
Testing of cats: Frontonasal dysplasia
Related tests
- Combination Burmese cat GM2 + Frontonasal dysplasia + Hypokalemia + Myotonia + Blood Group DNA test
Frontonasal dysplasia in Burmese cats
Frontonasal dysplasia is an inherited disorder of the development of the skull in the area between the forehead and nose, resulting in facial deformity. Complications include respiratory problems, eye abnormalities or eating problems. The disease is particularly common in breeds focused on extremely flattened faces.
The causative mutation c.497_508del in the ALX1 gene has been identified.
The inheritance of the mutation is autosomal semi-dominant. This means that the phenotype of heterozygotes differs in the degree of manifestations from affected homozygotes and healthy individuals. Affected homozygous kittens may be stillborn or born alive, but their condition is incompatible with life, and they require euthanasia. Heterozygous cats have a brachycephalic phenotype typical of Burmese cats.
The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected individuals.
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References:
Lyons, L.A., Erdman, C.A., Grahn, R.A., Hamilton, M.J., Carter, M.J., Helps, C.R., Alhaddad, H., Gandolfi, B. : Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol 409:451-8, 2016. Pubmed reference: 26610632.