Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B.

ABSTRACT:

Background

Hemophilia B (HB), a rare bleeding disorder, shows X-linked recessive inheritance and is caused by heterogeneous variants in the FIX gene (F9) encoding coagulation factor IX (FIX). This study aimed to investigate the molecular pathogenesis of a novel Met394Thr variant causing HB.

Methods

We used Sanger sequencing to analyze F9 sequence variants in members of a Chinese family with moderate HB. Subsequently, we performed in vitro experiments on the identified novel FIX-Met394Thr variant. In addition, we performed bioinformatics analysis of the novel variant.

Results

We identified a novel missense variant (c.1181T>C, p.Met394Thr) in a Chinese family with moderate HB in the proband. The proband's mother and grandmother were carriers for the variant. The identif

SUBMITTER: Lu L 

PROVIDER: S-EPMC10178796 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature