Ichthyosis (Golden Retriever Type 1)

Affected Genes: PNPLA1
Inheritance: Autosomal Recessive With Variable Expressivity
Mutation: chr12:5417388-5417390 (canFam3): 3 bp deletion (del ACC), 8 bp insertion (ins TACTACTA)

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Common Symptoms

Ichthyosis (golden retriever type) is an inherited condition of the skin affecting dogs. The age of onset and severity of disease are highly variable, however most affected dogs present before one year of age with flaky skin and dull hair. Over time the skin develops a grayish color and appears thick and scaly, especially over the abdomen. The symptoms may progress to severe scaling all over the body, may improve with age, or may come and go over the dog’s lifetime. While the prognosis is generally good for affected dogs, they are at increased risk for skin infections.

Breed-Specific Information for the Goldendoodle

The Mutation of the PNPLA1 gene associated with ichthyosis (golden retriever type) has been identified in the goldendoodle. Though the exact frequency in the overall goldendoodle population is unknown, approximately 44% out of 1600 golden retrievers tested from Australia, France, Switzerland, and the United States were carriers of the mutation and approximately 29% were affected.

Testing Tips

Genetic testing of the PNPLA1 gene in goldendoodles will reliably determine whether a dog is a genetic Carrier of ichthyosis (golden retriever type). Ichthyosis (golden retriever 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 PNPLA1 gene mutation. Reliable genetic testing is important for determining breeding practices. Because some affected dogs exhibit very mild symptoms, genetic testing should be performed before breeding. 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. Goldendoodles 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.


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