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.

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex / Jacinto J.G.P.; Hafliger I.M.; Veiga I.M.B.; Drogemuller C.; Agerholm J.S.. - In: JOURNAL OF VETERINARY INTERNAL MEDICINE. - ISSN 0891-6640. - ELETTRONICO. - 34:6(2020), pp. 2800-2807. [10.1111/jvim.15943]

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

Jacinto J. G. P.
Primo
;
2020

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.
2020
A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex / Jacinto J.G.P.; Hafliger I.M.; Veiga I.M.B.; Drogemuller C.; Agerholm J.S.. - In: JOURNAL OF VETERINARY INTERNAL MEDICINE. - ISSN 0891-6640. - ELETTRONICO. - 34:6(2020), pp. 2800-2807. [10.1111/jvim.15943]
Jacinto J.G.P.; Hafliger I.M.; Veiga I.M.B.; Drogemuller C.; Agerholm J.S.
File in questo prodotto:
File Dimensione Formato  
jvim.15943.pdf

accesso aperto

Tipo: Versione (PDF) editoriale
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione 6.72 MB
Formato Adobe PDF
6.72 MB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/794747
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 3
  • ???jsp.display-item.citation.isi??? 3
social impact