The detail information of Ichthyosis, PNPLA1-related
OMIA Basic Information

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

Associated Breeds
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)
Associated Gene
Symbol Description Species Position Other Links
PNPLA1 patatin-like phospholipase domain containing 1 Canis lupus familiaris Chr12 : 5725170 - 5771521 Homologene, Ensembl, NCBI gene
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.
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 .