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Disproportionate Dwarfism (Vizsla Type)

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Test Overview:

Breeders should test breeding dogs for the PCYT1A mutation to accurately identify carriers and affected dogs. To avoid producing affected puppies, carrier-to-carrier matings should be avoided. Mating between a carrier and a clear dog leads to approximately 50% carrier puppies and 50% clear puppies. Clear x Clear matings produce only clear puppies. Responsible breeding balances eliminating the disease with maintaining genetic diversity and should rely on transparent test result reporting through databases such as OFA.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

PCYT1A

Variant Detected:

c.673T>C

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Disproportionate Dwarfism.

Research Citation(s):

Ludwig-Peisker, O., Ansel, E., Schweizer, D., Jagannathan, V., Loechel, R., Leeb, T. : PCYT1A missense variant in Vizslas with disproportionate dwarfism. Genes (Basel) 13:2354, 2022. Pubmed reference: 36553621

Associated Breed(s):

Hungarian Vizsla, Hungarian Wirehaired Vizsla, Wirehaired Vizsla,

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