Association of the Coagulation Factor V c.3865T>G Mutation with Genetic and Regional Susceptibility to Cerebral Venous and Sinus Thrombosis in Xiangyang.

Abstract

Objective: This study investigates the potential genetic and regional associations of a newly identified c.3865T>G mutation in the F5 gene (coagulation factor V) with cerebral venous and sinus thrombosis (CVST).

Methods: Two groups of CVST cases associated with hereditary thrombophilia were analyzed. Genetic sequencing was performed to identify the patients' genetic profiles. A family pedigree analysis and a review of relevant literature were conducted to assess the pathogenic significance of the mutation.

Results: Genetic analysis revealed the presence of a c.3865T>G mutation in the F5 gene in both cases. This mutation is distinct from the well-established Leiden mutation and has not been previously reported. Although the two patients' families had no direct blood relationship, both patients resided in the same geographic region, suggesting the possibility of shared environmental or genetic factors. Advances in diagnostic technologies have also facilitated the identification of hereditary thrombophilia as an increasingly recognized cause of CVST.

Conclusion: The c.3865T>G mutation in the F5 gene may represent a novel genetic contributor to CVST. Its regional clustering points to a potential genetic and geographic association. These findings provide new insights into the etiology and diagnosis of CVST and underscore the importance of investigating regional genetic predispositions further.