Journal article
Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf?
- Brunner MAT Vetsuisse Faculty, Institute of Genetics, University of Bern, Bremgartenstrasse 109a, Bern, 3012, Switzerland.
- Veiga IMB Vetsuisse Faculty, Institute of Animal Pathology, University of Bern, Länggassstrasse 122, Bern, 3012, Switzerland.
- Niggeler A Vetsuisse Faculty, Institute of Genetics, University of Bern, Bremgartenstrasse 109a, Bern, 3012, Switzerland.
- Häfliger IM Vetsuisse Faculty, Institute of Genetics, University of Bern, Bremgartenstrasse 109a, Bern, 3012, Switzerland.
- Stettler M Vetsuisse Faculty, Clinic for Ruminants, University of Bern, Bremgartenstrasse 109a, Bern, 3012, Switzerland.
- Meylan M Vetsuisse Faculty, Clinic for Ruminants, University of Bern, Bremgartenstrasse 109a, Bern, 3012, Switzerland.
- Welle M Vetsuisse Faculty, Institute of Animal Pathology, University of Bern, Länggassstrasse 122, Bern, 3012, Switzerland.
- Drögemüller C Vetsuisse Faculty, Institute of Genetics, University of Bern, Bremgartenstrasse 109a, Bern, 3012, Switzerland.
- 2020-01-08
Published in:
- Veterinary dermatology. - 2020
English
BACKGROUND
Genetic skin diseases in cattle are rare.
CLINICAL SUMMARY
A 7-week-old female Holstein calf was presented with epidermal lesions and alopecia in the caudal region of the ears and on the neck, as well as deep bilateral ulcerative lesions on the palmar aspect of the metacarpi and dorsal aspect of the right metacarpus. Clinical, pathological and histopathological examination of the calf was suggestive of a subepidermal vesicular dermatosis. Genetic analysis identified a de novo non-sense variant affecting the aspartate dehydrogenase domain containing (ASPDH) gene, which might be associated with the formation of subepidermal vesicles in this case.
CONCLUSION AND CLINICAL IMPORTANCE
The observed phenotype in the calf may represent a novel form of a vesicular skin disorder. Haploinsufficiency of the ASPDH gene might be considered as a possible cause.
Genetic skin diseases in cattle are rare.
CLINICAL SUMMARY
A 7-week-old female Holstein calf was presented with epidermal lesions and alopecia in the caudal region of the ears and on the neck, as well as deep bilateral ulcerative lesions on the palmar aspect of the metacarpi and dorsal aspect of the right metacarpus. Clinical, pathological and histopathological examination of the calf was suggestive of a subepidermal vesicular dermatosis. Genetic analysis identified a de novo non-sense variant affecting the aspartate dehydrogenase domain containing (ASPDH) gene, which might be associated with the formation of subepidermal vesicles in this case.
CONCLUSION AND CLINICAL IMPORTANCE
The observed phenotype in the calf may represent a novel form of a vesicular skin disorder. Haploinsufficiency of the ASPDH gene might be considered as a possible cause.
- Language
-
- English
- Open access status
- closed
- Identifiers
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- DOI 10.1111/vde.12827
- PMID 31908106
- Persistent URL
- https://sonar.ch/global/documents/460
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