Hypophosphatasia

Gene: ALPL

Transmission : Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation : Substitution, ALPL gene; c.1301 T>G , p.(V434G)

Medical system: Skeleton

Breed : Karelian Bear Dog

References :

OMIA link: [2162-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Kyöstilä K, Syrjä P, Lappalainen AK, et al. (2019) A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. Sci Rep 9:973.  [pubmed/30700765]