Analysis of the gene mutation of patients with congenital plasminogen deficiency
10.3760/cma.j.cn114452-20250330-00202
- VernacularTitle:先天性纤溶酶原缺陷症患者的基因突变分析
- Author:
Dandan YU
1
;
Yanhui JIN
1
;
Haixiao XIE
1
;
Feng LIANG
1
;
Yifan LU
1
;
Fei XU
1
;
Mingshan WANG
1
;
Lihong YANG
1
Author Information
1. 温州医科大学附属第一医院医学检验中心，浙江省检验诊断及转化研究重点实验室，温州 325015
- Publication Type:Journal Article
- Keywords:
Plasminogen deficiency;
Plasminogen gene;
Gene mutation;
Cerebral infarction
- From:
Chinese Journal of Laboratory Medicine
2025;48(12):1581-1585
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the gene mutations of 18 patients with plasminogen (PLG) deficiency and to explore the clinical manifestations caused by PLG gene mutations.Methods:This study belongs to observational study-descriptive study: case series.Clinical data from 18 patients with PLG deficiency admitted to the First Affiliated Hospital of Wenzhou Medical University from January 1st, 2021 to May 31st, 2025 were collected. The age ranged from 16 to 70 years old, with an average of 48 years old. Among them, there were 10 males and 8 females. Anticoagulant blood samples were taken before treatment to measure and analyze plasminogen activity (PLG:A), plasminogen antigen (PLG:Ag), protein C activity, protein S activity, fibrinogen, antithrombin activity, D-dimer, and fibrin (fibrinogen) degradation products. PCR direct sequencing was used to analyze the 19 exons and flanking sequences of the PLG gene in these patients, and reverse sequencing was employed to verify the suspected mutations.Results:For the 18 patients, cranial MRI showed fresh cerebral infarction lesions, and PLG:A levels ranged from 19% to 67%, while no other lab indicators showed significant abnormalities, all presenting with dysplasminogenemia. Genetic analysis revealed five types of PLG gene mutations: c.1858G>A (p.Ala620Thr) heterozygous mutation, c.1858G>A (p.Ala620Thr) homozygous mutation, c.398A>G (p.His133Arg) heterozygous mutation, c.2108G>A (p.Gly703Asp) heterozygous mutation, and c.1702G>A (p.Gly568Arg) heterozygous mutation. Among the above, the c.1858G>A heterozygous mutation was the most common, and c.398A>G and c.1702G>A were identified for the first time.Conclusion:Patients with plasminogen deficiency caused by PLG gene defects are prone to occur cerebral infarction events, which may be related to impaired fibrinolytic function due to PLG gene mutations.
