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.


OBJECTIVE
To study the deletion patterns of BMD and to correlate the same with reading frame rule and different phenotypes.


METHODS
A tertiary care teaching hospital.


METHODS
This is a prospective hospital-based study.


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.


CONCLUSIONS
This significant gene deletion analysis has been carried out for BMD patients particularly from Western India using 32 exons.
Dastur
Rashna S
RS
Department of Neuropathology, Bombay Hospital, Mumbai, India.
Gaitonde
Pradnya S
PS
Khadilkar
Satish V
SV
Nadkarni
Jayshree J
JJ
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007194:India; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011446:Prospective Studies; D055815:Young Adult
D016189:Dystrophin