ArticleScientific reports2019
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 11 citations in OpenAlex.
- Review
- Dentoalveolar Defects of Hypophosphatasia are Recapitulated in a Sheep Knock-In Model.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.PLoS computational biology · 2022Article
- Intronic variant in POU1F1 associated with canine pituitary dwarfism.Human genetics · 2021Article
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.Frontiers in endocrinology · 2019Review
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Authors and funding
9 authors at 2 institutions in 2 countries.
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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.
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