A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. / Jacinto, Joana G.P.; Häfliger, Irene M.; Veiga, Inês M.B.; Drögemüller, Cord; Agerholm, Jørgen S.
I: Journal of Veterinary Internal Medicine, Bind 34, Nr. 6, 2020, s. 2800-2807.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex
AU - Jacinto, Joana G.P.
AU - Häfliger, Irene M.
AU - Veiga, Inês M.B.
AU - Drögemüller, Cord
AU - Agerholm, Jørgen S.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - cattle
KW - KRT5
KW - precision medicine
KW - skin fragility
KW - WGS
U2 - 10.1111/jvim.15943
DO - 10.1111/jvim.15943
M3 - Journal article
C2 - 33135329
AN - SCOPUS:85094645538
VL - 34
SP - 2800
EP - 2807
JO - Journal of Veterinary Internal Medicine
JF - Journal of Veterinary Internal Medicine
SN - 0891-6640
IS - 6
ER -
ID: 251193655