Key result
The rare pathogenic variant p.Ala178Pro in the PROC gene was associated with significantly lower PROC activity and decreased secretion of PROC antigen in carriers with familial venous thrombosis.
Why the study?
Pathogenic mutation of the PROC gene results in PROC activity deficiency, but specific pathogenic variants and functional consequences in Chinese familial VTE needed identification.
Population
Members of a Chinese family with venous thrombosis, including four VTE subjects
Comparison
VTE subjects with variants vs normal family members/non-carriers
Design
Familial genetic and functional study
Authors
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Supports PROC variant screening in familial thrombosis families; hypothesis-generating without immediate practice implications.
Observational
The p.Ala178Pro variant in the PROC gene causes type I protein C deficiency through decreased secretion, contributing to familial venous thrombosis.
Yue et al. (2019) conducted an observational in Familial venous thrombosis (VTE). PROC gene pathogenic variant (p.Ala178Pro) vs. Non-carriers / normal subjects from the family was evaluated on PROC activity and antigen concentration. The rare pathogenic variant p.Ala178Pro in the PROC gene was associated with significantly lower PROC activity and decreased secretion of PROC antigen in carriers with familial venous thrombosis.
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