Oculocutanious albinism

Gene: HPS5

Transmission: Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, HPS5 gene (splicing error) ; c.2571-1 G>A, intron 16, chr.D1.

Medical system: Ocular, dermal

Breeds: Donskoy

Age of onset of symptoms: From birth

The oculocutaneous albinism reported in the Donskoy cat breed is caused by a mutation in the HPS5 gene.  Clinical presentation includes hypopigmentation with light-brown skin, reduced visual acuity with yellow irises and red-appearing eyes (“pink eye” phenotype), and a slightly longer-than-normal bleeding time.  The mutation and oculocutaneous phenotype were associated with a particular inbred pedigree; the frequency of the HPS5 mutation in the general Donskoy population has not been characterized.

References:

OMIA link: [2116-9685]

Mériot M, Hitte C, Rimbault M, et al. (2020) Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene. Pigment Cell Melanoma Res 33:814-825. [pm/32558164]

Contributed by: Maria Yuni Valerio et Sara Mai Faucher, Class of 2028, Faculty of Veterinary Medicine, University of Montreal. (Translation DWS).