Mutational analysis among patients with Duchenne muscular dystrophy

Abstract

Background and Objective:
 Duchenne Muscular Dystrophy is caused by mutations in dystrophin gene that include deletion, duplication and small mutations. Introduction to newer drug therapies in DMD is based on the type of mutation. The objective of this study was to assess distribution and percentage of different mutations among DMD patients.
 Methods:
 This retrospective cross-sectional study was conducted in Pediatric Neurology department of UCHS & Children Hospital Lahore. All the cases of Duchenne Muscular Dystrophy confirmed through genetic analysis from January 2022 to June 2022 through MLPA method were enrolled in the study. Data was recorded on detailed history and physical examination of the subjects and all lab investigations along with genetic study was reviewed to collect the data on given Performa. All the collected data was saved for final analysis.
 Results:
 Total 60 patients were enrolled in the study. The most common mutation was deletion, detected in 32 (56%) cases, duplication was detected in 10 (17.5%) cases and genetic study of 15 (26.5 ) patients was turned out to be normal. The most common deletion was found to be at 45-52 (43%) exons.
 Conclusion:
 The most common mutation among genetically confirmed cases of DMD was found to be deletion at 45-52 exons. This mutational evaluation is the first step toward trial of new medicines while treating DMD, as mechanism of action of new drugs is based on the type of mutation.