Breeds Affected: Norfolk Terrier

Samples Accepted: Blood, Buccal Swabs

Disease Information: Epidermolytic hyperkeratosis causes areas of skin to be thick and darkened.  It is also very fragile.

Inheritance Information: Epidermolytic Hyperkeratosis is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.

The possible genotypes are:

N/N  The dog is normal, and cannot produce affected offspring.

N/eh The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/eh carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.

eh/eh  The dog is affected, and if bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/eh carrier, 50% of the offspring will be carriers and 50% will be affected.

Recommendations:
– Carriers may be bred to normal animals (N/eh x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.

– Breeding two carriers (N/eh x N/eh) is not recommended due to the possibility of 25% of the offspring being affected.

– Affected animals (eh/eh) should not be used for breeding.

Test Information: This test identifies a single base change in the KRT10 gene.

Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW.: Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol 153:51-8, 2005. Pubmed reference: 16029326. DOI: 10.1111/j.1365-2133.2005.06735.x

Further information is available at the Online Mendelian Inheritance in Animals website.

Test #: D197
Cost: 35 € (excl. VAT)
Time Required: 7-10 days