Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures
https://doi.org/10.15690/vsp.v15i2.1536
Abstract
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.
About the Authors
G. T. Yakhyaeva
Scientific Centre of Children’s Health, Moscow, Russian Federation
Russian Federation
Russian Federation
L. S. Namazova-Baranova
Scientific Centre of Children’s Health, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation
Pirogov Russian National Research Medical University, Moscow, Russian Federation
Russian Federation
Russian Federation
T. V. Margieva
Scientific Centre of Children’s Health, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation
Russian Federation
Russian Federation
N. V. Zhurkova
Scientific Centre of Children’s Health, Moscow, Russian Federation
Russian Federation
Russian Federation
A. A. Pushkov
Scientific Centre of Children’s Health, Moscow, Russian Federation
Russian Federation
Russian Federation
K. V. Savostyanov
Scientific Centre of Children’s Health, Moscow, Russian Federation
Russian Federation
Russian Federation
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Review
For citations:
Yakhyaeva G.T., Namazova-Baranova L.S., Margieva T.V., Zhurkova N.V., Pushkov A.A., Savostyanov K.V. Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures. Current Pediatrics. 2016;15(2):175-179. (In Russ.) https://doi.org/10.15690/vsp.v15i2.1536
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