Peer-reviewed veterinary case report
Gene mutations linked to inherited cataracts in three dog breeds
By Mellersh, Cathryn S et al.·Published in Veterinary ophthalmology·2006·Centre for Preventive Medicine, United Kingdom·View original on PubMed →
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Original publication title: Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts.
- Species:
- dog
Plain-English summary
A Staffordshire Bull Terrier, Boston Terrier, and Australian Shepherd were found to have hereditary cataracts, which can lead to blindness. Researchers discovered mutations in a specific gene (HSF4) that are linked to cataracts in these breeds. Interestingly, the mutations affect the breeds differently; Staffordshire Bull Terriers and Boston Terriers have a recessive form of cataract, while the Australian Shepherd has a dominant form. This discovery allows for a simple diagnostic test to identify at-risk dogs and helps in managing the condition within these breeds.
People also search for: dog cataracts treatment · Staffordshire Bull Terrier eye problems · Boston Terrier hereditary cataracts · Australian Shepherd vision issues
Abstract
Cataracts are a leading cause of blindness in both dogs and humans. Mutations in several genes have been associated with inherited forms of human cataract, but no mutations have been identified as the cause of any form of canine inherited cataract. We have used a candidate gene approach to investigate 20 genes, known to be associated with cataract in humans, for their potential association with the development of hereditary cataract (HC) in dogs. We have identified mutations in the HSF4 gene in Staffordshire Bull Terriers, Boston Terriers and Australian Shepherds affected by HC. Interestingly, different mutations in this single gene may be causing a recessive form of cataract in Staffordshire Bull Terriers and Boston Terriers and a dominant cataract in Australian Shepherds. Identification of the mutations that cause HC in these three breeds provides a method of controlling the disease within populations at risk using a simple diagnostic test, and also establishes cataract in these breeds as models for their human counterparts.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/16939467/