Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures
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...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
"Paediatrician" Publishers LLC,
2016-06-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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. |
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| Item Description: | 1682-5527 1682-5535 10.15690/vsp.v15i2.1536 |