Copper Toxicity, Wilson disease

Gene: ATP7B

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: Substitution, ATP7B gene; c.4151 G>A, p.(R1384Q)

Medical system: Digestive

Breeds: Labrador Retriever

References:

OMIA link : [1071-9615]

Haywood S, Swinburne J, Schofield E, et al. (2023) Copper toxicosis in Bedlington terriers is associated with multiple independent genetic variants. Vet Rec :e2832.  [pubmed/37038639]

Wu X, den Boer ER, Vos-Loohuis M, et al. (2020) Investigation of genetic modifiers of copper toxicosis in Labrador Retrievers. Life (Basel) 10:266.  [pubmed/33142854]

Wu X, Mandigers PJJ, Watson AL et al. (2019) Association of canine ATP7A and ATP7B with hepatic copper accumulation in Dobermann dogs.  J Vet Intem Med 33:1649-1649. [pubmed/31254371]

Pindar S, Ramirez C. (2019) Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs.Hum Genet. 138(5):541-546.  [pubmed/31062085]

Fieten H, Gill Y, Martin AJ, Concilli M, et al. (2016) The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech. 9(1):25-38. [pubmed/26747866]