Genetic Landscape of Dystrofin Gene Deletions and Duplications From Turkey: A Single Center Experience

Objective: Dystrophinopathies are the most frequently researched neuromuscular disease group due to their characteristic and diverse clinical genetic spectrum. This study aims evaluate deletion duplication profile of dystrophin gene in Turkey by investigating data from a tertiary center. Material Methods: Dystrophin MLPA microarray results 53 patients, 49 with dystrophinopathy 4 neurogenetic syndromic disorder pre-diagnosis, who were referred Medical Genetics Clinic Ankara City Hospital between February 2019-December 2020 retrospectively evaluated. Results: Of had various exon duplications deletions. 33 these mutations caused frame-shift (62.3%), while 20 in-frame (37.7%) changes. Fifty (94.3%) patients underwent maternal studies 14 (26.4%) de novo mutations. Mutations observed central rod domain (69.7%) followed actin-binding (7.5%) 12 frameshift mutation (36%) found be candidates for skipping treatments that still subject research. Conclusion: has shed light on incidence deletion/duplication our population revealed majority suitable which not routine use. Considering ever-growing number gene-based treatment options, population-specific types is great importance.