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Ichthyosis is a disease of the skin, causing itch, hair loss and the formation of dry, flaky “scales”.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 12 |
| Mutation | c.1445_1447delinsTACTACTA |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | ICH1 |
General information
Ichthyosis is a disease of the skin, causing itch, hair loss and the formation of dry, flaky “scales”. It can also leave the skin vulnerable to yeast infection. This variant of the disorder, found in the Golden Retriever, is caused by a recessive mutation to the gene PNPLA1.
Clinical features
Within a few weeks after birth, affected dogs can present with scaling of the skin. These scales can vary in size, and start out as white, though they progressively blacken.
Additional information
This is one of two mutant genes known to cause Golden Retriever ichthyosis. On 30‑03‑2023, we changed the name of Test H873 from “Ichthyosis‑2” to “Ichthyosis – Golden Retriever Type 1”. This means that results issued under Test Code H873 with the test name “Ichthyosis‑2” were tested for the same mutation that is now referred to as “H873 Ichthyosis – Golden Retriever Type 1”.
References
Pubmed ID: 22246504
Year published: 2012
Omia ID: 1588
Omia variant ID: