Peer-reviewed veterinary case report
Bullmastiff with albinism caused by new SLC45A2 gene deletion
By Caduff, M et al.·Published in Animal genetics·2017·Institute of Genetics·View original on PubMed →
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Original publication title: A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.
- Species:
- dog
Plain-English summary
A Bullmastiff was found to have oculocutaneous albinism, which means he had a lack of pigment in his skin and eyes. Researchers discovered a specific genetic change in the SLC45A2 gene that likely caused this condition. This genetic change was unique to this dog and was confirmed through testing. The study suggests that this genetic variant is responsible for the albinism seen in this Bullmastiff, but it was not found in other unrelated dogs.
People also search for: Bullmastiff albinism · dog skin and eye problems · genetic testing for dog albinism
Abstract
Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. In dog, two independent SLC45A2 variants are known that cause oculocutaneous albinism in Doberman Pinschers and several small dog breeds respectively. For the present study, we investigated a Bullmastiff with oculocutaneous albinism. The affected dog was highly inbred and resulted from the mating of a sire to its own grandmother. We obtained whole genome sequence data from the affected dog and searched specifically for variants in candidate genes known to cause albinism. We detected a single base deletion in exon 6 of the SLC45A2 gene (NM_001037947.1:c.1287delC) that has not been reported thus far. This deletion is predicted to result in an early premature stop codon. It was confirmed by Sanger sequencing and perfectly co-segregated with the phenotype in the available family members. We genotyped 174 unrelated dogs from diverse breeds, all of which were homozygous wildtype. We therefore suggest that SLC45A2:c.1287delC causes the observed oculocutaneous albinism in the affected Bullmastiff.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/28737247/