Spongy Degeneration with Cerebellar Ataxia, SDCA2

Gene: ATP1B2

Transmission : Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Insertion, ATP1B2 gene; c.130_131, insertion 227 bp SINE sequence

Medical system: Neurologic

Breeds: Belgian Malinois, Dutch Shepherd, German Shepherd

References:

OMIA link: [2110-9615]

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]

Stee K, Van Poucke M, Lowrie M, et al. (2023) Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med. [pubmed/37341581]

Mauri N, Kleiter M, Dietschi E, Leschnik M, et al. (2017) A SINE insertion in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3 (Bethesda) 7(8):2729-2737. [pubmed/28620085]