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. (2020). A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. Journal of veterinary internal medicine, 34(6), pp. 2800-2807. Wiley-Blackwell 10.1111/jvim.15943

[img]
Preview
Text
jvim.15943.pdf - Published Version
Available under License Creative Commons: Attribution (CC-BY).

Download (6MB) | Preview

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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Häfliger, Irene Monika; Berenguer Veiga, Inês Margarida and Drögemüller, Cord

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

0891-6640

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Cord Drögemüller

Date Deposited:

11 Nov 2020 10:08

Last Modified:

24 Feb 2021 08:15

Publisher DOI:

10.1111/jvim.15943

PubMed ID:

33135329

Uncontrolled Keywords:

KRT5 WGS cattle precision medicine skin fragility

BORIS DOI:

10.7892/boris.147770

URI:

https://boris.unibe.ch/id/eprint/147770

Actions (login required)

Edit item Edit item
Provide Feedback