Genetic Profile of DMD/BMD: MLPA and Sanger Sequencing Results from a Single Center

Authors : Zehra Manav Yiğit, Büşra Sapmaz, Müge Ayanoğlu

Pages : 641-649

Doi:10.35440/hutfd.1692287

View : 106 | Download : 196

Publication Date : 2025-12-25

Article Type : Research Paper

Abstract :Background: Duchenne and Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive inherited neuromuscular disease characterised by progressive muscle weakness and wasting due to variants in the DMD gene encoding dystrophin protein. This study aimed to evaluate the genetic and clinical characteristics of patients diagnosed with DMD/BMD who were found to have variants in the DMD gene by genetic analysis. Material and Methods: In this retrospective study, we evaluated 34 patients from 32 families diagnosed with dystrophinopathies, including 24 individuals (70.6%) with DMD and 10 individuals (29.4%) with BMD. Clinical, biochemical, and family history data were obtained from patient files. Genetic analyses were performed by multiple ligation-dependent probe amplification (MLPA) and Sanger sequencing. 15 mothers were segregated for carriage. Results: Exon deletion was detected in 79.4% of cases, and a small variant in 20.6%. The most common deletion sites were between exons 45-52. CK levels were found to be high in all patients. The mean age at diagnosis was 5 years. Segregation analysis showed that 12 of the mothers carried the variant detected in their children. Three new variants that had not been reported in the literature before were found in our cohort. Conclusions: Genetic analyses are valuable in diagnosis, phenotypic prediction, and family screening in DMD/BMD cases. In this study, the variant types and clinical features of DMD/BMD were analysed to contribute to the reported cases from Türkiye. Effective use of molecular diagnosis is important for early diagnosis and management.
Keywords : DMD, BMD, MLPA, Sanger dizileme, Novel varyant

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