Extensive molecular diagnosis in genetic diseases is vital to confirm clinical diagnosis and to enable genetic counseling and personalized management. Duchenne muscular dystrophy (DMD) is a rare genetic neuromuscular disease affecting 1 in 5.000 male births worldwide, due to a variety of dystrophin gene mutations. Since 2016, PTC Therapeutics International Ltd. and the University of Ferrara, Italy, have established a collaboration focused on identifying patients affected by rare genetic disorders through increased genetic testing activities, with an initial focus on DMD. Genetic testing is available to patients throughout European countries and other regions. Diagnostic settings include MLPA (MRC-Holland) and NGS dystrophin gene sequencing (Multiplicom). Currently, DNAs from Poland (50), Hungary (17), Lituania (6), Romania (7), Russia (1), Bosnia (4), Croatia (2) Bulgaria (13) Cyprus (2), Ucraina (1) and Algeria (40) were collected for a total of 143 samples. Analyses have been completed in 125 patients. MLPA screening identified 35 samples with large deletions/duplications, while NGS analysis identified 31 nonsense, 15 small del/dup, 15 splice site and 3 missense mutations. Twenty-six (26) patients were negative for both MLPA and NGS analyses, suggesting the presence of atypical mutations. Notably, among the small mutations identified (64) about 50% are nonsense and 25% are canonical splice site mutations. The early identification of the underlying genetic mutation is critical for the standard of care including treatment choice and eligibility for clinical trials. Genetic counselling can also be offered to patients and families via a telegenetics service (www.ospfe.it/medicalgenetics).
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