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

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 COL...

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Autores principales: Nadyrshina, Dina, Zaripova, Aliya, Tyurin, Anton, Minniakhmetov, Ildar, Zakharova, Ekaterina, Khusainova, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774438/
https://www.ncbi.nlm.nih.gov/pubmed/35052464
http://dx.doi.org/10.3390/genes13010124
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author Nadyrshina, Dina
Zaripova, Aliya
Tyurin, Anton
Minniakhmetov, Ildar
Zakharova, Ekaterina
Khusainova, Rita
author_facet Nadyrshina, Dina
Zaripova, Aliya
Tyurin, Anton
Minniakhmetov, Ildar
Zakharova, Ekaterina
Khusainova, Rita
author_sort Nadyrshina, Dina
collection PubMed
description 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.
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spelling pubmed-87744382022-01-21 Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia) Nadyrshina, Dina Zaripova, Aliya Tyurin, Anton Minniakhmetov, Ildar Zakharova, Ekaterina Khusainova, Rita Genes (Basel) Article 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. MDPI 2022-01-10 /pmc/articles/PMC8774438/ /pubmed/35052464 http://dx.doi.org/10.3390/genes13010124 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Nadyrshina, Dina
Zaripova, Aliya
Tyurin, Anton
Minniakhmetov, Ildar
Zakharova, Ekaterina
Khusainova, Rita
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
title Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
title_full Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
title_fullStr Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
title_full_unstemmed Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
title_short Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
title_sort osteogenesis imperfecta: search for mutations in patients from the republic of bashkortostan (russia)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774438/
https://www.ncbi.nlm.nih.gov/pubmed/35052464
http://dx.doi.org/10.3390/genes13010124
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