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Ichthyosis, PNPLA1-related
Breeds
Relevance Rating: There is moderate evidence or research available for these breeds
GTPs
General
Disease Name
Ichthyosis, PNPLA1-related
OMIA
1588
Gene Name
PNPLA1
Gene Name 2
CanFam3.1, Chr.12
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8
Mutation 2
c.1451_1453delinsTACTACTA
Mutation 3
g.5417388_5417390delinsTACTACTA
Test Type
Genetic Disease/Disorder
Key Comments
Golden Retrievers and their crosses: while the disease is known in the breed, the prevalence (how common or rare) is unknown as it can be clinically misdiagnosed. It may be more common than expected.
Details
Ichthyosis is considered rare and appears to be breed specific, sometimes known as "fish scale" disease. It can resemble many other skin conditions such as allergies, dermatitis, and localized reactions. Most often present at birth, and can be painful. Symptoms include: thickened pads of his paws, irritated, flaking skin, may not itch or scab, also can cause thickened skin with scaly and greasy patches and flakes. This can cause water loss, as skin is unable to maintain moisture. Relevant peer-reviewed publications are available for both the Golden Retriever, and Golden Retriever crosses.
Details 2
"At the time when the causal mutation for this disorder was discovered to be in the PNPLA1 gene in Golden Retrievers, this gene had not been implicated in any human cases of the same disorder nor in any other diseases. Having made the canine discovery, Grall et al. (2012) then sequenced the PNPLA1 gene in human families with affected individuals, and discovered "one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families". This is an original way to discover clinically-important human mutations: to start by identifying what appear to be homologous disorders in spontaneous animal models, to identify the causal mutation in the animal model, and then use such knowledge to inform human medicine and also benefit veterinary medicine. (Thanks to Catherine André and Judith Fischer for their suggestions to FN in relation to this and other sections of this page; 27 January 2012)" [From OMIA]
Patents/ Licences
Patent: Antagene. (please note that patent and licensing laws and coverage vary by country)
Published
2012 Grall, A., Guaguère, E., Planchais, S., Grond, S., Bourrat, E., Hausser, I., Hitte, C., Le Gallo, M., Derbois, C., Kim, G.J., Lagoutte, L., Degorce-Rubiales, F., Radner, F.P., 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 44:140-7, 2012. Pubmed reference: 22246504. DOI: 10.1038/ng.1056.
Published 2
2016 Tamamoto-Mochizuki, C., Banovic, F., Bizikova, P., Laprais, A., Linder, K.E., Olivry, T. : Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. Vet Dermatol 27:306-e75, 2016. Pubmed reference: 27237723. DOI: 10.1111/vde.12323.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Golden Retriever, Goldendoodle
Breed-specific 1
Golden Retriever
Breed-specific 1 Details
Causal mutation discovered; multiple publications. 2012 Grall, A., Guaguère, E., Planchais, S., Grond, S., Bourrat, E., Hausser, I., Hitte, C., Le Gallo, M., Derbois, C., Kim, G.J., Lagoutte, L., Degorce-Rubiales, F., Radner, F.P., 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 44:140-7, 2012. Pubmed reference: 22246504. DOI: 10.1038/ng.1056.
Breed-specific 2
Goldendoodle
Breed-specific 2 Details
2016 Tamamoto-Mochizuki, C., Banovic, F., Bizikova, P., Laprais, A., Linder, K.E., Olivry, T. : Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. Vet Dermatol 27:306-e75, 2016. Pubmed reference: 27237723. DOI: 10.1111/vde.12323.
