A study on the congenital hypodysfibrinogenemia family and its pathogenic mechanism
- VernacularTitle:一个遗传性低异常纤维蛋白原血症家系及其致病机制研究
- Author:
Jiawei ZHENG
1
;
Xiaomei LU
1
;
Lixia HAO
1
;
Linna LU
1
;
Jia YANG
1
;
Lidong ZHAO
1
;
Dongyan FU
1
;
Duanyang WANG
1
;
Gang WANG
1
;
Linhua YANG
1
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Hematology 2025;46(6):571-574
- CountryChina
- Language:Chinese
- Abstract: The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.
