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Ichthyosis type 2 (ICT2) - Golden Retriever and Goldendoodle
| Acronym: | ICT2 |
| Gene: | ABHD5 |
| Mutation: | g.2587000_2587013del |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Congenital ichthyosis is a heterogeneous group of genetic diseases characterized by abnormal differentiation (cornification) of the epidermis. In dogs, several forms of ichthyosis have been described so far and all of these disorders share an inability to correctly form the outermost layer of the epidermis—the stratum corneum. Ichthyosis is characterized by skin scaling and bad coat quality in affected dogs on the entire body and is detected shortly after birth. Probably the most common canine ichthyosis is the one found in Golden Retrievers, but recently there has been described a new variant found in Golden Retriever and Goldendoodle dogs. This new variant is caused by a deletion in a different gene, the ABHD5 gene, that encodes an acyltransferase required for lipid metabolism.
This new form of ichthyosis found in Golden Retriever and Goldendoodle dogs is inherited as an autosomal recessive trait, requiring both copies of the mutated gene for the disease to develop. That means Retrievers and Goldendoodles 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 the 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:
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. https://doi.org/10.1093/g3journal/jkab397
Guaguere, E., Bensignor, E., Küry, S., Degorce-Rubiales, F., Muller, A., Herbin, L., Fontaine, J., and André, C. (2009). Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract 50, 227–235.