Peer-reviewed veterinary case report
Genetic mutation linked to blindness in Shih Tzu dogs
By Urkasemsin, G et al.·Published in Animal genetics·2021·Department of Preclinic and Applied Animal Science·View original on PubMed →
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Original publication title: Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy.
- Species:
- dog
Plain-English summary
Three Shih Tzu dogs were diagnosed with progressive retinal atrophy (PRA), a genetic condition that leads to blindness due to the degeneration of light-sensitive cells in the eyes. Through testing, veterinarians found that these affected dogs had a specific mutation in the JPH2 gene, which is linked to retinal health. In contrast, unaffected Shih Tzu did not have this mutation. This discovery helps identify dogs at risk for PRA and could guide future breeding decisions to prevent the condition.
People also search for: Shih Tzu blindness symptoms · progressive retinal atrophy in dogs · JPH2 gene mutation Shih Tzu
Abstract
Progressive retinal atrophy (PRA), common autosomal recessive disorder affecting several dog breeds including Shih Tzu, is characterized by degeneration of photoreceptors leading to blindness. To identify PRA genetic variants, three affected and 15 unaffected Shih Tzu and 20 non-Shih Tzu were recruited. Dogs underwent ophthalmologic examination and electroretinography, revealing hallmark retina pathological changes and an abnormal electroretinography in all affected dogs but not in unaffected dogs. WGS was performed. Non-synonymous homozygous variants were searched in coding regions of genes involved in retinal diseases/development; the criterion was that variants should only be present in affected dogs and should be absent in both unaffected and 46 genomes of dogs (from an available evolutionary database). Only one out of the 109 identified variants is predicted to harbor a high-impact consequence, a nonsense c.452A>C (p.L151X) in the JPH2 gene. The genotype of JPH2 variant in all 38 dogs was determined with Sanger sequencing. All three affected dogs, but none of the 35 unaffected, were homozygous for the nonsense variant. JPH2 has been previously found to be expressed in several excitable cells/tissues including retina photoreceptors. Hence, JPH2 is a candidate gene for PRA in Shih Tzu.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/34231238/