Two patients with protein S deficiency and cerebral venous sinus thrombosis: nonsense mutations of the PROS1 gene may account for these deficiencies

doi:10.1097/MBC.0000000000001343

科研成果详情

题名	Two patients with protein S deficiency and cerebral venous sinus thrombosis: nonsense mutations of the PROS1 gene may account for these deficiencies
作者	Lingling Hou1; Xiaoli Chen 2; Haixiao Xie1; Ke Zhang 1; Yanhui Jin1; Minshan Wang 1; Lihong Yang1; Fei Xu1
发表日期	2025-03-01
发表期刊	Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 影响因子和分区
语种	英语
原始文献类型	Journal Article ; Case Reports
摘要	Cerebral venous sinus thrombosis (CVST) is a rare and atypical thrombotic condition, particularly prevalent among young adults, with a complex cause. In July and October 2023, two patients were diagnosed with hereditary protein S deficiency (PSD) presenting with CVST at the Department of Neurology, the first affiliated hospital of Wenzhou Medical University. This study analysed the phenotypes and gene mutations in two hereditary PSD pedigrees to investigate the link between hereditary PSD and CVST. A total of 11 individuals from these two pedigrees were involved. We measured protein S activity (PS:A) and total protein S antigen (TPS:Ag), and free protein S antigen (FPS:Ag) for all participants, screened them for mutations in the protein S1 (PROS1) gene. Both probands with CVST were diagnosed at a young to middle age. The concurrent reductions in PS:A, TPS:Ag, and FPS:Ag levels observed in the probands and their family members (A-I2, A-II1, A-II2, A-II3, A-III1, A-III2, B-I2) indicate type I PSD. Gene analysis unveiled two heterozygous nonsense mutations, c.1687C>T (p. Gln563∗) and c.1680T>A (p. Tyr560∗), in exon 14 of the PROS1 gene for pedigrees A and B, respectively. The reduced protein S levels in the probands and their relatives, along with CVST in both probands, are all linked to nonsense mutations p. Gln563∗ and p. Tyr560∗ in the PROS1 gene.
ISSN	0957-5235
EISSN	1473-5733
卷号	36 期号:2
DOI	10.1097/MBC.0000000000001343
收录类别	PUBMED
URL	查看原文
PubMed ID	39918901
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/225839
专题	附属第一医院第一临床医学院（信息与工程学院）、附属第一医院_内科学_神经内科
作者单位	1.Department of Laboratory Medicine, The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province.; 2.Department of Neurology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
第一作者单位	附属第一医院
第一作者的第一单位	附属第一医院
推荐引用方式 GB/T 7714	Lingling Hou,Xiaoli Chen,Haixiao Xie,et al. Two patients with protein S deficiency and cerebral venous sinus thrombosis: nonsense mutations of the PROS1 gene may account for these deficiencies[J]. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis,2025,36(2).
APA	Lingling Hou., Xiaoli Chen., Haixiao Xie., Ke Zhang., Yanhui Jin., ... & Fei Xu. (2025). Two patients with protein S deficiency and cerebral venous sinus thrombosis: nonsense mutations of the PROS1 gene may account for these deficiencies. Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis, 36(2).
MLA	Lingling Hou,et al."Two patients with protein S deficiency and cerebral venous sinus thrombosis: nonsense mutations of the PROS1 gene may account for these deficiencies".Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 36.2(2025).