Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India

Tallapaka, Karthik; Ranganath, Prajnya; Ramachandran, Angalena; Uppin, Megha S; Perala, Sreeja; Aggarwal, Shagun; Lakshmi, Dhanya; Meena, AK; Dalal, Ashwin B

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.

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