Affected Gene: STRN
Inheritance: Multifactoriel- Autosomal dominant pattern of inheritance with incomplete penetration
Mutation: CanFam3.1 Chr17 g.29270913_29270920del8bp
OMIA link: 000878-9615

Appropriate breeds for testing: Boxer

Symptoms:
Arrhythmogenic right ventricular cardiomyopathy is an inherited heart disease characterized by ventricular arrhythmias, syncope and cardiac death in Boxer dogs. The first clinical signs appear in adult dogs, generally around the age of six.
The mutation is thought to have an autosomal dominant mode of inheritance, with incomplete penetration meaning that it may or may not develop in heterozygous dogs. However, the disease will generally develop in homozygous individuals having inherited the mutant allele from both parents. Furthermore, Meurs et al. (2010) and Cattanach et al. (2015) have reported autosomal dominance with generally low penetrance, meaning, in effect, that this disorder is multifactorial. It has been shown that this mutation is not directly responsible for ARVC, but is associated with it.

References:
Meurs, KM., Mauceli, E., Lahmers, S., Acland, GM., White, SN., Lindblad-Toh, K. :
Genome-wide association identifies a deletion in the 3' untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy. Hum Genet 128:315-24, 2010. Pubmed reference: 20596727 . DOI: 10.1007/s00439-010-0855-y.
Cattanach, B.M., Dukes-McEwan, J., Wotton, P.R., Stephenson, H.M., Hamilton, R.M. :
A pedigree-based genetic appraisal of Boxer ARVC and the role of the Striatin mutation. Vet Rec 176:492, 2015. Pubmed reference: 25661582 . DOI: 10.1136/vr.102821.