Key result
In a Serbian cohort of 57 DMD/BMD probands, large dystrophin gene deletions were found in 59.6% and large duplications in 10.5% of cases.
Cross-Sectional (n=63)
In a Serbian cohort of patients with dystrophinopathies, large deletions were the most common mutation (59.6%), primarily affecting the central rod domain, while large duplications occurred in 10.5%.
Supports population-specific genetic testing; extends European mutation data but leaves generalizability open.
Background/Aim. Duchenne muscular dystrophy (DMD) and its allelic form Becker muscular dystrophy (BMD) are X-linked diseases that affect males, characterized by progressive muscle and cardiopulmonary weakness, especially in DMD as a severe form of the disease. They result from mutations in the dystrophin gene, and the most common changes are large intragenic deletions and duplications (80%). One third of patients have de novo mutation and 2/3 of the mothers are estimated as carriers. The aim of the study was to analyze the frequency of duplications versus deletions in the dystrophin gene in patients with dystrophinopathies, as well as to analyze the phenotypic effect of large mutations obtained and to determine the carrier status of female relatives in probands with duplications. Methods. We examined 22 DMD and 35 BMD unrelated patients and 6 female relatives of the probands where duplications were found. We used polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) methods, according to the protocol, to detect or confirm mutations in probands and female carriers. Results. In probands, there were 34 (59.6%) large deletions (mostly affected exons 44?60) and 6 (10.5%) large duplications in 4 DMD and 2 BMD patients. Also, duplications were found in 3 out of 4 (75%) tested mothers. The distribution of duplications was heterogeneous, affecting N-terminal and central rod domain, and included more exons, except for one DMD patient who had duplication of exon 2. An exception from the Monaco rule was present in 9.5% of DMD and 15.8% of BMD probands, i.e. in 12.5% of DMD/BMD cases. Conclusion. In 57 DMD/BMD probands, we found 59.6% of large deletions and 10.5% of large duplications. The most affected region of the DMD gene was the central rod domain. An exception to Monaco''s rule was present in 12.5% of DMD/BMD cases. Three out of 4 examined proband''s mothers were confirmed as carriers.
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Maksić et al. (2018) conducted a cross-sectional in Duchenne and Becker muscular dystrophy (n=63). Dystrophin gene mutations (large deletions and duplications) was evaluated on Frequency of large deletions and duplications in the dystrophin gene. In a Serbian cohort of 57 DMD/BMD probands, large dystrophin gene deletions were found in 59.6% and large duplications in 10.5% of cases.
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