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

Brunner, Magdalena A. T.; Berenguer Veiga, Inês Margarida; Niggeler, Allegra; Häfliger, Irene M.; Stettler, Manuela; Meylan, Mireille; Welle, Monika; Drögemüller, Cord (2020). Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf? (In Press). Veterinary dermatology Wiley 10.1111/vde.12827

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Clinic for Ruminants
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
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)
Graduate Schools > Graduate School for Cellular and Biomedical Sciences (GCB)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Brunner, Magdalena Anna Theresa; Berenguer Veiga, Inês Margarida; Niggeler, Allegra; Häfliger, Irene Monika; Stettler, Manuela Hanna; Meylan, Mireille; Welle, Monika Maria 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:

1365-3164

Publisher:

Wiley

Language:

English

Submitter:

Nathalie Viviane Zollinger

Date Deposited:

22 Jan 2020 14:35

Last Modified:

10 Feb 2020 09:53

Publisher DOI:

10.1111/vde.12827

PubMed ID:

31908106

BORIS DOI:

10.7892/boris.138894

URI:

https://boris.unibe.ch/id/eprint/138894

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