title: Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm.
abstract: BACKGROUND
  Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis.
  
  
  METHODS
  We analyzed 17 individuals from 2 unrelated families with a history of DMD. We used multiplex PCR, multiplex ligation-dependent probe amplification (MLPA), and short tandem-repeat (STR) segregation analysis to accurately detect and characterize the mutations and to identify the at-risk haplotype.
  
  
  RESULTS
  The selected methodology allowed for characterization of 2 single-exon out-of-frame deletions in affected patients. Nine of 13 women and a fetus were excluded from being carriers. Three recombination events were found and suggested that germline mosaicism had occurred in both families.
  
  
  CONCLUSIONS
  This methodology proved to be efficient for characterizing the disease-causing mutation in affected individuals and for assessing the carrier status in healthy relatives. These findings helped inform precise genetic counseling and contributed to characterization of the disease in the Argentine population.
authors.forename: Leonela N
authors.initials: LN
authors.lastname: Luce
authors.forename: Daniela
authors.initials: D
authors.lastname: Ottaviani
authors.forename: Marcela
authors.initials: M
authors.lastname: Ferrer
authors.forename: Irene
authors.initials: I
authors.lastname: Szijan
authors.forename: Javier
authors.initials: J
authors.lastname: Cotignola
authors.forename: Florencia
authors.initials: F
authors.lastname: Giliberto
mesh_terms: D000465:Algorithms; D001118:Argentina; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D020080:Tandem Repeat Sequences / Q000235:genetics
chemical_list: D016189:Dystrophin