Peer-reviewed veterinary case report
Glaucoma in Basset Hound and Basset Fauve linked to ADAMTS17 gene
By Oliver, James A C et al.·Published in PloS one·2015·Department of Canine Genetics Research, United Kingdom·View original on PubMed →
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Original publication title: Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog.
- Species:
- dog
Plain-English summary
A group of Basset Hounds and Basset Fauve de Bretagne dogs were found to have a genetic mutation linked to primary open angle glaucoma (POAG), which can cause vision problems. In the affected Basset Hounds, a specific deletion in a gene was identified, while the Basset Fauve de Bretagne dogs had a different mutation that changes an important protein. Testing showed that these mutations were not present in unaffected dogs of the same breeds, suggesting a strong link to the disease. Understanding these genetic factors can help in diagnosing and managing glaucoma in these breeds.
People also search for: Basset Hound glaucoma symptoms · Basset Fauve de Bretagne eye problems · dog genetic testing for glaucoma
Abstract
PURPOSE: Mutations in ADAMTS10 (CFA20) have previously been associated with primary open angle glaucoma (POAG) in the Beagle and Norwegian Elkhound. The closely related gene, ADAMTS17, has also been associated with several different ocular phenotypes in multiple breeds of dog, including primary lens luxation and POAG. We investigated ADAMTS17 as a candidate gene for POAG in the Basset Hound and Basset Fauve de Bretagne dog breeds. METHODS: We performed ADAMTS17 exon resequencing in three Basset Hounds and three Basset Fauve de Bretagne dogs with POAG. Identified variants were genotyped in additional sample cohorts of both breeds and dogs of other breeds to confirm their association with disease. RESULTS: All affected Basset Hounds were homozygous for a 19 bp deletion in exon 2 that alters the reading frame and is predicted to lead to a truncated protein. Fifty clinically unaffected Basset Hounds were genotyped for this mutation and all were either heterozygous or homozygous for the wild type allele. Genotyping of 223 Basset Hounds recruited for a different study revealed a mutation frequency of 0.081 and predicted frequency of affected dogs in the population to be 0.007. Based on the entire genotyping dataset the association statistic for the POAG-associated deletion was p = 1.26 x 10-10. All affected Basset Fauve de Bretagne dogs were homozygous for a missense mutation in exon 11 causing a glycine to serine amino acid substitution (G519S) in the disintegrin-like domain of ADAMTS17 which is predicted to alter protein function. Unaffected Basset Fauve de Bretagne dogs were either heterozygous for the mutation (5/24) or homozygous for the wild type allele (19/24). Based on the entire genotyping dataset the association statistic for the POAG-associated deletion was p = 2.80 x 10-7. Genotyping of 85 dogs of unrelated breeds and 90 dogs of related breeds for this variant was negative. CONCLUSION: This report documents strong associations between two independent ADAMTS17 mutations and POAG in two different dog breeds.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/26474315/