Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures
| Autor: | G. T. Yakhyaeva, L. S. Namazova-Baranova, T. V. Margieva, N. V. Zhurkova, A. A. Pushkov, K. V. Savostyanov |
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| Jazyk: | English<br />Russian |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Вопросы современной педиатрии, Vol 15, Iss 2, Pp 175-179 (2016) |
| Druh dokumentu: | article |
| ISSN: | 1682-5527 1682-5535 |
| DOI: | 10.15690/vsp.v15i2.1536 |
| Popis: | Frequent bone fractures in infancy require the elimination of a large number (> 100) of genetic disorders. The modern diagnostic method of hereditary diseases characterized by debilitating course is a new generation sequencing. The article presents the results of molecular-genetic study conducted in 18 patients with clinical symptoms of connective tissue disorders. 10 (56%) patients had mutations in the genes encoding type I collagen chains, leading to the development of osteogenesis imperfecta, 5 (28%) — mutations in IV and V type collagen genes that are responsible for the development of Ehlers-Danlos syndrome. 3 (17%) patients had mutations in the gene encoding fibrillin-1 protein, deficiency of which is manifested by Marfan syndrome. However, the correlation between patient's phenotype and discovered mutations in the investigated gene is established not in all cases. |
| Databáze: | Directory of Open Access Journals |
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