ArticleJournal of cellular and molecular medicine2019
Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis.
Article in Journal of cellular and molecular medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- The genetics of venous thromboembolism: a systematic review of thrombophilia families.Journal of thrombosis and thrombolysis · 2021Pooled it
- A heritability-optimized method for functional prioritization of rare coding variants in complex traits.Nature genetics · 2026Article
- [Analysis of two cases of hereditary protein C deficiency causing venous thrombosis].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Molecular and clinical characterization of two independent Chinese families with protein C deficiency.Annals of hematology · 2025Article
- Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.Annals of hematology · 2024Article
- The c.1243T>C mutation in theClinical case reports · 2023Article
- [Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2022Article
- Article
- Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis.Journal of cellular and molecular medicine · 2019Article
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Authors and funding
10 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Pathogenic mutation of protein C (PROC) gene results into the deficiency of PROC activity. This study aimed to identify the pathogenic genetic variants and to explore the functional consequence in Chinese familial venous thrombosis (VTE). Whole exome sequencing was performed to identify the pathogenic variants of anticoagulant factors. Serum coagulation and anti-coagulation factors activity were assayed to evaluate the genetic association. Functional study of PROC antigen secretion deficiency was conducted in VTE subjects and in vitro cell lines. One rare pathogenic variant (p.Ala178Pro) was identified in the four VTE subjects but not in the normal subjects from the family. An inframeshift variant (rs199469469) was also identified in a paediatric subject of the pedigree. Further evaluation of serum PROC activity levels in p.Ala178Pro variants VTE carriers showed significantly lower PROC activity compared to non-carriers. Furthermore, in vitro study showed that the p.Ala178Pro mutant cells had a consistent reduction in concentration of PROC antigen. In conclusions, our study demonstrated the pathogenic variant (p.Ala178Pro) contributed to PROC type I activity deficiency, which may be due to decreased secretion of PROC.
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