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Ichthyosis (Pembroke Welsh Corgi Type)

Affected Genes: ASPRV1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr10:8476896-8476897 2 bp deletion CA

Breed: Pembroke Welsh Corgi

General Information: Ichthyosis (Pembroke Welsh Corgi Type) is an inherited skin disorder in dogs characterized by the abnormal development and shedding of the skin, leading to dry, scaly, and flaky skin. This condition results from a genetic mutation that affects the normal process of skin cell turnover. Dogs with two copies of the associated gene mutation are predisposed to Ichthyosis, which can manifest shortly after birth or in early puppyhood. Symptoms include thickened skin, excessive dandruff, and increased susceptibility to skin infections. While not all dogs with the mutation will show severe symptoms, the condition often requires lifelong management with specialized skin care routines, including regular baths with medicated shampoos and the use of moisturizers to maintain skin health and comfort.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the specific gene associated with Ichthyosis (Pembroke Welsh Corgi Type) can determine if a dog is a carrier of this condition. This disorder is inherited in an Autosomal Recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.


References:
Kiener S, Åhman S, Cikota R, Jagannathan V, Blatter S, Cvitas I, Soto S, and Leeb T. Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis. Anim Genet. 2024 55(3):490-492.