The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels

Abstract

AbstractParadoxical pseudomyotonia has previously been described in the English Cocker Spaniel (ECS) and English Springer Spaniel (ESS) breeds, without the identification of potentially causative variants. This disease is characterised by episodes of exercise‐induced generalised myotonic‐like muscle stiffness, phenotypically similar to congenital pseudomyotonia in cattle, and paramyotonia congenita and Brody disease in people. Four additional affected ESS dogs with paradoxical pseudomyotonia are described in this report, together with the identification of the autosomal recessive c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant as candidate disease‐causing variant in both ECS and ESS. The variant has an estimated prevalence of 2.5% in both breeds in the British study samples, but was not identified in the Belgian study samples. Genetic testing‐based breeding should be a useful tool to eliminate this disease in the future, although an effective treatment option is available for severely affected dogs.