Thursday, April 23, 2015
Mutations in the Gene Encoding Keratin 16 Cause Footpad Hyperkeratosis in Dogues de Bordeaux
Plassais J, Guaguère E, Lagoutte L, et al. A spontaneous KRT16 mutation in a dog breed: a model for human focal nonepidermolytic palmoplantar keratoderma (FNEPPK). J Invest Dermatol 2015; 135: 1187-1190. (Link to Pubmed).
PubMed ID (PMID): 25521457
Comments: The Dogue de Bordeaux breed has been long known for being predisposed to the development of a hereditary footpad hyperkeratosis. This paper reveals a lack of expression of keratin 16 in suprabasal footpad keratinocytes in affected dogs. Furthermore, the authors detected a 1 base pair insertion in the KRT16 gene, which resulted in a truncation of keratin 16 due to the loss of the last 85 aminoacids. All affected dogs were found to be homozygotes for the mutated allele; carrier dogs that were heterozygous for the mutation did not exhibit any clinical signs, as is usually the case for the rare autosomal recessive keratinopathies.