title: Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns.
abstract: BACKGROUND
  Becker muscular dystrophy (BMD) is caused by mutations in the dystrophin gene with variable phenotypes. Becker muscular dystrophy patients have low levels of nearly full-length dystrophin and carry in-frame mutations, which allow partial functioning of the protein.
  
  
  OBJECTIVE
  To study the deletion patterns of BMD and to correlate the same with reading frame rule and different phenotypes.
  
  
  METHODS
  A tertiary care teaching hospital.
  
  
  METHODS
  This is a prospective hospital-based study.
  
  
  METHODS
  Thirty-two exons spanning different "hot spot" regions using Multiplex PCR techniques were studied in 347 patients. Two hundred and twenty-two showed deletions in one or more of the 32 exons. Out of these, 46 diagnosed as BMD patients were analyzed.
  
  
  RESULTS
  Forty-six BMD patients showed deletions in both regions of the dystrophin gene. Out of these 89.1% (41/46) were in-frame deletions. Deletions starting with Exon 45 were found in 76.1% (35/46) of the cases. Mutations in the majority of cases i.e. 39/46 (84.8%) were seen in 3' downstream region (Exon 45-55, distal rod domain). Few, i.e. 5/46 (10.8%) showed deletions in 5' upstream region (Exons 3-20, N-terminus and proximal rod domain) of the gene, while in 2/46 (4.4%) large mutations (>40 bp) spanning both regions (Exons 3-55) were detected.
  
  
  CONCLUSIONS
  This significant gene deletion analysis has been carried out for BMD patients particularly from Western India using 32 exons.
authors.affiliation: Department of Neuropathology, Bombay Hospital, Mumbai, India.
authors.forename: Rashna S
authors.initials: RS
authors.lastname: Dastur
authors.forename: Pradnya S
authors.initials: PS
authors.lastname: Gaitonde
authors.forename: Satish V
authors.initials: SV
authors.lastname: Khadilkar
authors.forename: Jayshree J
authors.initials: JJ
authors.lastname: Nadkarni
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007194:India; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011446:Prospective Studies; D055815:Young Adult
chemical_list: D016189:Dystrophin