In other species: sheep

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 241500 (trait) , 171760 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2019

Species-specific symbol: HPP

History: The paper by Kyöstilä et al. (2019) is another example of the first report of a disorder that also presents a likely causal variant for that disorder.

Molecular basis: Kyöstilä et al. (2019): "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."

Clinical features: Kyöstilä et al. (2019): "The disease was recognized in seven KBD puppies with a variable presentation of skeletal hypomineralization, growth retardation, seizures and movement difficulties"

Pathology: Kyöstilä et al. (2019): "Overall, the pathological findings in affected dogs were compatible with a generalized skeletal ossification and mineralization defect. The specific finding of C cell hyperplasia was indicative of long-term hypercalcemia and compatible with the elevated serum calcium level measured in one affected puppy."

Prevalence: Kyöstilä et al. (2019): "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."

Breed: Karelian Bear Dog (Dog) (VBO_0200754).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: