Evidence map›Paper›PMID 42343414›Full record

ArticleThrombosis journal2026

Cerebral venous sinus thrombosis in a family with protein S deficiency: genetic analysis and phenotypic characterization.

Fengjiao Wang, Ling You, Xiaoli Chen, Fei Xu, Qiyu Xu, Mingshan Wang, Lihong Yang

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Article in Thrombosis journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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7 authors.

Fengjiao WangKey Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Laboratory Medicine, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, Zhejiang, 325000, China.
Ling YouKey Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Laboratory Medicine, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, Zhejiang, 325000, China.
Xiaoli ChenDepartment of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, Zhejiang, 325000, China.
Fei XuKey Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Laboratory Medicine, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, Zhejiang, 325000, China.
Qiyu XuKey Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Laboratory Medicine, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, Zhejiang, 325000, China.
Mingshan WangKey Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Laboratory Medicine, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, Zhejiang, 325000, China.
Lihong YangKey Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Laboratory Medicine, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, Zhejiang, 325000, China. ylh91@163.com.ORCID http://orcid.org/0000-0002-9210-1022

Funding

Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province 2022E10022Wenzhou Science and Technology Project Y20210111
6 · The paper itself

Abstract

backgroundProtein S deficiency (PSD) markedly increases cerebral venous sinus thrombosis (CVST) risk; although global PROS1 variant data are extensive, Chinese reports remain limited.

objectiveTo characterize the genetic and clinical phenotypes of a family with hereditary PSD presenting as CVST, and to preliminarily explore underlying molecular pathogenesis.

methodsClinical and coagulation data were collected from the proband and family members. CVST was confirmed by magnetic resonance venography (MRV). The coding region of PROS1 gene was sequenced, and the pathogenicity, evolutionary conservation, and functional impact of identified variant was evaluated using bioinformatics tools and Pymol software. The thrombin generation assay (TGA) was used to preliminarily assess the proband's thrombin generation capacity.

resultsThe proband exhibited reduced PS activity (PS: A, 59%), along with decreased total and free PS antigen levels. Similar reductions were observed in her father, two sisters, and two nephews. MRV revealed extensive CVST. Genetic sequencing identified a heterozygous missense variant c.886 A > C (p.Lys296Gln) in exon 9 of the PROS1 gene in all affected individuals. The variant was classified as variant of uncertain significance. It resides in highly conserved region, altering local hydrophilicity and hydrogen bond interactions and likely impairing PS function. The TGA results indicated that the proband's thrombin generation capacity was significantly increased.

conclusionThis study reports a PROS1-related CVST case in which inherited variant acted synergistically with modifiable prothrombotic risk factors. The findings underscore the importance of comprehensive etiological screening in unexplained thrombosis and support familial genetic counseling and surveillance for early prevention.

Indexed as

Cerebral venous sinus thrombosisHereditary protein S deficiencyHeterozygous missense variantPROS1 gene

Identifiers

PMID42343414
PMCPMC13555875

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