Bastaki et al. (1999b) studied 26 Egyptian patients with Duchenne or Becker Muscular Dystrophy to observe any correlation between the size and site of dystrophin gene deletions and the clinical picture of dystrophinopathies. PCR analysis showed that 68% of the Egyptian patients had deletions in the Dystrophin gene. The most common deleted exons among the Egyptian patients were exons 19, 45, 48, and 51. No significant correlation was found between the size or site of the deletion and the clinical severity of the disease in terms of onset of walking, onset of weakness, and average IQ. The average IQ among the Egyptian patients was 90, but involvement of exons 45 and 48 were associated with IQ ranges from 85-86. This association, however, was non-significant.

[See also: Kuwait > Haider et al., 1998; Bastaki et al., 1999b].

Haider et al. (1998) used three different sets of multiplex PCRs to study dystrophin gene deletion mutations among 26 Kuwaiti and 16 Egyptian DMD patients. With the three reactions and individual amplification of exon 22, a total of 25 exons of the gene were analyzed, which included both the distal and the proximal hotspots. Combining the results of all the sets, deletions were detected in 86% of the patients, which was the highest deletion detection rate in DMD patients up until that time. No deletions could be detected in exon 44, Pm (Promoter muscle), or Pb (Promoter brain). The distal hotspot (exons 44-53) contained deletions in 50% of the cases, whereas in 8%, the proximal hostspot (exons 4-17) contained deletions. In an additional 42%, the deletions were scattered over both the regions. This result was different from previously published reports where the deletions were localized to the proximal hotspot alone. Haider et al. (1998) suggested that this pointed towards a population-specific genetic variability among DMD Arab patients.

In their study on 26 Kuwaiti patients with DMD and BMD, Bastaki et al. (1999a) analyzed Dystrophin gene deletions. Among the Kuwait patients, 68% were found to contain deletions in the Dystrophin gene. The most common deleted exons among these patients were exons 81, 45, and 48. No significant correlation was found between the size or site of the deletion and the clinical severity of the disease in terms of onset of walking, onset of weakness, and average IQ. As a continuation of this study, Bastaki et al. (1999b) performed immunohistochemical studies on the muscle biopsies of these patients. Of the 26 Kuwaiti patients, 31% were found to be dystrophin negative, while 8% were partially dystrophin negative.

[See also: Egypt > Bastaki et al., 1999b].

El-Khoury et al. 2018 described a male cohort of 52 unrelated Lebanese DMD patients with a late average age of diagnosis (7 years). They described hotspot regions of multi-exon and single-exon deletions in the dystrophin gene in 33 patients, as well as two patients with duplications. Small and point variants were not screened for. 

Bosley et al. (2016) reported the case of a 14-year-old Saudi boy suffering from both Duchenne Muscular Dystrophy (DMD) and Duane Retraction Syndrome (DRS).  The patient’s parents were not related and the patient had healthy unaffected siblings.  Symptoms of DMD included delayed speech development, mild mental retardation, progressive muscle wastage and elevated creatine kinase levels. A muscle biopsy showed significant signs of dystrophy as well as defective histological stains for dystrophin protein.  His ophthalmological symptoms included complete abduction defects and bilateral restriction of adduction with globe retraction.  The patient also had a history of seizures in infancy.  Multiplex Ligand-dependent Probe Amplification (MLPA) studies revealed the presence of duplications of exons 3 and 4 in the Dystrophin gene.  The patient’s mother was tested and found not to have these duplications, indicating germ-line mosaicism.  The authors noted that this was the third reported case worldwide of a patient suffering from both DMD and DRS and the first case involving neurological features. 

Madania et al. (2010) extracted genomic DNA from 51 unrelated Syrian DMD/BMD male patients and analyzed 25 hotspot exons in the Dystrophin gene. Madania et al. (2010) found a deletion in 25 (49%) and a duplication in 5 (10%) out of all 51 patients studied.