June 4, 2024Open Access

Molecular and clinical characterization of two independent Chinese families with protein C deficiency

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MWMengzhen WenWenzhou Medical University YLYifan LuBeijing Obstetrics and Gynecology Hospital HXHaixiao XieWenzhou Medical University

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Implication

Genetic analysis reveals pathogenic PROC mutations and reduced thrombin generation in two Chinese families, highlighting mechanisms of hereditary protein C deficiency.

Key Points

Two PROC gene missense mutations cause hereditary protein C deficiency, presenting with bilateral deep vein thrombosis and pulmonary embolism in two unrelated Chinese probands.
Both probands aged 39 and 63 exhibited impaired thrombin generation capacity on calibrated automated thrombogram, with proband B demonstrating more severe impairment.
Direct sequencing of PROC gene exons and protein modeling uncovered structural disruptions, highlighting the novel p.Trp444Arg mutation as a likely driver of thrombosis.

Cite This Study

Wen et al. (2024) studied this question.

synapsesocial.com/papers/68e664bab6db6435875f158c https://doi.org/10.21203/rs.3.rs-4372666/v1

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Implication

Genetic analysis reveals pathogenic PROC mutations and reduced thrombin generation in two Chinese families, highlighting mechanisms of hereditary protein C deficiency.

Molecular and clinical characterization of two independent Chinese families with protein C deficiency

Discussion

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Implication

Key Points

Cite This Study

Molecular and clinical characterization of two independent Chinese families with protein C deficiency

Discussion

Member takes

Implication

Key Points

Cite This Study

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