Background
Duchenne muscular dystrophy (DMD) is a neuromuscular disease of children caused by dystrophin protein deficiency encoded by dystrophin gene that is localized to the short arm of the X chromosome, position 21.1q. dystrophin gene mutation results in this disorder. Dystrophin is necessary for keeping the integrity of both skeletal and smooth muscles.
Aim
Identify mutations in the group of Egyptian DMD patients, namely exons 48, 49, and 51, and to create a genotype–phenotype correlation from analyzing these patients clinically as well as genetically.
Patients and methods
The study included 50 children, 25 DMD patients selected from the Neuropediatric Outpatient Clinic, Abo El Reesh Hospital, Cairo University, selected based on clinical, biochemical, and electromyography findings suggestive of a myopathic picture and 25 normal healthy children matched for age and sex constituted the control group, analysis was done using q-real-time PCR.
Results
About 75% (18/24) showed single-exon deletion, while 25% (6/24) showed multiple-exon deletions, of which 12.5% were double deletions and 12.5% were triple deletions, the clinical severity of the condition seems to be independent on the number of deleted exons. The most common single deletion was that of exon 48 followed by exon 51.