Ichthyosis

£40.00

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Petagenics works very closely with the UK Kennel Club, and as such, agree to send to the Kennel Club tests results of ALL Kennel Club registered dogs, irrelevant of status (clear, carrier, affected). You (the customer), hereby agree to Petagenics forwarding your dogs test results to the Kennel Club, should you object to your dogs results being included in the results sent to the Kennel Club, then you should indicate here.
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Description

Other Names:
Inheritance:
Autosomal Recessive With Variable Expressivity
Mutation(s):
3 bp deletion (del ACC), 8 bp insertion (ins TACTACTA)
Affected Gene(s):
PNPLA1
Affected Breed(s):
Golden Retriever, Goldendoodle

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.

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 Jan 15;44(2):140-7. [PubMed: 22246504]
  • 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 May;50(5):227-35. [PubMed: 19413748]
  • 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.