Вопросы современной педиатрии (Jun 2016)

Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures

  • G. T. Yakhyaeva,
  • L. S. Namazova-Baranova,
  • T. V. Margieva,
  • N. V. Zhurkova,
  • A. A. Pushkov,
  • K. V. Savostyanov

DOI
https://doi.org/10.15690/vsp.v15i2.1536
Journal volume & issue
Vol. 15, no. 2
pp. 175 – 179

Abstract

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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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