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Trapped Neutrophil Syndrome (TNS)

General

Disease Name
Trapped Neutrophil Syndrome (TNS)
OMIA
1428
Gene Name
VPS13B
Mutation
g.4411950_4411953delGTTT
OMIM
216550
Disease Code
TNS
Test Type
Genetic Disease/Disorder
Details
Trapped Neutrophil Syndrome (TNS) is a mutation causing the dog's infection-fighting white blood cells to not be released from the bone marrow. The dog's immune system is unable to fight off infections and the dog eventually dies, usually when they are a few months old. Age of onset from birth, but symptoms may not be apparent until 7 months. An affected puppy may not show any specific symptoms, other than susceptibility to infection, but may be smaller and less healthy than unaffected puppies.
Details 2
Trapped Neutrophil Syndrome (TNS) is a mutation causing the dog's infection-fighting white blood cells to not be released from the bone marrow. The dog's immune system is unable to fight off infections and the dog eventually dies, usually when they are a few months old. Age of onset from birth, but symptoms may not be apparent until 7 months. An affected puppy may not show any specific symptoms, other than susceptibility to infection, but may be smaller and less healthy than unaffected puppies.
Published
Shearman J.R. and A.N. Wilton. A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. BMC Genomics 2011 12:258.
Published 2
Mizukami, K., Yabuki, A., Kawamichi, T., Chang, H.S., Rahman, M.M., Uddin, M.M., Kohyama, M., Yamato, O. : Real-time PCR genotyping assay for canine trapped neutrophil syndrome and high frequency of the mutant allele in Border collies. Vet J 195:260-1, 2013. Pubmed reference: 22795605. DOI: 10.1016/j.tvjl.2012.06.014.
Published 3
Mizukami, K., Yabuki, A., Kohyama, M., Kushida, K., Rahman, M.M., Uddin, M.M., Sawa, M., Yamato, O. : Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016. Pubmed reference: 27387721. DOI: 10.1016/j.tvjl.2016.05.004.
Body/System/Process
Blood
Inheritance
AR
Gene Name Text
vacuolar protein sorting 13 homolog B (yeast)
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