Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.

ABSTRACT:

Background

Antithrombin (AT) is the main physiological anticoagulant involved in hemostasis. Hereditary AT deficiency is a rare autosomal dominant thrombotic disease mainly caused by mutations in SERPINC1, which was usually manifested as venous thrombosis and pulmonary embolism. In this study, we analyzed the clinical characteristics and screened for mutant genes in two pedigrees with hereditary AT deficiency, and the functional effects of the pathogenic mutations were evaluated.

Methods

Candidate gene variants were analyzed by next-generation sequencing to screen pathogenic mutations in probands, followed by segregation analysis in families by Sanger sequencing. Mutant and wild-type plasmids were constructed and transfected into HEK293T cells to observe protein expression a

SUBMITTER: Wang HL 

PROVIDER: S-EPMC9830717 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature