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Dog Ichthyosis / Epidermolytic Hyperkeratosis (EHK)
| Acronym: | EHK |
| Gene: | KRT10 |
| Mutation: | c.1125+1G>T |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Dog ichthyosis is a hereditary, monogenic, cornification disorder, appearing early and persisting for life. In veterinary medicine, ichthyosis is now commonly classified into either epidermolytic or non-epidermolytic subtypes. Most reported cases in dogs are non-epidermolytic with heterogeneous clinical, histopathological, and ultrastructural profiles.
Epidermiolitic hyperkeratosis / Ichthiosys is a skin disorder transmitted as a recessive trait through an extended pedigree of Norfolk terrier dogs caused by a mutation in gene encoding keratin 10. Affected dogs display lesions from birth through adulthood with all of the hallmarks of a mild, superficial, nonpalmar /plantar epidermolytic ichthyosis while heterozygotes are clinically and histologically normal.
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:
Credille, K.M., Barnhart, K.F., Minor, J.S., and Dunstan, R.W. (2005). 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, 51–58.
Guaguere, E., Bensignor, E., Küry, S., Degorce-Rubiales, F., Muller, A., Herbin, L., Fontaine, J., and André, C. (2009). Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract 50, 227–235.
Gross, T.L., Ihrke, P.J., Walder, E.J. & Affolter, V.K. (2005): Chapter 8: Diseases with abnormal cornification. 2.nd edt. In: T.L. Gross (ed.): Skin Diseases of the Dog and Cat: Clinical and Histopathological Diagnosis. Blackwell Science Ltd, UK, pp. 161-198.