
Testing of cats: Mucopolysaccharidosis VII
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
Mucopolysaccharidosis VII in domestic shorthaired cats
Mucopolysaccharidosis VII is a lysosomal storage disease in which mucopolysaccharides (glycosaminoglycans) accumulate due to a deficiency of the lysosomal enzyme beta-glucuronidase hydrolase. Affected cats show a wide range of signs of this disease: retarded growth, walking difficulties (inside rotation of the front paws, weight shifting to the front paws, reduced proprioception of the hind limbs, luxation of the kneecap), epileptic seizures, flat and broad head with small deformed ears, corneal clouding, enlarged abdomen or skin thickening and excessive skin peeling.
The disease is caused by a missense mutations c.1051G>A, c.[1423T>G;1426C>T] in the GUSB gene, which encodes beta-glucuronidase.
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:
Fyfe, J.C., Kurzhals, R.L., Lassaline, M.E., Henthorn, P.S., Alur, P.R.K., Wang, P., Wolfe, J.H., Giger, U., Haskins, M.E., Patterson, D.F., Sun, H.C., Jain, S., Yuhki, N. : Molecular basis of feline beta-glucuronidase deficiency: An animal model of mucopolysaccharidosis VII Genomics 58:121-128, 1999. Pubmed reference: 10366443