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Published on: May 7, 2020
Becker muscular dystrophy in Indian patients: analysis of dystrophin gene deletion patterns
Rashna S Dastur1, Pradnya S Gaitonde, Satish V Khadilkar
1Department of Neuropathology, Bombay Hospital, Mumbai, India.
Background:
Becker muscular dystrophy (BMD) is caused by mutations in the dystrophin gene with variable phenotypes. Becker muscular dystrophy patients have low levels of nearly full-length dystrophin and carry in-frame mutations, which allow partial functioning of the protein.
Aim:
To study the deletion patterns of BMD and to correlate the same with reading frame rule and different phenotypes.
Setting:
A tertiary care teaching hospital.
Design:
This is a prospective hospital-based study.
Materials And Methods:
Thirty-two exons spanning different "hot spot" regions using Multiplex PCR techniques were studied in 347 patients. Two hundred and twenty-two showed deletions in one or more of the 32 exons. Out of these, 46 diagnosed as BMD patients were analyzed.
Results:
Forty-six BMD patients showed deletions in both regions of the dystrophin gene. Out of these 89.1% (41/46) were in-frame deletions. Deletions starting with Exon 45 were found in 76.1% (35/46) of the cases. Mutations in the majority of cases i.e. 39/46 (84.8%) were seen in 3' downstream region (Exon 45-55, distal rod domain). Few, i.e. 5/46 (10.8%) showed deletions in 5' upstream region (Exons 3-20, N-terminus and proximal rod domain) of the gene, while in 2/46 (4.4%) large mutations (>40 bp) spanning both regions (Exons 3-55) were detected.
Conclusion:
This significant gene deletion analysis has been carried out for BMD patients particularly from Western India using 32 exons.
