Long QT Syndrome

Gene: KCNQ1

Transmission: Autosomal dominant

For an autosomal dominant genetic disease, an animal must have at least one copy of the mutation in question to be at risk of developing the disease.  Animals with two copies of the mutation generally have more severe symptoms and an earlier onset of the disease than animals with just one copy of the mutation.  One or both of the parents of an animal with the mutation has one or two copies of the mutation.  Animals that have one or two copies of the mutation can pass the mutation on to future generations.

Mutation: Substitution, KCNQ1 gene; c.770 C>A, p.(257K), chr.18

Medical system: Cardiac

Breeds: English Springer Spaniel, Rottweiler

Age of onset of symptoms:

References:

OMIA link: [2332-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Ware WA, Reina-Doreste Y, Stern JA, Meurs KM. (2015) Sudden death associated with QT interval prolongation and KCNQ1 gene mutation in a family of English Springer Spaniels. J Vet Intern Med 29:561-8.  [pubmed/25779927]