Deutsch
Hrvatski
Русский
Português
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 - Dogue de Bordeaux
| Acronym: | PPKD |
| Gene: | KRT16 |
| Mutation: | c.[1147_1148delinsCGGA;1165del] |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Focal non-epidermolytic palmoplantar keratoderma (FNEPPK) is a group of skin conditions that often have a genetic cause. It is one of the common skin conditions found in dogs, with the highest incidence in the Dogue de Bordeaux dog breed. Affected dogs usually exhibit a painful thickening of the footpads with severe keratinous proliferations at the ground contact locations. The condition is treatable and has no impact on life expectancy, but may lead to secondary bacterial infection due to cracks in foot pads. The cause of the condition is an insertion/deletion (indel) within the keratin 16 gene (KRT16) that results in a frameshift change and premature stop codon. KRT16 encodes an intermediate filament protein expressed in the palmoplantar epidermis whose disruption could potentially lead to an abnormal distribution of the protein and the creation of aggregates.
This palmoplantar keratoderma in Dogue de Bordeaux dogs is inherited as an autosomal recessive trait, requiring two copies of the mutated gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify carriers and help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Plassais, J., Guaguere, E., Lagoutte, L., Guillory, A. S., de Citres, C. D., Degorce-Rubiales, F., Delverdier, M., Vaysse, A., Quignon, P., Bleuart, C., Hitte, C., Fautrel, A., Kaerle, C., Bellaud, P., Bensignor, E., Queney, G., Bourrat, E., Thomas, A., Andre, C. (2015). A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK). The Journal of investigative dermatology, 135(4), 1187–1190. https://doi.org/10.1038/jid.2014.526
Paradis, M. (1992), Footpad Hyperkeratosis in a Family of Dogues de Bordeaux. Veterinary Dermatology, 3: 75-78. https://doi.org/10.1111/j.1365-3164.1992.tb00148.x