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Hoof Wall Separation Disease (HWSD)
| Acronym: | HWSD |
| Gene: | SERPINB11 |
| Mutation: | c.504_505insC |
| Inheritance: | Autosomal Recessive |
| Sample type: | WBE (Whole Blood EDTA), HA (Hairs - with roots) |
Genetics and characteristics
Hoof Wall Separation Disease (HWSD) is an inherited dermal disease that affects horses, characterized by a hoof wall that easily breaks and separates. Without the integrity of the hoof wall, horses cannot support their weight effectively, and the associated chronic inflammation leads to laminitis which is very painful and often leads to euthanasia. HWSD is caused by a genetic mutation in a serpin peptidase inhibitor (SERPINB11) gene responsible for regulating diverse biological processes, including inflammation and immune response. A frameshift mutation in the SERPINB11 gene leads to characteristic signs of HWSD, but the correct mechanism is still unknown, which is why further investigation is needed.
HWSD is inherited as an autosomal recessive trait, therefore only horses with two copies of the mutation will show clinical signs of the disease. However, in horses homozygous for the mutation some cases showed to be milder while others were more severe. HWSD affects only the Connemara Pony breed, known for its strong, hearty hooves. The disease is incurable, but early detection by genetic testing can help select mating pairs to avoid producing affected horses.
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:
Askew, D. J., Cataltepe, S., Kumar, V., Edwards, C., Pace, S. M., Howarth, R. N., … Silverman, G. A. (2007). SERPINB11 Is a New Noninhibitory Intracellular Serpin. Journal of Biological Chemistry, 282(34), 24948–24960. doi:10.1074/jbc.m703182200
Finno, C. J., Stevens, C., Young, A., Affolter, V., Joshi, N. A., Ramsay, S., & Bannasch, D. L. (2015). SERPINB11 Frameshift Variant Associated with Novel Hoof Specific Phenotype in Connemara Ponies. PLOS Genetics, 11(4), e1005122. doi:10.1371/journal.pgen.1005122