Key result
STRN mutation is linked to Boxer ARVC locus but is not the causative gene.
Why the study?
Is the STRN mutation the causal gene for arrhythmogenic right ventricular cardiomyopathy in Boxer dogs?
Observational (n=194)
Yes
Is the STRN mutation the causal gene for arrhythmogenic right ventricular cardiomyopathy in Boxer dogs?
This pedigree analysis demonstrates that the widely tested STRN mutation in Boxer dogs is merely a linked genetic marker and not the causal mutation for ARVC, highlighting the need to identify the true causal gene.
Caution against STRN-based ARVC screening or breeding in Boxers; leaves open identification of the true causal variant.
The objective of this paper was to investigate by pedigree-based genetic means the origins and inheritance of arrhythmogenic right ventricular cardiomyopathy (ARVC) in UK Boxers and assess the role of the proposed causal mutation in the gene, Striatin (STRN). All ARVC cases traced back to a small number of imported American dogs deriving from the group of Boxers studied by Harpster (1983) to define the disease, strongly suggesting that the disease is the same in the two countries. Dogs with and without the STRN mutation were found in both ARVC affected and normal Boxers showing that the mutation is not responsible for the disease. Evidence was found that the STRN mutation is, however, genetically linked with the gene responsible on the same chromosome. The linkage implies that the two genes can separate by meiotic recombination such that both ARVC-affected and ARVC-unaffected lines of dogs may carry either the STRN mutation or its wild-type allele. These have been found. Homozygotes for the STRN mutation tended to be severely affected at early ages, suggesting that there is an interaction between the known effects of the STRN mutation on the cardiomyocyte and ARVC.
No takes yet. Share an insight, caveat, or question.
Cattanach et al. (2015) conducted an observational in Arrhythmogenic right ventricular cardiomyopathy (ARVC) in Boxer dogs (n=194). STRN (Striatin) mutation vs. Wild-type STRN allele was evaluated on Association between the STRN mutation and the ARVC disease phenotype. The STRN mutation is not responsible for arrhythmogenic right ventricular cardiomyopathy in Boxers, but is genetically linked to the responsible gene on the same chromosome.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: