7 research outputs found
Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns
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
Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation
The application of molecular diagnostic techniques has greatly improved
the diagnosis, carrier detection, prenatal testing and genetic
counseling for families with Duchenne and Becker muscular dystrophy
(D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD)
patients to have out-framed deletions and Becker′s muscular
dystrophy (BMD) patients to have in-frame deletions of dystrophin gene
holds well in the vast majority of cases. Mutation detection is
obviously critical for diagnosis but it may also be important for
future therapeutic purposes. These factors underscore the need for
earlier referral, genetic counseling and provision of support and
rehabilitation services which are the main priorities for psychosocial
assessment and intervention at medical and social levels