Two desmin gene mutations associated with myofibrillar myopathies in Polish families

10.1371/journal.pone.0115470PLoS ONE912e11547

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystroph

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

10.1007/s10974-015-9431-3Journal of Muscle Research and Cell Motility366423-43

DMD gene molecular genetic characterization in Eastern Europe and non European countries

Duchenne muscular dystrophy (DMD) is a rare genetic neuromuscular disease affecting 1 in 3,500 male births world wide, due to a variety of dystrophin gene mutations. Diagnostic settings include MLPA (MRC-Holland) and NGS dystrophin gene sequencing (DMD MASTR assay Multiplicom). Thanks to the international DMD project we have tested 182 patients from eastern european and non-european countries: Poland (75), Hungary (19), Lithuania (6), Romania (55), Serbia (2), Croatia (8), Bosnia (2) Bulgaria (13) Cyprus (2) and 172 DNAs from Extra-European countries: Russia(1), Ukraina (92) and Algeria (79) were collected. In the European samples were identified 33 large del/dup (33.6%), 33 nonsense (33.6%), 17 smalldel/dup (18%), 16 splice site (16%) and 3 missense mutations (3%). In non-European patients we identified 73 large del/dup (62%), 20 nonsense (17%), 9 smalldel/dup (7.7%), 9 splice site (7.6%) and 4 missense mutations (3%). Sixty-two European patients and fifty-four Extra-European patients remained undiagnosed using routine methods, suggesting the presence of atypical mutations in the DMD gene or other genes involvement. The early identification of the underlying genetic mutation is critical to potentially affecting the course of Duchenne muscular dystrophy as well as the choice of treatment, the set up of appropriate and effective care and eligibility for clinical trials. Genetic counselling can also be offered to patients and families with important repercussions on reproductive choices and life style planning