GJB6 Missense Variant in a Labrador Retriever With Paw Pad Hyperkeratosis

A study investigated a female Labrador Retriever with paw pad hyperkeratosis, revealing a de novo heterozygous missense variant in the GJB6 gene, which encodes connexin 30, a component of the desmosome. This variant was absent in 1,664 unaffected control dogs and the dog's parents. In humans, GJB6 variants are linked to conditions like Clouston syndrome, characterized by alopecia, nail dystrophy, and palmoplantar hyperkeratosis. The dog's condition resembles Clouston syndrome, suggesting the GJB6 variant's role in its hyperkeratosis. The study also notes differences between human and canine manifestations, offering potential insights into GJB6's function.