Open AccessA de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex
Author(s) -
Jacinto Joana G. P.,
Häfliger Irene M.,
Veiga Inês M. B.,
Drögemüller Cord,
Agerholm Jørgen S.
Publication year - 2020
Publication title -
journal of veterinary internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.356
H-Index - 103
eISSN - 1939-1676
pISSN - 0891-6640
DOI - 10.1111/jvim.15943
Subject(s) - epidermolysis bullosa simplex , medicine , epidermolysis bullosa , mutation , dermatology , bulla (seal) , pathology , anatomy , genetics , biology , lung , gene
A 6‐day‐old Belgian Blue‐Holstein calf was referred because of a syndrome resembling epidermolysis bullosa simplex (EBS). The clinical phenotype included irregular and differently sized erosions and ulcerations spread over the body, in particular on the limbs and over bone prominences, as well as in the nasal planum and oral mucosa. Blisters were easily induced by rubbing the skin. The skin lesions displayed a clear dermal‐epidermal separation at the level of the basal cell layer. Post mortem examination revealed erosions in the pharynx, proximal esophagus, and rumen. Whole‐genome sequencing revealed a heterozygous disruptive in‐frame deletion variant in KRT5 (c.534_536delCAA). Genotyping of both parents confirmed the variant as de novo mutation. Clinicopathological and genetic findings were consistent with the diagnosis of KRT5 ‐related EBS providing the second example of a spontaneous mutation causing epidermolysis bullosa in cattle.