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Spectrum and frequency of pathogenic changes in patients with incomplete osteogenesis from the Republic of Bashkortostan
https://doi.org/10.25557/2073-7998.2022.09.41-44
Abstract
In our study, we searched for pathogenic changes in target genes in 62 patients with osteogenesis imperfecta from 52 families from the Republic of Bashkortostan using NGS technology. The study revealed 29 mutations in 4 genes (COL1A1, COL1A2, IFITM5, P3H1) responsible for the development of OI in 42 patients from 32 families. Additionally, heterozygous mutations in the CLCN7, ALOX12B, PLEKHM1, ERCC4, ARSB, PTH1R, and TGFB1 genes were found in 7 patients with low-traumatic fractures that are not involved in the pathogenesis of OI.
About the Authors
A. . Zaripova
Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences
Russian Federation
Russian Federation
D. . Nadyrshina
Bashkir State University
Russian Federation
Russian Federation
R. . Khusainova
Institute of Biochemistry and Genetics - Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences; Bashkir State University
Russian Federation
Russian Federation
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Review
For citations:
Zaripova A., Nadyrshina D., Khusainova R. Spectrum and frequency of pathogenic changes in patients with incomplete osteogenesis from the Republic of Bashkortostan. Medical Genetics. 2022;21(9):41-44. (In Russ.) https://doi.org/10.25557/2073-7998.2022.09.41-44
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