ArticleJournal of clinical laboratory analysis2021
Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency.
Article in Journal of clinical laboratory analysis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review.Annals of hematology · 2025Review
- Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report.Journal of clinical laboratory analysis · 2023Article
- Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.Frontiers in medicine · 2023Article
- Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency.Journal of clinical laboratory analysis · 2021Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
introductionHereditary human coagulation factor VII (FVII) deficiency is an inherited autosomal recessive hemorrhagic disease involving mutations in the F7 gene. The sites and types of F7 mutations may influence the coagulation activities of plasma FVII (FVII: C) and severity of hemorrhage symptoms. However, the specific mutations that impact FVII activity are not completely known.
methodsWe tested the coagulation functions and plasma activities of FVII in seven patients recruited from six families with hereditary FVII deficiency and sequenced the F7 gene of the patients and their families. Then, we analyzed the genetic information from the six families and predicted the structures of the mutated proteins.
resultsIn this study, we detected 11 F7 mutations, including four novel mutations, in which the mutations p.Phe84Ser and p.Gly156Cys encoded the Gla and EGF domains of FVII, respectively, while the mutation p.Ser339Leu encoded the recognition site of the enzymatic protein and maintained the conformation of the catalytic domain structure. Meanwhile, the mutation in the 5' untranslated region (UTR) was closely associated with the mRNA regulatory sequence.
conclusionWe have identified novel genetic mutations and performed pedigree analysis that shed light on the pathogenesis of hereditary human coagulation FVII deficiency and may contribute to the development of treatments for this disease.
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