Deutsch
Hrvatski
Русский
Português
Bengal Progressive Retinal Atrophy
| Acronym: | b-PRA, PRA-b |
| Gene: | KIF3B |
| Mutation: | c.1000G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Progressive Retinal Atrophy (PRA) is a genetic eye disorder, which belongs to blinding retinal degenerative diseases. Three distinct inherited forms of progressive retinal atrophy (PRA) have been documented in domestic cats so far with different onsets and different modes of inheritance. The type of PRA specific to Bengal cats is caused by a mutation in the KIF3B gene that is part of a kinesin family (KIF) genes encoding a superfamily of microtubule-based molecular motors that transport intracellular cargo. Defect in that protein leads to impaired rhodopsin trafficking and mislocalization of photoreceptor inner segments in peripheral and central areas of the eye. The disease is characterized by early onset, as early as 8 weeks of age, and rapid progression to blindness within the first year of the life of a cat.
This type of progressive retinal atrophy found in Bengal cats is inherited as an autosomal recessive trait meaning both mutated KIF3B genes are required for the disease to develop. Cats with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Since there is no cure for PRA, the only way to prevent it is early detection by genetic testing that can help breeders in selecting future mating pairs.
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:
Cogné, B., Latypova, X., Senaratne, L., Martin, L., Koboldt, D. C., Kellaris, G., Fievet, L., Le Meur, G., Caldari, D., Debray, D., Nizon, M., Frengen, E., Bowne, S. J., 99 Lives Consortium, Cadena, E. L., Daiger, S. P., Bujakowska, K. M., Pierce, E. A., Gorin, M., Katsanis, N., … Isidor, B. (2020). Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. American journal of human genetics, 106(6), 893–904. https://doi.org/10.1016/j.ajhg.2020.04.005
Ofri, R., Reilly, C. M., Maggs, D. J., Fitzgerald, P. G., Shilo-Benjamini, Y., Good, K. L., Grahn, R. A., Splawski, D. D., Lyons, L. A. (2015). Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats. Investigative ophthalmology & visual science, 56(9), 5299–5308. https://doi.org/10.1167/iovs.15-16585