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Disproportionate Dwarfism (Vizsla Type)

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Test Overview:

Disproportionate Dwarfism affects dogs and is an inherited autosomal recessive disease. This disorder can be characterised by short legs and reduced overall height (compared to healthy dogs). Their longer limb bones are shortened and thickened with the flat articular surfaces.

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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