OMIA:001588-9615 : Ichthyosis, PNPLA1-related in Canis lupus familiaris |
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 612121 (gene) , 615024 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2012
Cross-species summary: Called Autosomal Recessive Congenital Ichthyosis (ARCI) in humans
Species-specific name: This entry was previously called Ichthyosis, Golden Retriever
Species-specific description: 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)
Mapping: Unlike ichthyosis in the Jack Russell terrier (OMIA 000546-9615) which maps to canine chromosome CFA8 (TGM1 gene), and ichthyosis in the Norfolk terrier (OMIA 001415-9615) which maps to canine chromosome CFA9 (KRT10 gene), ichthyosis in Golden Retrievers maps to a locus on CFA12 (PNPLA1 gene), as shown by Grall et al. (2012), who conducted a GWAS on 20 affecteds and 20 controls, each genotyped with the Affymetrix v2 canine SNP.
Molecular basis: The Golden Retriever causal mutation was reported by Grall et al. (2012) to be an "insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs". Using the genetic variant nomeclature as of 2015, the causative variant can be described as c.1445_1447delinsTACTACTA or p.N482Ifs*11.
Genetic testing: A genetic test has been licenced to Antagene, Lyon, France (www.antagene.com).
Breed: Golden Retriever.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PNPLA1 | patatin-like phospholipase domain containing 1 | Canis lupus familiaris | 12 | NC_051816.1 (5725170..5771521) | PNPLA1 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 616 | Golden Retriever | Ichthyosis, PNPLA1-related | PNPLA1 | delins, small (<=20) | Naturally occurring variant | CanFam3.1 | 12 | g.5417388_5417390delinsTACTACTA | c.1445_1447delinsTACTACTA | p.(N482Ifs*11) | NM_001290109.2; NP_001277038.2 | 2012 | 22246504 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2022 | Petak, A., Šoštarić-Zuckermann, I.C., Hohšteter, M., Lemo, N. : |
| Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever. Vet Sci 9:, 2022. Pubmed reference: 35324825 . DOI: 10.3390/vetsci9030097. | |
| 2021 | Mauldin, E.A., Elias, P.M. : |
| Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol 32:567-e154, 2021. Pubmed reference: 34796560 . DOI: 10.1111/vde.13033. | |
| Thorsrud, J.A., Huson, H.J. : | |
| Description of breed ancestry and genetic health traits in arctic sled dog breeds. Canine Med Genet 8:8, 2021. Pubmed reference: 34544496 . DOI: 10.1186/s40575-021-00108-z. | |
| 2016 | Leroy, G., Besbes, B., Boettcher, P., Hoffmann, I., Capitan, A., Baumung, R. : |
| Rare phenotypes in domestic animals: unique resources for multiple applications. Anim Genet 47:141-53, 2016. Pubmed reference: 26662214 . DOI: 10.1111/age.12393. | |
| 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. | |
| 2015 | Roethig, A., Schildt, K.J., Welle, M.M., Wildermuth, B.E., Neiger, R., Thom, N. : |
| Is "milk crust" a transient form of golden retriever ichthyosis? Vet Dermatol 26:265-e57, 2015. Pubmed reference: 26178606 . DOI: 10.1111/vde.12216. | |
| 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. | |
| 2011 | Owczarek-Lipska, M., Thomas, A., André, C., Hölzer, S., Leeb, T. : |
| [Frequency of gene defects in selected European retriever populations]. Schweiz Arch Tierheilkd 153:418-20, 2011. Pubmed reference: 21866517 . DOI: 10.1024/0036-7281/a000236. | |
| 2009 | Guaguere, E., Bensignor, E., Küry, S., Degorce-Rubiales, F., Muller, A., Herbin, L., Fontaine, J., André, C. : |
| Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract 50:227-35, 2009. Pubmed reference: 19413748 . DOI: 10.1111/j.1748-5827.2009.00730.x. | |
| 2008 | Cadiergues, M.C., Patel, A., Shearer, D.H., Fermor, R., Miah, S., Hendricks, A. : |
| Cornification defect in the golden retriever: clinical, histopathological, ultrastructural and genetic characterisation. Vet Dermatol 19:120-9, 2008. Pubmed reference: 18477327 . DOI: 10.1111/j.1365-3164.2008.00667.x. | |
| Mauldin, E.A., Credille, K.M., Dunstan, R.W., Casal, M.L. : | |
| The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever. Vet Pathol 45:174-80, 2008. Pubmed reference: 18424829 . DOI: 10.1354/vp.45-2-174. | |
| 2007 | Guaguere, E., Bensignor, E., Muller, A., Degorce-Rubiales, F., Andre, C. : |
| Epidemiological, clinical, histopathological and ultrastructural aspects of ichthyosis in golden retrievers: a report of 50 cases. Veterinary Dermatology 18:382-383, 2007. | |
| 2004 | Hall, J.A., Yager, J. : |
| Diagnostic dermatology. Can Vet J 45:872, 874, 2004. Pubmed reference: 15532893 . |
Edit History
- Created by Frank Nicholas on 21 Jul 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 26 Jan 2012
- Changed by Frank Nicholas on 27 Jan 2012
- Changed by Frank Nicholas on 29 Jan 2012
- Changed by Frank Nicholas on 20 May 2013
- Changed by Tosso Leeb on 23 Dec 2015
- Changed by Frank Nicholas on 23 Mar 2017