Identification of a Novel Mutation in the SERPINE1 Gene Causing Clinical Hyperfibrinolysis in English Springer Spaniel Dogs.

ABSTRACT:

Background

A 7-month-old female spayed English Springer Spaniel (ESS) was evaluated for spontaneous hemoperitoneum. Hyperfibrinolysis was identified on thromboelastography.

Hypothesis/objectives

To identify a genetic mutation causing congenital hyperfibrinolysis in the proband and evaluate the prevalence of the mutation in the ESS breed.

Animals

Client-owned ESS with hemorrhage and a non-affected littermate. Samples of DNA from 3 ESS, 1 Welsh Springer Spaniel (WSS) with unexplained hemorrhage, and 199 ESS with no history of hemorrhage.

Methods

Whole genome sequencing (WGS) of the proband with variant filtering against an in-house WGS database of 671 presumably unaffected dogs identified a deleterious variant of SERPINE1 unique to the proband, which encodes for

SUBMITTER: Kilpatrick K 

PROVIDER: S-EPMC12138437 | biostudies-literature | 2025 Jul-Aug

REPOSITORIES: biostudies-literature