Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency

doi:10.1007/s00277-023-05607-6

科研成果详情

题名	Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency
作者	Xu, Fei1; Zhou, Xingxing1; Jin, Yanhui1; Yang, Lihong1; Pan, Jingye1; Wang, Mingshan1; Chen, Xiaoli 2
发表日期	2024-03
发表期刊	Annals of hematology 影响因子和分区
语种	英语
原始文献类型	Journal Article
关键词	Bioinformatics tools CAT PROS1 Protein S deficiency p.Lys153Serfs*6
其他关键词	BINDING
摘要	We report three heterozygous PROS1 mutations that caused type I protein S deficiency in three unrelated Chinese families. We measured protein S activity and antigen levels for all participants, screened them for mutations in the PROS1 gene. And we employed the calibrated automated thrombin generation (CAT) method to investigate thrombin generation. Numerous bioinformatics tools were utilized to analyze the conservation, pathogenicity of mutation, and spatial structure of the protein S. Phenotyping analysis indicated that all three probands exhibited simultaneous reduced levels of PS:A, TPS:Ag, and FPS:Ag. Genetic testing revealed that proband A harbored a heterozygous c.458_458delA (p.Lys153Serfs6) mutation in exon 5, proband B carried a heterozygous c.1687C>T (p.Gln563stop) mutation in exon 14, and proband C exhibited a heterozygous c.200A>C (p.Glu67Ala) mutation in exon 2. Bioinformatic analysis predicted that the p.Lys153Serfs6 frameshift mutation and the p.Gln563stop nonsense mutation in the protein S were classified as "disease-causing." The identification of the novel mutation p.Lys153Serfs6 in PROS1 enriches the Human Genome Database. Our research suggests that these three mutations (p.Lys153Serfs6, p.Gln563stop, and p.Glu67Ala) are possibly responsible for the decreased level of protein S in the three families. Furthermore, the evidence also supports the notion that individuals who are asymptomatic but have a family history of PSD can benefit from genetic analysis of the PROS1 gene.
资助项目	Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province [2022E10022]; Science and Technology Plan Fund of Wenzhou [Y20220125]
出版者	SPRINGER
ISSN	0939-5555
EISSN	1432-0584
卷号	103 期号:3 页码:705-713
DOI	10.1007/s00277-023-05607-6
页数	9
WOS类目	Hematology
WOS研究方向	Hematology
WOS记录号	WOS:001136200400001
收录类别	PUBMED ; SCIE ; SCOPUS
在线发表日期	2024-01
URL	查看原文
PubMed ID	38175252
SCOPUSEID	2-s2.0-85181454049
通讯作者地址	[Chen, Xiaoli]Department of Neurology,The First Affiliated Hospital of Wenzhou Medical University,Shangcai Village, Ouhai District, Wenzhou,Zhejiang,325000,China
Scopus学科分类	Hematology
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/205814
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
通讯作者	Chen, Xiaoli
作者单位	1.Department of Clinical Laboratory,Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang,China; 2.Department of Neurology,The First Affiliated Hospital of Wenzhou Medical University,Shangcai Village, Ouhai District, Wenzhou,Zhejiang,325000,China
第一作者单位	附属第一医院; 临床检验诊断学; 第一临床医学院（信息与工程学院）、附属第一医院
通讯作者单位	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
第一作者的第一单位	附属第一医院
推荐引用方式 GB/T 7714	Xu, Fei,Zhou, Xingxing,Jin, Yanhui,et al. Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency[J]. Annals of hematology,2024,103(3):705-713.
APA	Xu, Fei., Zhou, Xingxing., Jin, Yanhui., Yang, Lihong., Pan, Jingye., ... & Chen, Xiaoli. (2024). Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency. Annals of hematology, 103(3), 705-713.
MLA	Xu, Fei,et al."Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency".Annals of hematology 103.3(2024):705-713.