Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2012
Species-specific name: This entry was previously called Ichthyosis, Golden Retriever
Species-specific symbol: -
More detail information can see in
iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
---|---|---|---|---|---|---|
CB116 | Golden Retriever | 58.4-61 cm (male), 54.6-57.2 cm (female) | 29.5-34 kg (male), 24.9-29.5 kg (female) | United Kingdom (Scotland) |
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
PNPLA1 | patatin-like phospholipase domain containing 1 | Canis lupus familiaris | Chr12 : 5725170 - 5771521 | Homologene, Ensembl, NCBI gene |
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 . |
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 . |
2012 |
Grall,A.,Guaguère,E.,Planchais,S.,Grond,S.,Bourrat,E.,Hausser,I.,Hitte,C.,LeGallo,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 . |
2008 |
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 . |