Testing of dogs: Ichthyosis 2

EU country
Outside of EU
Czech Republic
Are you VAT registered in EU country other than the Czech Republic?
Usual turnaround time: 12 business days
1 test price: 56.00 $ without VAT

Related tests

Ichthyosis 2 in Golden Retrievers

Ichthyosis 2 is the second type of ichthyosis that affects the Golden Retriever breed. In dogs affected by ichthyosis, the first symptoms begin to develop soon after birth. The degree of symptom expression varies between individuals. Keratinisation of the skin varies from an initial slight formation of light-coloured scales to the gradual formation of larger areas of dark scales. The scales of the skin peel off throughout the life. They form mainly on the abdomen, flanks, and chest. Symptoms may worsen with increasing age. In some cases, secondary infections occur in the affected areas of the skin due to bacteria or fungi.

Treatment of ichthyosis is currently only symptomatic. Using special shampoos, the skin can be cleaned regularly. Alternatively, dietary supplements containing essential fatty acids that are beneficial to the skin are recommended.

The mutation responsible for ichthyosis 2 has been found in 2022. Ichthyosis 2 is caused by a 14 bp deletion in the ABHD5 gene. The frequency of this mutation in the population is lower than the frequency of the mutation causing ichthyosis 1. Individuals affected by both ichthyosis 1 and 2 show similar symptoms. However, some breeders describe the degree of skin scaling as more severe in ichthyosis 2, which may be associated with the formation of a thicker epidermal layer. The discovery of this mutation has led to an explanation as to why even dogs negative for ichthyosis 1 may be affected by the disease.

Ichthyosis 2 in the Golden Retriever breed belongs to the group of autosomal recessive inherited diseases. Healthy individuals are referred to as N/N. An individual who inherits the mutated gene from one of the parents is referred to as N/P, has no clinical signs of the disease, but can pass the mutated gene on to their offspring. Only those individuals who inherit the mutated gene from both parents (referred to as P/P) show the above symptoms. Culling of carriers is not recommended because of the reduced genetic variability of the breed. When mating, it is important to choose the breeding pair so that there is no mating between two carriers, a carrier and an affected dog or two affected dogs. Both types of mutant alleles (ICTA1 and ICTA2) can occur simultaneously in dogs. However, individuals with N/P genotypes for both mutations are still asymptomatic.



Grall, Anaïs, et al. "PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans."Nature genetics 44.2 (2012): 140-147.

Kiener, S., Wiener, D. J., Hopke, K., Diesel, A. B., Jagannathan, V., Mauldin, E. A., Casal, M. L., & Leeb, T. (2022). ABHD5 frameshift deletion in Golden Retrievers with ichthyosis. G3 (Bethesda, Md.), 12(2), jkab397.

Result report preview


Breed list

Usual turnaround time: 12 business days
1 test price: 56.00 $ without VAT