Myeloperoxidase Deficiency

Gene: MPO

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, MPO gene; c.1936 C>T ; p.(R646 STOP)

Medical system: Blood

Breeds: Beagle, German Shepherd

References:

OMIA link: [2028-9615]

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]

Gentilini F, Zambon E, Mancini D, Turba ME. (2016) A nonsense mutation in the myeloperoxidase gene is responsible for hereditary myeloperoxidase deficiency in an Italian hound dog. Anim Genet 47:632-3.  [pubmed/27296514]