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Trapped Neutrophil Syndrome (TNS)
| Acronym: | TNS |
| Gene: | VPS13B |
| Mutation: | c.2893_2896del |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Autosomal recessive neutropenia, known as Trapped Neutrophil Syndrome (TNS), has been identified in the Border collie breed. Trapped Neutrophil Syndrome (TNS) is an inherited disease that affects a dog’s immune system and is marked by an inability to effectively combat infections. Clinical symptoms of dogs affected by TNS vary, depending on the nature of the pathogen involved. The disease is characterized by a deficiency of segmented neutrophils in the blood and hyperplasia of myeloid cells in the bone marrow. Severely affected pups show abnormal craniofacial development with a narrowed elongated skull shape described by breeders as ferret-like. Affected pups are often smaller than their litter mates and suffer from chronic infections and failure to thrive resulting from a compromised immune system. Some show early infections from six weeks of age. For others, the first sign of TNS is a bad reaction to immunization at 12 weeks, while in a few cases clinical signs are very mild and not recognized until two or more years of age. The TNS mutation is widely distributed, occurring in over 10% of the population of both working and show lines of Border Collies.
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:
Shearman, J.R., and Wilton, A.N. (2011). A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. BMC Genomics 12, 258.