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POAG Basset Hound Type
| Acronym: | POAG |
| Gene: | ADAMTS17 |
| Mutation: | c.194_213del |
| Inheritance: | |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Primary open-angle glaucoma (POAG) is a progressive genetic eye condition and part of a larger heterogeneous group of diseases associated with defects that lead to progressive retinal ganglion cell death and optic nerve degeneration. Glaucoma is described as primary if it occurs in the absence of any antecedent ocular disease and is considered inborn. POAG has been associated with several different ocular phenotypes in multiple dog breeds and is usually caused by mutations within the ADAMTS and ADAMTSL gene families that play an important role in ocular function. The type of primary glaucoma found in Basset Hound and Basset Fauve de Bretagne dogs is a consequence of a missense mutation in the ADAMTS17 gene that is responsible for primary lens luxation and has a role in extracellular matrix degradation and proteolysis of cell surface and soluble proteins. Dogs with a specific mutation in that gene have structural abnormalities and weak lens zonular fibers often leading to blindness.
This type of primary glaucoma in Basset Hound dogs is inherited as an autosomal recessive trait, requiring both copies of the mutated gene for the disease to develop. That means dogs with only one mutated gene copy will not develop the disease, but may potentially pass the mutation to their offspring. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Oliver, J. A., Forman, O. P., Pettitt, L., Mellersh, C. S. (2015). Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. PloS one, 10(10), e0140436. https://doi.org/10.1371/journal.pone.0140436
Jeanes, E. C., Oliver, J., Ricketts, S. L., Gould, D. J., Mellersh, C. S. (2019). Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma. Canine genetics and epidemiology, 6, 5. https://doi.org/10.1186/s40575-019-0071-6