Rapid identification of a pathogenic variant of PROS1 in a thrombophilic family by whole exome sequencing: A case report.

ABSTRACT:

Rationale

Venous thrombosis remains a significant problem in modern days. Genetic factors contribute to a subset of patients with venous thrombosis. It is sometimes challenging to identify the underlying culprit in thrombophilic individuals based on traditional laboratory testing and Sanger sequencing.

Patient concerns

A thrombophilic family presented with multiple venous thrombosis was examined.

Diagnoses

Molecular genetic analysis revealed a pathogenic missense variant of the PROS1 gene. Based on this finding and clinical manifestations, a final diagnosis of protein S deficiency was made.

Interventions

Whole exome sequencing (WES) of the proband was performed to identify disease-causing variants. Subsequently, Sanger sequencing was performed to validate the v

SUBMITTER: Zhang W 

PROVIDER: S-EPMC8718207 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature