GJB6 Missense Variant in a Labrador Retriever With Paw Pad Hyperkeratosis

This study identified a heterozygous missense variant in the GJB6 gene in a 2-year-old female Labrador Retriever with paw pad hyperkeratosis, a condition characterized by thickened epidermis on the paw pads. The variant, XM_038573516.1:c.223C>T, was not present in the dog's parents or 88 other Labrador Retrievers, indicating it likely arose from a de novo mutation. Histopathological examination showed moderate to severe orthokeratotic hyperkeratosis. This is the first report of a pathogenic GJB6 variant in a Labrador Retriever, highlighting differences in phenotype compared to human Clouston syndrome associated with GJB6 variants. Further research is needed to explore these interspecies phenotypic differences.