were performed in 92 suspected DMD/BMD patients. Patients with negative results were subjected to additional muscle diseases panel tests.
  
  
  
  DNA rearrangements were detected in 65 (70.65%) patients using MLPA. The deletions primarily clustered at exons 45-55, followed by exons 2-19. The duplication locations were in contrast to previous studies, which involved the 3' end of the gene. A total of 21 cases with point mutations were detected by NGS analysis. Furthermore, 6 previously unreported mutations were detected. Limb-girdle muscular dystrophy was confirmed in 2 patients after analysis with the muscle diseases panel.
  
  
  
  MLPA combined with NGS was effective for detection of the mutations in dystrophin gene exons. Muscle Nerve 56: 117-121, 2017.
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, China.
authors.forename: Jingzi
authors.initials: J
authors.lastname: Zhong
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, China.
authors.forename: Tiantian
authors.initials: T
authors.lastname: Xu
authors.affiliation: Department of Pathology, The First Affiliated Hospital of Guangxi Medical University, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, China.
authors.forename: Haixia
authors.initials: H
authors.lastname: Liao
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, China.
authors.forename: Jiapeng
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, China.|Team for Major Disease Prevention and Control, The First Affiliated Hospital of Guangxi Medical University, China.
authors.forename: Dan
authors.initials: D
authors.lastname: Lan
mesh_terms: D002648:Child; D002675:Child, Preschool; D019295:Computational Biology; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D016189:Dystrophin
keywords: Duchenne/Becker muscular dystrophies; MLPA; Sanger sequencing; muscle diseases panel; new mutation; next-generation sequencing