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.

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