Deutsch
Hrvatski
Русский
Português
Hereditary nasal parakeratosis (HNPK) - Greyhound Type
| Acronym: | HNPK |
| Gene: | SUV39H2 |
| Mutation: | c.996+3_996+6del |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Hereditary Nasal Parakeratosis (HNPK) is a genetic skin disorder that affects different dog breeds, including Greyhound dogs. The disorder is characterized by development of crusts and fissures on the affected dog’s nose pad that causes dry and scaly skin between 6 to 12 months of age. Fissures can be a source of inflammation and bacterial infection of the nasal skin which can be painful and irritating, but the affected dogs are otherwise healthy. With the progression of the disorder, changes in the nose pigmentation occur, fading from its natural dark colour to a lighter pink shade. The cause of this skin disorder is a small deletion in SUV39H2 gene which leads to delay in the differentiation of the keratinocytes in the nasal epidermis.
HNPK in Greyhound is inherited as an autosomal recessive trait, requiring both copies of the mutated gene for the disease to develop. That means Greyhound dogs with only one mutated gene copy will not develop the disease, but may potentially pass the mutation to their offspring. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding by proper selection of 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:
Bauer, A., Nimmo, J., Newman, R., Brunner, M., Welle, M. M., Jagannathan, V., & Leeb, T. (2018). A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis. Animal genetics, 49(2), 137–140. https://doi.org/10.1111/age.12643
Page N, Paradis M, Lapointe JM, Dunstan RW (2003) Hereditary nasal parakeratosis in Labrador Retrievers. Vet Dermatol 14: 103–110.
Jagannathan et al., (2013) A Mutation in the SUV39H2 Gene in Labrador Retrievers with Hereditary Nasal Parakeratosis (HNPK) Provides Insights into the Epigenetics of Keratinocyte Differentiation. PLOS Genetics, 9, e100384.