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Hypophosphatasia

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Test Overview:

Hypophosphatasia is a severe skeletal disease that is inherited and affects the Karelian Bear Dog breed. It is a metabolic bone disease whereby there is an impairment with the skeletal mineralisation, leading to a presentation of 'skeletal hypomineralisation', movement difficulties, growth retardation and seizures. The age of onset for this disease is around 2-10 weeks, with the initial symptoms being growth retardation, seizures, generalised muscle weakness, movement difficulties and crouched stance. Affected puppies can usually die within a few weeks of their first symptoms, or are generally euthanised due to their severe clinical signs.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

ALPL

Variant Detected:

missense variant (c.1301T > G; p.V434G)

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 Recessive

Recommended Screening:

Genetic testing of the ALPL gene can reliably determine if a dog is a genetic carrier of Hypophosphatasia.

Research Citation(s):

Kyostila, K., Syrja, P., Lappalainen, A.K. et al. A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. Sci Rep 9, 973 (2019). https://doi.org/10.1038/s41598-018-37801-2

Associated Breed(s):

Mixed Breed,
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