DMD is a severe type of progressive muscular dystrophy, X-liked recessive, which starts in boys at age 5 and quickly worsens, the boys became non-ambulant at 8–12 years, to the age of 15 boys develop scoliosis, dilatation cardiomyopathy and respiratory insufficiency. Patients may die at the age of 20–30 years from these complications. Taking into consideration, that in Russia there is population of 150 million people, expected quantity of DMD patients should be about 4000 patients. Russian DMD Genetic registry includes data of 358 patients from all over Russia. This data was collected during last 2,5 years. Our data includes information about 343 DMD and 15 BMD boys. We still have 77 (21,5%) patients with clear DMD clinical manifestations and negative dystrophin antibodies on muscle biopsy with no genetic confirmation (they have been excluded from this analysis; we are organizing MLPA and sequencing for them). From a recent cohort of 266 patients with proved mutations in DMD gene we detected 67 patients (25,18%) with different point mutations, 43 patients (16,17%) with exon duplications and 156 patients (58,65%) with different exon deletions. In our cohort only 37 patients (13,9%) could be treated by technologies correcting point STOP-mutations. From these whole cohort of 156 patients with different exon deletions only 105 patients (39,47%) could be treated with different exon-skipping technologies. Exon skipping applicability in our cohort was: for 51 – 33 patients (12,4%), for 45 – 22 patients (8,27%), for 53 – 16 patients (6,01%), for 44 – 15 patients (5,64%), for 52 – 6 patients (2,26%), for 55 – 4 patients (1,5%), for 50 – 7 patient(2,63%), for 8 – 2 patient (0,75%), and for 43 and 17 no one. Great number of DMD patients in Russia may be of great interest to pharmaceutical companies who develops new drugs to treat dystrophinopathies.

D. Vlodavets, D. Reshetov, S. Artemieva
I. Shulyakova, O. Shidlovskaya, A. Monakhova
F. Vitrensky, D. Kazakov, E. Litvinova
E. Belousova

2017 год

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