
Testing of cats: Niemann-Pick disease, type C1
Related tests
- Combination House Cat and European Cat 2 Mucopolysaccharidosis I + Mucopolysaccharidosis VI + Mucopolysaccharidosis VII + Niemann-Pick disease, type C1 + Congenital Myotonia + Hyperlipoproteinaemia + Dihydropyrimidinase deficiency
Niemann-Pick disease, type C1
The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.
The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected kittens.
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References:
Somers, KL., Royals, MA., Carstea, ED., Rafi, MA., Wenger, DA., Thrall, MA. : Mutation analysis of feline Niemann-Pick C1 disease. Mol Genet Metab 79:99-103, 2003. Pubmed reference: 12809639.
Mauler, D.A., Gandolfi, B., Reinero, C.R., O'Brien, D.P., Spooner, J.L., Lyons, L.A. : Precision medicine in cats: Novel Niemann-Pick type C1 diagnosed by whole-genome sequencing. J Vet Intern Med 31:539-544, 2017. Pubmed reference: 28233346.