Category:

Dermatologic - Associated with the skin

Gene:

ABHD5

Variant Detected:

chr23:2274932-2274945 (canFam4): 14 bp deletion (GACTTCAACCAGAA)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Research Citation(s):

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. Kiener S, Wiener D, Hopke K, Diesel A, Jagannathan V, Mauldin E, Casal M, Leeb T. ABHD5 frameshift deletion in Golden Retrievers with ichthyosis, G3 Genes|Genomes|Genetics, 2021 [PubMed: 34791225]

Associated Breed(s):

Goldador, Golden Retriever, Goldendoodle, Groodalier, Groodle,