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Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency
Coagulation factor VII (proconvertin) is one of the proteins starting the blood coagulation cascade. Plasma FVII concentration is regulated by different factors. A low level of FVII could also be a result of FVII deficiency (MIM# 227500), the rare autosomal recessive inherited disease caused by path...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531009/ https://www.ncbi.nlm.nih.gov/pubmed/37761907 http://dx.doi.org/10.3390/genes14091767 |
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author | Pshenichnikova, Olesya Selivanova, Daria Shchemeleva, Ekaterina Abramova, Tatiana Zozulya, Nadezhda Surin, Vadim |
author_facet | Pshenichnikova, Olesya Selivanova, Daria Shchemeleva, Ekaterina Abramova, Tatiana Zozulya, Nadezhda Surin, Vadim |
author_sort | Pshenichnikova, Olesya |
collection | PubMed |
description | Coagulation factor VII (proconvertin) is one of the proteins starting the blood coagulation cascade. Plasma FVII concentration is regulated by different factors. A low level of FVII could also be a result of FVII deficiency (MIM# 227500), the rare autosomal recessive inherited disease caused by pathogenic variants in the F7 gene. The aim of this study was to describe a mutation spectrum of the F7 gene and genotype–phenotype relationship in patients with FVII deficiency in Russia for the first time. We studied the primary structure of the F7 gene of 54 unrelated patients with FVII deficiency by direct Sanger sequencing. Pathogenic variants in the F7 gene were detected in 37 (68.5%) of them. We identified 24 different mutations located mostly in the serine protease domain. Five pathogenic variants had never been reported before. A major mutation in the Russian population was c.1391delC (p. Pro464Hisfs*32), linked with rs36209567 and rs6046 functional polymorphisms, that is widely distributed in East Europe. As in other countries, the F7 genotypes poorly correlated with the severity of clinical manifestations but were quite well associated with FVII levels. Minor alleles of functional polymorphisms rs510335, rs5742910, rs561241, rs36209567, and rs6046 could also participate in the F7 genotype and influence FVII levels. |
format | Online Article Text |
id | pubmed-10531009 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-105310092023-09-28 Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency Pshenichnikova, Olesya Selivanova, Daria Shchemeleva, Ekaterina Abramova, Tatiana Zozulya, Nadezhda Surin, Vadim Genes (Basel) Article Coagulation factor VII (proconvertin) is one of the proteins starting the blood coagulation cascade. Plasma FVII concentration is regulated by different factors. A low level of FVII could also be a result of FVII deficiency (MIM# 227500), the rare autosomal recessive inherited disease caused by pathogenic variants in the F7 gene. The aim of this study was to describe a mutation spectrum of the F7 gene and genotype–phenotype relationship in patients with FVII deficiency in Russia for the first time. We studied the primary structure of the F7 gene of 54 unrelated patients with FVII deficiency by direct Sanger sequencing. Pathogenic variants in the F7 gene were detected in 37 (68.5%) of them. We identified 24 different mutations located mostly in the serine protease domain. Five pathogenic variants had never been reported before. A major mutation in the Russian population was c.1391delC (p. Pro464Hisfs*32), linked with rs36209567 and rs6046 functional polymorphisms, that is widely distributed in East Europe. As in other countries, the F7 genotypes poorly correlated with the severity of clinical manifestations but were quite well associated with FVII levels. Minor alleles of functional polymorphisms rs510335, rs5742910, rs561241, rs36209567, and rs6046 could also participate in the F7 genotype and influence FVII levels. MDPI 2023-09-06 /pmc/articles/PMC10531009/ /pubmed/37761907 http://dx.doi.org/10.3390/genes14091767 Text en © 2023 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 Pshenichnikova, Olesya Selivanova, Daria Shchemeleva, Ekaterina Abramova, Tatiana Zozulya, Nadezhda Surin, Vadim Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency |
title | Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency |
title_full | Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency |
title_fullStr | Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency |
title_full_unstemmed | Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency |
title_short | Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency |
title_sort | molecular genetic analysis of russian patients with coagulation factor fvii deficiency |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531009/ https://www.ncbi.nlm.nih.gov/pubmed/37761907 http://dx.doi.org/10.3390/genes14091767 |
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