Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India
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Date
2019-07
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Academy of Pediatrics
Abstract
Objective: To study the histopathological characteristics and mutation spectrum of patientspresenting with the Duchenne muscular dystrophy (DMD) phenotype. Methods: This wasa descriptive study conducted over a period of 8 years. Multiplex ligation-dependent probeamplification (MLPA) was done in patients presenting with the DMD phenotype. If MLPA wasnegative, patients were offered muscle biopsy for histopathological studies and/or nextgeneration sequencing (NGS) based multigene panel testing for muscular dystrophies.Results: Of the 510 patients included, mutation in the DMD gene was detected by MLPA in372 (72.9%), of whom 342 (67.1%) had exonic deletions and 30 (5.9%) had exonicduplications. Exons 45-55 were most commonly involved in large deletions and exons 1-10were the commonest exons involved in duplications. In the MLPA-negative cohort, 27proceeded for muscle biopsy. NGS was done in 14 patients, 10 of whom had pathogenicmutations in the DMD gene, 3 were non dystrophinopathies and no pathogenic variant couldbe 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.
Description
Keywords
Management, Operative time, Outcome.
Citation
Tallapaka Karthik, Ranganath Prajnya, Ramachandran Angalena, Uppin Megha S, Perala Sreeja, Aggarwal Shagun, Lakshmi Dhanya, Meena AK, Dalal Ashwin B. Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian Pediatrics. 2019 Jul; 56(7): 556-559