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Vet. Sci. 2018, 5(2), 48;

Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs

Clinica Veterinaria Meda, via Libertà 76, 20825 Milan, Italy
Department of Health, Animal Science and Food Safety, University of Milan, via Trentacoste 2, 20134 Milan, Italy
Clinica Veterinaria San Siro, via Lampugnano 99, 20151 Milan, Italy
Author to whom correspondence should be addressed.
Received: 10 April 2018 / Revised: 2 May 2018 / Accepted: 4 May 2018 / Published: 8 May 2018
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A non-epidermolytic ichthyosis has been identified in Golden Retrievers due to a variant in the PNPLA1 gene, and a genetic test is available to detect wild-type, heterozygous and homozygous dogs. The aims of this study were to investigate the prevalence of the PNPLA1 gene variant in Golden Retrievers used for breeding and to provide more information to breeders in order to restrict the spread of this disease. Clinical examination and assessment of the PNPLA1 genotype using PCR testing of oral swabs were performed in 48 breeding Golden Retrievers. Wild-type, heterozygous or homozygous variants of the PNPLA1 gene were demonstrated in 10 (21%), 23 (48%), and 15 (31%) of the 48 dogs, respectively. In only 3 of the 48 dogs were clinical signs suggestive of ichthyosis identified. Data collected agreed with data reported in the literature. The high prevalence of homozygous and heterozygous variants makes the exclusion of mutated dogs from breeding impractical. Furthermore, the reliability of the PNPLA1 mutation in prediction of clinical signs of ichthyosis is unclear. Additional studies are needed to investigate if PNPLA1 is the only gene involved or if other genes and environmental factors have a role in the development of ichthyosis in Golden Retrievers. View Full-Text
Keywords: breeding; genetic disorder; Golden Retriever; PNPLA1; ichthyosis breeding; genetic disorder; Golden Retriever; PNPLA1; ichthyosis
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Graziano, L.; Vasconi, M.; Cornegliani, L. Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs. Vet. Sci. 2018, 5, 48.

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