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Feline Mucopolysaccharidosis type VII (MPS VII)
| Acronym: | MPS VII |
| Gene: | GUSB |
| Mutation: | c.1051G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Feline mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome in humans, is a rare lysosomal storage disorder, causing typically progressive skeletal and ocular abnormalities, caused by more than 50 different mutations in the β-glucuronidase gene (GUSB). In addition to the well-known human disorder, MPS VII also has been identified in several animal species including mice and dogs. Mucopolysaccharidosis VII also was reported in 4 domestic shorthairs (DSH) cats. However, only two cats have been studied at the molecular genetic level. Feline mucopolysaccharidosis type VII (MPS VII) is characterized by an early age of onset, dwarfism, facial dysmorphia, bone, and joint abnormalities, organomegaly, and neurological signs with variable degrees of severity.
Currently, MPS VII and other MPS disorders lack an efficient clinical treatment despite intense experimental investigations offering promising results with novel gene transfers, such as bone marrow transplantation, enzyme replacement treatment, and gene treatment. These treatments have demonstrated a great capacity to prevent many of the clinical features but once clinical signs occur, MPS VII is not reversible. Symptomatic treatment, pain alleviation, and physiotherapy can be offered before euthanasia is elected.
Feline mucopolysaccharidosis type VII (MPS VII) is caused by mutations in GUBS (β-glucuronidase) gene. It is inherited in an autosomal recessive manner. When mating two carriers (heterozygotes) at conception each kitten has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. A DNA test for known mutations in the GUSB gene causing mucopolysaccharidosis type VII (MPS VII) is available for all cat breeds. However, general screening is not recommended.
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:
Fyfe, J.C., Kurzhals, R.L., Lassaline, M.E., Henthorn, P.S., Alur, P.R., Wang, P., Wolfe, J.H., Giger, U., Haskins, M.E., Patterson, D.F., et al. (1999). Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. Genomics 58, 121–128.
Wang, P., Sorenson, J., Strickland, S., Mingus, C., Haskins, M.E., and Giger, U. (2015). Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene. J. Vet. Intern. Med. 29, 1022–1028.