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Dilated Cardiomyopathy (Dobermann Type)

Dilated Cardiomyopathy (Dobermann Type)

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Test Overview:

Genetic testing of all four variants is recommended to assess an individual dog's risk and inform breeding decisions. Breeders should avoid mating two high-risk carriers or homozygous animals to reduce disease prevalence. Dogs with no or low risk genotypes should be prioritized for breeding to help reduce DCM in the Dobermann population.

Category:

Cardiovascular - Associated with the heart and blood vessels

Gene:

Pyruvate dehydrogenase kinase 4 (PDK4) on chromosome 14

Variant Detected:

Nucleotide Deletion 16 base pair deletion (GGTATCCTTTCAACCCAG) in the 5’ donor splice site of intron 10 in PDK4 (canFam3:chr14:20829666-20829683)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Recommended Screening:

Genetic testing of the PDK4 gene will reliably determine if a dog is a genetic carrier of the PDK4 Mutation associated with dilated cardiomyopathy (Dobermann Type).

Research Citation(s):

Meurs KM, et al. A splice site mutation in a gene encoding for PDK4 a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher. (2012) Hum Genet 131;1319–1325

Associated Breed(s):

Dobermann, Miniature American Shepherd, Miniature Australian Shepherd,

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