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  3. Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf?
 

Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf?

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BORIS DOI
10.7892/boris.138894
Publisher DOI
10.1111/vde.12827
PubMed ID
31908106
Description
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.
Date of Publication
2020-06
Publication Type
Article
Subject(s)
500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health
Language(s)
en
Contributor(s)
Brunner, Magdalena Anna Theresa
Institut für Genetik
Berenguer Veiga, Inês Margaridaorcid-logo
Institut für Tierpathologie (ITPA)
Department of Infectious Diseases and Pathobiology (DIP)
Niggeler, Allegra
Institut für Genetik
Häfliger, Irene Monika
Institut für Genetik
Stettler, Manuela Hanna
Departement klinische Veterinärmedizin, Wiederkäuerklinik
Meylan, Mireille
Departement klinische Veterinärmedizin, Wiederkäuerklinik
Welle, Monika Maria
Institut für Tierpathologie (ITPA)
Drögemüller, Cordorcid-logo
Institut für Genetik
Department of Clinical Research and Veterinary Public Health (DCR-VPH)
Additional Credits
Departement klinische Veterinärmedizin, Wiederkäuerklinik
Institut für Tierpathologie (ITPA)
Institut für Genetik
Series
Veterinary dermatology
Publisher
Wiley
ISSN
1365-3164
Access(Rights)
restricted
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