Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency.

ABSTRACT:

Introduction

Hereditary human coagulation factor VII (FVII) deficiency is an inherited autosomal recessive hemorrhagic disease involving mutations in the F7 gene. The sites and types of F7 mutations may influence the coagulation activities of plasma FVII (FVII: C) and severity of hemorrhage symptoms. However, the specific mutations that impact FVII activity are not completely known.

Methods

We tested the coagulation functions and plasma activities of FVII in seven patients recruited from six families with hereditary FVII deficiency and sequenced the F7 gene of the patients and their families. Then, we analyzed the genetic information from the six families and predicted the structures of the mutated proteins.

Results

In this study, we detected 11 F7 mutations, includin

SUBMITTER: Zhang X 

PROVIDER: S-EPMC8418470 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature