Mutation Spectrum Analysis of DMD gene using MLPA method in Indonesian Duchenne and Becker muscular dystrophy patients

Background: Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are allelic disorders caused by mutations in DMD gene. The full mutation spectrum of DMD gene in Indonesian patients is currently unknown. Recently, mutation-specific therapies are being developed, such as exon skipping or stop codon read-through therapy. This study was conducted with the aim of identifying the mutation spectrum of the DMD gene in Indonesia to develop feasible therapeutic applications. Methods: Forty-three male patients with a clinical suspicion of DMD or BMD were enrolled. Multiplex Ligation-Dependent Probe Amplification (MLPA) reaction was performed to screen mutation in the DMD gene. Results: Out of 43 subjects, deletions accounted for 69.77% (30 cases), while duplications were found in 11.63% (5 cases). Three of the deletion mutations had never been reported before. The remaining 8 patients (18.60%) showed no deletion nor duplication. Out of 31 patients who were genotypically and phenotypically classified as DMD, 26 (60.46%) cases were suitable for exon skipping therapy. Conclusion: This is the first study showing the feasibility of implementing MLPA method in detecting DMD gene mutation in Indonesia. This is also the first study showing the potential application of exon skipping therapy in majority of DMD cases in the country.