title: [Mutation analysis of 81 cases with Duchenne/Becker muscular dystrophy].
abstract: OBJECTIVE
  To perform mutation analysis for 81 unrelated patients with Duchenne/Becker muscular dystrophy (DMD/BMD) from Henan Province.
  
  
  METHODS
  Multiplex ligation-dependent probe amplification (MLPA) was used to detect potential deletion/duplications of the DMD gene. Those with single exon deletions were validated with PCR amplification and Sanger sequencing to rule out false positive results. Patients with negative MLPA results were further analyzed with next-generation sequencing (NGS), and the result was validated by Sanger sequencing.
  
  
  RESULTS
  DMD gene deletion/duplications were detected in 67 cases by MLPA, and exons 45-54 was the most frequently deleted. The phenotypes of 79.1% patients with a deletion or duplication has conformed to the reading frame rule. In addition, 13 mutations were detected by NGS and Sanger sequencing, which included 6 novel mutations including one frameshift mutation c.4708-4709insTG and 5 nonsense mutations (c.8812G>T, c.2131A>T, c.6035T>A, c.3426C>A, and c.3055C>T).
  
  
  CONCLUSIONS
  This results have enriched the DMD gene mutation database. Combined MLPA, NGS and Sanger sequencing can greatly enhance the sensibility and specificity of genetic testing for the DMD/BMD.
authors.affiliation: Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
authors.forename: Shuang
authors.initials: S
authors.lastname: Li
authors.forename: Ying
authors.initials: Y
authors.lastname: Bai
authors.forename: Zhenhua
authors.initials: Z
authors.lastname: Zhao
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Kong
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D055815:Young Adult