Ichthyosis (Great Dane Type)

Affected Genes: SLC27A4
Inheritance: Autosomal Recessive
Mutation: chr9:55168916-55168916: G/A
Breed(s): Danoodle, Great Dane

Add To Cart Search Tests

Common Symptoms

Ichthyosis (Great Dane type) is an inherited skin disease affecting dogs. Affected dogs present as early as one week of age with greasy, scaly, thickened, and wrinkled skin which is most severe around the eyes and on the nose. Affected dogs are at risk of secondary infections in wrinkle folds and swollen skin around the eyes may impede eye opening after birth. Euthanasia within the first few months of life is common due to disease severity and quality of life concerns.


Testing Tips

Genetic testing of the SLC27A4 gene will reliably determine whether a dog is a genetic Carrier of ichthyosis (Great Dane type). Ichthyosis (Great Dane type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SLC27A4 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Hoffman A, Metzger J, Wohlke A, Peters M, Junginger J, Mischke R, Distl O, Hewicker- Trautwein M. Congenital Ichthyosis in 14 Great Dane Puppies With a New Presentation. Vet Pathol. 2016 May;53(3):614-20. doi: 10.1177/0300985815595516. [PubMed: 26242581]
  • Metzger J, Wohlke A, Mischke R, Hoffmann A, Hewicker-Trautwein M, Kuch E, Naim HY, Distl O. A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis. PLoS One. 2015 Oct 27;10(10):e0141514. doi: 10.1371/journal.pone.0141514. [PubMed: 26506231]