Ichthyosis (type Golden Retriever)

 

Gene: PNPLA1

Transmission: Autosomal, recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion plus insertion, PNPLA1 gene; del.3bp, ins.8bp, p.(N482I fs STOP 11), exon8

Medical system: Skin

Breeds: American Staffordshire Terrier/Amstaff, Beagle, Bernese Mountain Dog, Border Collie, German Shepherd, German Shorthaired Pointer, Golden Retriever, Goldendoodle, Great Dane, Great Pyrenees, Labrador Retriever, Poodle - Miniature (Dwarf), Poodle - Standard, Rhodesian Ridgeback, Rottweiler, Saint-Bernard, Siberian Husky, Weimaraner

Age of onset of symptoms: Very variable, but usually before 1 year

Ichthyosis refers to a family of skin diseases that disrupt normal skin structure and function and give a scaly appearance to the skin.  “Ichthy-” refers to fish, as in fish scales.  Ichthyosis is a very common condition in the canine population with both genetic and environmental contributing factors.  Associated clinical signs include whitish to blackish skin flakes on the trunk and belly as well as rough, hyperpigmented and dirty looking skin. Symptoms can be mild or more severe, may improve over time but then reappear at a later date.  Although affected animals have a generally good quality of life, they can be at higher risk of getting skin infections.

 

References:

Labgenvet blog

OMIA link: [1588-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Mauldin EA, Elias PM. (2021) Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol 32:567-e154. [pubmed/34796560]

Roethig A, Schildt KJ, Welle MM, et al. (2015) Is “milk crust” a transient form of golden retriever ichthyosis? Vet Dermatol. 26(4):265-e57. [pubmed/26178606]

Grall A, Guaguère E, Planchais S, et al. (2012) PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 44(2):140-7. [pubmed/22246504]

Guaguere E, Bensignor E, Küry S, et al. (2009) Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract. 50(5):227-35. [pubmed/19413748]