Peer-reviewed veterinary case report
Genetic mutation linked to primary glaucoma in Norwegian Elkhounds
By Ahonen, Saija J et al.·Published in PloS one·2014·Department of Veterinary Biosciences and Research Programs Unit·View original on PubMed →
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Original publication title: A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucoma.
- Species:
- dog
Plain-English summary
A group of Norwegian Elkhounds was found to have a genetic mutation linked to primary glaucoma, a serious eye condition that can lead to blindness. This mutation was identified in a specific gene (ADAMTS10) and was present in many affected dogs but not in healthy ones. The discovery of this genetic cause allows for the development of a test that can help breeders avoid producing puppies at risk for this condition. Early detection and management are crucial for preventing vision loss in these dogs.
People also search for: Norwegian Elkhound glaucoma symptoms · dog eye problems treatment · genetic testing for dog glaucoma
Abstract
Primary glaucoma is one of the most common causes of irreversible blindness both in humans and in dogs. Glaucoma is an optic neuropathy affecting the retinal ganglion cells and optic nerve, and elevated intraocular pressure is commonly associated with the disease. Glaucoma is broadly classified into primary open angle (POAG), primary closed angle (PCAG) and primary congenital glaucoma (PCG). Human glaucomas are genetically heterogeneous and multiple loci have been identified. Glaucoma affects several dog breeds but only three loci and one gene have been implicated so far. We have investigated the genetics of primary glaucoma in the Norwegian Elkhound (NE). We established a small pedigree around the affected NEs collected from Finland, US and UK and performed a genome-wide association study with 9 cases and 8 controls to map the glaucoma gene to 750 kb region on canine chromosome 20 (praw = 4.93×10-6, pgenome = 0.025). The associated region contains a previously identified glaucoma gene, ADAMTS10, which was subjected to mutation screening in the coding regions. A fully segregating missense mutation (p.A387T) in exon 9 was found in 14 cases and 572 unaffected NEs (pFisher = 3.5×10-27) with a high carrier frequency (25.3%). The mutation interrupts a highly conserved residue in the metalloprotease domain of ADAMTS10, likely affecting its functional capacity. Our study identifies the genetic cause of primary glaucoma in NEs and enables the development of a genetic test for breeding purposes. This study establishes also a new spontaneous canine model for glaucoma research to study the ADAMTS10 biology in optical neuropathy.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/25372548/