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Palmoplantar Hyperkeratosis - Rottweiler Type
| Acronym: | PPHK |
| Gene: | DSG1 |
| Mutation: | c.2541_2545del |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Palmoplantar hyperkeratosis is a genetically heterogenous group of inherited skin diseases characterized by excessive or abnormal thickening of the palmoplantar skin. It has been previously reported in several dog breeds including Dogues de Bordeaux and Irish Terriers. This type of footpad hyperkeratosis has been identified in Rottweiler dogs starting at an age of eight weeks. Affected dogs usually exhibit a painful thickening of the footpads with severe keratinous proliferations at the ground contact locations. The footpad lesions does not affect life expectancy but can cause severe discomfort to the dog if not treated and may lead to secondary bacterial infections. Hyperkeratosis in Rottweilers is caused by a variant located in the DSG1 gene encoding desmoglein 1, a protein expressed in the superficial upper layers of the skin epidermis where it has an important role in glycoprotein transport.
This type of an inherited skin disease in Rottweiler dogs is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. Dogs with only one copy of the gene will not develop the disease but can act as carriers of the mutation. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding.
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:
Backel, K. A., Kiener, S., Jagannathan, V., Casal, M. L., Leeb, T., & Mauldin, E. A. (2020). A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis. Genes, 11(4), 469. https://doi.org/10.3390/genes11040469