Ichthyosis-A (ICT-A)
Ichthyosis (Golden Retriever Type 1)
Ichthyosis-A (ICT-A) is a skin disease seen quite commonly in Golden Retrievers that causes the outer layer of the epidermis to form improperly resulting in thick and darkened skin that becomes excessively flakey. Symptoms can exhibit a range of severity from mild itching to more severe cases involving subsequent yeast or fungal infection. The disease may be detected at an early age, typically between birth and 1-2 years of age. As the dog ages symptoms may improve or worsen depending on differing stress levels, hormone cycles, and diet. In some cases, scale formation has been seen to decrease in older dogs. There is no current treatment for this disease beyond standard coat care for dry skin using special shampoos and conditioners.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Ichthyosis-A nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Ichthyosis-A but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Ichthyosis-A which results in dermatitis with symptoms of dry, flaky and discolored skin.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
PNPLA1
Chromosome
Ch. 12
Mutation
Chr12:5417388-5417390 (CanFam3): 3 Bp Deletion (Del ACC), 8 Bp Insertion (Ins TACTACTA)
Publication:
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]
