Ichthyosis (Golden Retriever Type 1)
Affected Genes: PNPLA1
Inheritance: Autosomal Recessive With Variable Expressivity
Variant(canFam6):
chr12:5437317: ACC>TACTACTA
Breed: Australian Labradoodle
Carolina Dog
Golden Retriever
Goldendoodle
Lab/Golden Cross
Labradoodle
Labrador Retriever
Service/Assistance Golden Retriever
Service/Assistance Lab/Golden Retriever cross
General Information: Ichthyosis (ICH-1) in Golden Retrievers manifests as a chronic skin condition typically evident before the dog reaches one year of age. Dogs with this condition display symptoms such as flaky skin, dull coat, and over time, the skin may thicken and develop a grayish, scaly appearance especially noticeable on the abdomen. The severity of these symptoms can vary greatly; some dogs experience only mild flaking while others suffer from extensive scaling covering their entire body. The condition can fluctuate, with periods of improvement or worsening throughout the dog's life. Although ICH-1 does not typically affect the overall health of the dog, the compromised skin barrier increases susceptibility to infections, requiring ongoing management.
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 for Ichthyosis (ICH-1) in Golden Retrievers targets mutations in the PNPLA1 gene to determine carrier status and susceptibility to the disease. ICH-1 follows an autosomal recessive inheritance pattern, meaning that two copies of the mutated gene—one from each parent—are necessary for a dog to exhibit symptoms of the disorder. Carrier dogs, possessing only one copy of the mutation, do not show any signs of ichthyosis but can pass the defective gene to their offspring. Breeding two carriers results in a 25% chance of producing affected offspring and a 50% chance of producing another carrier. To prevent the spread of this condition and ensure the health of future generations, it is advisable not to breed carriers together. Effective genetic testing helps breeders make informed decisions, avoiding the mating of carriers to minimize the risk of affected puppies. A normal genetic test result does not rule out other similar conditions, underscoring the importance of comprehensive health screenings in breeding practices.
References:
Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo, M., Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012 44(2):140-147.
Guaguere E, Bensignor E, Küry S, Degorce-Rubiales F, Muller A, Herbin L, Fontaine J, André C. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract. 2009 50(5):227-235.
Guaguere E, Thomas A, Grall, A, Bourrat E, Lagoutte L, Degorce-Rubiales F, Hitte C, Bensignor E, Fontaine J, Pin D, Queney G, Andre C. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations. In Torres SMF, Fran LA, Hargis AM. Ames (eds), Advances in Veterinary Dermatology, 7th ed. John Wiley & Sons Ltd, 2013.