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Article

Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

by
Dina Nadyrshina
1,2,*,
Aliya Zaripova
1,3,
Anton Tyurin
4,
Ildar Minniakhmetov
1,3,4,
Ekaterina Zakharova
5 and
Rita Khusainova
1,3,4
1
Institute of Biochemistry and Genetics—Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia
2
Departament of Genetics and Fundamental Medicine, Bashkir State University, 450076 Ufa, Russia
3
Republican Medical Genetics Centre, 450076 Ufa, Russia
4
Internal Medicine Department, Bashkir State Medical University, 450008 Ufa, Russia
5
Research Centre for Medical Genetics, 115478 Moscow, Russia
*
Author to whom correspondence should be addressed.
Genes 2022, 13(1), 124; https://doi.org/10.3390/genes13010124
Submission received: 10 December 2021 / Revised: 30 December 2021 / Accepted: 1 January 2022 / Published: 10 January 2022
(This article belongs to the Special Issue Genetic Disorders of Bone)
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Abstract

Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not previously reported in literature. We found mutations in CLCN7, ALOX12B, PLEKHM1, ERCC4, ARSB, PTH1R, and TGFB1 that were not associated with OI pathogenesis in patients with increased bone fragility. Additionally, we found combined mutations (c.2869C>T, p. Gln957* in COL1A1 and c.1197+5G>A in COL1A2; c.579delT, p. Gly194fs in COL1A1 and c.1197+5G>A in COL1A2; c.2971G>C, p. Gly991Arg in COL1A2 and c.212G>C, p.Ser71Thr in FGF23; c.-14C>T in IFITM5 and c.1903C>T, p. Arg635* in LAMB3) in 4 patients with typical OI clinic phenotypes.
Keywords: next-generation sequencing (NGS); I type of collagen; metabolic bone disease next-generation sequencing (NGS); I type of collagen; metabolic bone disease

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MDPI and ACS Style

Nadyrshina, D.; Zaripova, A.; Tyurin, A.; Minniakhmetov, I.; Zakharova, E.; Khusainova, R. Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia). Genes 2022, 13, 124. https://doi.org/10.3390/genes13010124

AMA Style

Nadyrshina D, Zaripova A, Tyurin A, Minniakhmetov I, Zakharova E, Khusainova R. Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia). Genes. 2022; 13(1):124. https://doi.org/10.3390/genes13010124

Chicago/Turabian Style

Nadyrshina, Dina, Aliya Zaripova, Anton Tyurin, Ildar Minniakhmetov, Ekaterina Zakharova, and Rita Khusainova. 2022. "Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)" Genes 13, no. 1: 124. https://doi.org/10.3390/genes13010124

APA Style

Nadyrshina, D., Zaripova, A., Tyurin, A., Minniakhmetov, I., Zakharova, E., & Khusainova, R. (2022). Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia). Genes, 13(1), 124. https://doi.org/10.3390/genes13010124

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