Peer-reviewed veterinary case report
Gene variant linked to new type of progressive blindness in Hungarian
By Chew, Tracy et al.·Published in G3 (Bethesda, Md.)·2017·School of Life and Environmental Sciences, Australia·View original on PubMed →
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Original publication title: A Coding Variant in the Gene Bardet-Biedl Syndrome 4 () Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.
- Species:
- dog
Plain-English summary
A group of Hungarian Puli dogs was found to have progressive retinal atrophy, which causes gradual vision loss and can lead to blindness. Researchers identified a specific genetic change in these dogs that is linked to the condition, similar to a human disorder known as Bardet-Biedl syndrome. This genetic variant prevents the production of a protein that is important for eye health, leading to the degeneration of light-sensitive cells in the retina. Unfortunately, the affected dogs are likely to experience ongoing vision problems due to this condition.
People also search for: Hungarian Puli progressive retinal atrophy · dog vision loss genetic cause · Bardet-Biedl syndrome in dogs
Abstract
Progressive retinal atrophy is a common cause of blindness in the dog and affects >100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis pigmentosa, the canine disorder is clinically and genetically heterogeneous and the underlying cause remains unknown for many cases. We use a positional candidate gene approach to identify putative variants in the Hungarian Puli breed using genotyping data of 14 family-based samples (CanineHD BeadChip array, Illumina) and whole-genome sequencing data of two proband and two parental samples (Illumina HiSeq 2000). A single nonsense SNP in exon 2 of(c.58A > T, p.Lys20*) was identified following filtering of high quality variants. This allele is highly associated (= 3.425,= 103) and segregates perfectly with progressive retinal atrophy in the Hungarian Puli. In humans,is known to cause Bardet-Biedl syndrome which includes a retinitis pigmentosa phenotype. From the observed coding change we expect that no functional BBS4 can be produced in the affected dogs. We identified canine phenotypes comparable with-null mice including obesity and spermatozoa flagella defects. Knockout mice fail to form spermatozoa flagella. In the affected Hungarian Puli spermatozoa flagella are present, however a large proportion of sperm are morphologically abnormal and <5% are motile. This suggests that BBS4 contributes to flagella motility but not formation in the dog. Our results suggest a promising opportunity for studying Bardet-Biedl syndrome in a large animal model.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/28533336/