A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex

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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

Jacinto, JGP, Häfliger, IM, Veiga, IMB, Drögemüller, C & Agerholm, JS 2020, 'A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex', Journal of Veterinary Internal Medicine, bind 34, nr. 6, s. 2800-2807. https://doi.org/10.1111/jvim.15943

APA

Jacinto, J. G. P., Häfliger, I. M., Veiga, I. M. B., Drögemüller, C., & Agerholm, J. S. (2020). A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. Journal of Veterinary Internal Medicine, 34(6), 2800-2807. https://doi.org/10.1111/jvim.15943

Vancouver

Jacinto JGP, Häfliger IM, Veiga IMB, Drögemüller C, Agerholm JS. A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. Journal of Veterinary Internal Medicine. 2020;34(6):2800-2807. https://doi.org/10.1111/jvim.15943

Author

Jacinto, Joana G.P. ; Häfliger, Irene M. ; Veiga, Inês M.B. ; Drögemüller, Cord ; Agerholm, Jørgen S. / A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. I: Journal of Veterinary Internal Medicine. 2020 ; Bind 34, Nr. 6. s. 2800-2807.

Bibtex

@article{71b28e95b31d486faee070b880b3f31d,
title = "A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex",
abstract = "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.",
keywords = "cattle, KRT5, precision medicine, skin fragility, WGS",
author = "Jacinto, {Joana G.P.} and H{\"a}fliger, {Irene M.} and Veiga, {In{\^e}s M.B.} and Cord Dr{\"o}gem{\"u}ller and Agerholm, {J{\o}rgen S.}",
year = "2020",
doi = "10.1111/jvim.15943",
language = "English",
volume = "34",
pages = "2800--2807",
journal = "Journal of Veterinary Internal Medicine",
issn = "0891-6640",
publisher = "Wiley-Blackwell",
number = "6",

}

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