Peer-reviewed veterinary case report
Severe bone disease in Karelian Bear Dogs linked to ALPL gene variant
By Kyöstilä, Kaisa et al.·Published in Scientific reports·2019·Department of Veterinary Biosciences·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia.
- Species:
- dog
Plain-English summary
Seven Karelian Bear Dog puppies were found to have severe skeletal issues, including weak bones, slow growth, seizures, and trouble moving. Genetic testing revealed a specific mutation in the alkaline phosphatase gene that is linked to a condition similar to a human bone disease called hypophosphatasia. This mutation was not found in other breeds, indicating it is specific to this group of dogs. While the puppies' condition is serious, understanding this genetic link can help with breeding practices and potentially lead to better treatments in the future.
People also search for: Karelian Bear Dog seizures · puppy growth problems · canine hypophosphatasia treatment · dog bone disease symptoms · genetic testing for dogs
Abstract
Inherited skeletal disorders affect both humans and animals. In the current study, we have performed series of clinical, pathological and genetic examinations to characterize a previously unreported skeletal disease in the Karelian Bear Dog (KBD) breed. The disease was recognized in seven KBD puppies with a variable presentation of skeletal hypomineralization, growth retardation, seizures and movement difficulties. Exome sequencing of one affected dog revealed a homozygous missense variant (c.1301T > G; p.V434G) in the tissue non-specific alkaline phosphatase gene, ALPL. The identified recessive variant showed full segregation with the disease in a cohort of 509 KBDs with a carrier frequency of 0.17 and was absent from 303 dogs from control breeds. In humans, recessive and dominant ALPL mutations cause hypophosphatasia (HPP), a metabolic bone disease with highly heterogeneous clinical manifestations, ranging from lethal perinatal hypomineralization to a relatively mild dental disease. Our study reports the first naturally occurring HPP in animals, resembling the human infantile form. The canine HPP model may serve as a preclinical model while a genetic test will assist in breeding programs.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30700765/