Background: Duchenne Muscular Dystrophy (DMD) the most common muscular dystrophy affecting mainly males, is caused by mutation of DMD (dystrophin) gene. The present study aimed at reporting the phenotypic and mutation spectrum of clinically suspected DMD children by molecular testing from the tertiary hospital, Delhi.
Methods: In this retrospective study, molecular testing was done in 73 clinically suspected DMD patients to identify DMD deletions, duplication or point mutation.
Results: Among 73 clinically suspected DMD patients confirmed by genetic testing, DMD gene deletion was present in 79.45 %, duplication in 1.3% and point mutation in 19.17 % cases. In 89.6 % of patients, deletion was located at distal hot spot region. Single exon deletion was found in 18.9 %. Distal hotspot exons 44, 45 and 52 were the commonly deleted exons.
Conclusions: Positive results by genetic testing prove to be investigation of choice for definitive diagnosis, to offer genetic counseling and prenatal diagnosis and it also helps in further discovery of mutation specific therapeutic interventions.
Key words: Duchenne muscular dystrophy, dystrophin, deletion.
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