Peer-reviewed veterinary case report
Genetic cause of deafness in Beauceron puppies identified
By Abitbol, Marie et al.·Published in Animal genetics·2023·Univ Lyon, France·View original on PubMed →
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Original publication title: A CDH23 missense variant in Beauceron dogs with non-syndromic deafness.
- Species:
- dog
Plain-English summary
A group of Beauceron puppies was found to have hearing loss that wasn't related to their coat color. Researchers discovered a specific genetic change (CDH23:c.700C>T) that causes this type of deafness, which is inherited in a recessive manner. This means that both parents must carry the gene for a puppy to be affected. A genetic test can identify carriers of this gene, helping breeders avoid mating dogs that could produce deaf puppies. With this information, owners can make informed decisions about breeding and health management for their dogs.
People also search for: Beauceron puppy deafness · genetic test for dog hearing loss · how to prevent deaf puppies in Beaucerons
Abstract
Congenital coat-colour-related deafness is common among certain canine breeds especially those exhibiting extreme white spotting or merle patterning. We identified a non-syndromic deafness in Beauceron dogs characterised by a bilateral hearing loss in puppies that is not linked to coat colour. Pedigree analysis suggested an autosomal recessive transmission. By combining homozygosity mapping with whole genome sequencing and variant filtering in affected dogs we identified a CDH23:c.700C>T variant. The variant, located in the CHD23 (cadherin related 23) gene, was predicted to induce a CDH23:p.(Pro234Ser) change in the protein. Proline-234 of CDH23 protein is highly conserved across different vertebrate species. In silico tools predicted the CDH23:p.(Pro234Ser) change to be deleterious. CDH23 encodes a calcium-dependent transmembrane glycoprotein localised near the tips of hair-cell stereocilia in the mammalian inner ear. Intact function of these cilia is mandatory for the transformation of the acoustical wave into a neurological signal, leading to sensorineural deafness when impaired. By genotyping a cohort of 90 control Beauceron dogs sampled in France, we found a 3.3% carrier frequency. The CDH23:c.[700C>T] allele is easily detectable with a genetic test to avoid at-risk matings.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/36308003/