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Upper Airway Syndrome (UAS) - Norwich Terrier Type
| Acronym: | UAS |
| Gene: | ADAMTS3 |
| Mutation: | c.2786G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Upper Airway Syndrome (UAS) is a genetic respiratory disease prevalent across various dog breeds, particularly in brachycephalic breeds such as the Bulldog and French bulldog. This specific type of respiratory syndrome, though, is very common in Norwich Terrier, a dog breed that does not have flat facial conformation and does not usually represent a risk type for the syndrome. UAS is characterized by the same symptoms as other similar types of respiratory syndromes such as Brachycephalic Obstructive Airway Syndrome (BOAS) and they include oedema of the nasopharynx, thickening of the soft palate and heavy breathing. The cause of the Upper Airway Syndrome is a missense mutation in exon 20 of ADAM metallopeptidase with thrombospondin type 1 motif 3 (ADAMTS3), a gene essential for the development and growth of lymphatic vessels.
This type of a respiratory disease is inherited as an autosomal recessive trait. Norwich Terriers carring two copies of the mutated gene have a high risk for developing the disease. Dogs carrying only one copy of the mutated gene are very unlikely to develop the disease but may act as carriers that can 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.
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. |
AFFECTED HETEROZYGOTE |
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to 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.
**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Marchant, T. W., Dietschi, E., Rytz, U., Schawalder, P., Jagannathan, V., Hadji Rasouliha, S., Gurtner, C., Waldvogel, A. S., Harrington, R. S., Drögemüller, M., Kidd, J., Ostrander, E. A., Warr, A., Watson, M., Argyle, D., Ter Haar, G., Clements, D. N., Leeb, T., Schoenebeck, J. J. (2019). An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome. PLoS genetics, 15(5), e1008102. https://doi.org/10.1371/journal.pgen.1008102
Johnson, L. R., Mayhew, P. D., Steffey, M. A., Hunt, G. B., Carr, A. H., McKiernan, B. C. (2013). Upper airway obstruction in Norwich Terriers: 16 cases. Journal of veterinary internal medicine, 27(6), 1409–1415. https://doi.org/10.1111/jvim.12206