Abstract
Objective
To study the histopathological characteristics and mutation spectrum of patients presenting with the Duchenne muscular dystrophy (DMD) phenotype.
Methods
This was a descriptive study conducted over a period of 8 years. Multiplex ligation-dependent probe amplification (MLPA) was done in patients presenting with the DMD phenotype. If MLPA was negative, patients were offered muscle biopsy for histopathological studies and/or next generation sequencing (NGS) based multigene panel testing for muscular dystrophies.
Results
Of the 510 patients included, mutation in the DMD gene was detected by MLPA in 372 (72.9%), of whom 342 (67.1%) had exonic deletions and 30 (5.9%) had exonic duplications. Exons 45–55 were most commonly involved in large deletions and exons 1–10 were the commonest exons involved in duplications. In the MLPA-negative cohort, 27 proceeded for muscle biopsy. NGS was done in 14 patients, 10 of whom had pathogenic mutations in the DMD gene, 3 were non dystrophinopathies and no pathogenic variant could be identified in one patient.
Conclusions
For patients presenting with the DMD phenotype, MLPA of the DMD gene has a high diagnostic rate of about 73%, and non-dystrophinopathies may constitute a small but significant proportion.
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Acknowledgements
MedGenome Labs Private Ltd., Bengaluru, India for performing next generation sequencing-based molecular genetic studies.
Funding
Funding: None; Competing interests: None stated.
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Tallapaka, K., Ranganath, P., Ramachandran, A. et al. Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian Pediatr 56, 556–559 (2019). https://doi.org/10.1007/s13312-019-1553-z
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DOI: https://doi.org/10.1007/s13312-019-1553-z