Affected gene: PNPLA1
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 12 g.5417388_5417390delinsTACTACTA c.1445_1447delinsTACTACTA p.(N482Ifs*11)
OMIA link: 001588-9615

Appropriate breeds for testing: Golden retriever

References:
Roethig A, Schildt KJ, Welle MM, Wildermuth BE, Neiger R, Thom N. (2015) Is “milk crust” a transient form of golden retriever ichthyosis? Vet Dermatol. 26(4):265-e57. [pubmed/26178606]
Grall A, Guaguere E, Planchais S, et al. (2012) PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 44(2):140-7. [pubmed/22246504]
Guaguere E, Bensignor E, Kury S, et al. (2009) Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract. 50(5):227-35. [pubmed/19413748]