KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex.

ABSTRACT: Epidermolysis bullosa (EB) is a group of blistering disorders that includes several subtypes, classified according to their level of cleavage. Typical clinical signs are blisters and erosions resulting from minimal trauma. The disease has been described in many mammalian species and pathogenic variants in at least 18 different genes have been identified. In the present study, we investigated a Cardigan Welsh Corgi with congenital clinical signs consistent with epidermolysis bullosa. The puppy had blisters and erosions on the paw pads, and the oral mucosa. Histologic examination demonstrated the typical clefting between the dermis and epidermis and confirmed the clinical suspicion. We obtained whole genome sequencing data from the affected puppy and searched for variants in candidate genes

SUBMITTER: Kiener S 

PROVIDER: S-EPMC9804678 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature