Association of the TTN, PDK4, and RNF207 mutations with dilated cardiomyopathy in Dobermanns from the United Kingdom.

ABSTRACT: A missense mutation in the titin gene (TTN) and a splice-site mutation in the pyruvate dehydrogenase kinase 4 gene (PDK4) have been associated with dilated cardiomyopathy (DCM) in Dobermanns from the United States. Additionally, a missense mutation in the gene RNF207 has been reported in association with DCM from a European Dobermann cohort. Based on this we examined the association of these variants with DCM in United Kingdom (UK) Dobermanns. We hypothesized that the TTN and PDK4 gene variants would not be associated with DCM in UK Dobermanns and that there would be an association between the RNF207 mutation and DCM. We included 74 client owned dogs (30 control dogs and 44 dogs with DCM) in the study. Allele frequencies for each variant were calculated. Chi-square testing was used to asse

SUBMITTER: Dutton LC 

PROVIDER: S-EPMC11906055 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature