A familial study of a de novo FGG gene mutation causing congenital hypofibrinogenaemia and intervention during pregnancy and childbirth.

ABSTRACT: To investigate the family line of a pregnant woman with congenital hypofibrinogenaemia due to a de novo mutation in the fibrinogen gamma (FGG) gene and experimentally explore its molecular pathological mechanisms. Peripheral blood specimens were collected from the proband and her family members for coagulation tests to assess their coagulation function. Whole exome sequencing was used to determine the gene mutation in the family lineage. SDS-PAGE was utilized to analyze the plasma of the proband and her mother for their congenital hypofibrinogenaemia. Structural distribution was analyzed by scanning electron microscopy. Molecular modeling was performed to predict the effect of mutation sites on fibrinogen structure and function. A de novo heterozygous mutation in the FGG gene was identifie

SUBMITTER: Xie Z 

PROVIDER: S-EPMC11873052 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature