Animal Science, Department of


Document Type


Date of this Version



Transl. Anim. Sci. 2021.5:S1–S5


Open access.


Perosomus elumbis (PE) is a lethal, congenital defect marked by aplasia of the lumbar and sacral spine and spinal cord. Contracture of the hind limbs is also commonly observed in affected individuals. PE has been reported in many domestic species, with numerous case reports in Holstein cattle in the past two decades (Jones, 1999; Karakaya et al., 2013; Agerholm et al., 2014). The etiology of PE remains unknown. In one instance, a stillborn Holstein calf with PE was found to be infected with Bovine Viral Diarrhea Virus (BVDV) (Karakaya et al., 2013), and thus, it is possible that PE may be due to genetic and/or environmental factors. Recently, a stillborn Angus calf was diagnosed with PE following an accidental mother-son mating (Helms et al., 2020). BVDV was not detected in the affected Angus calf, dam, nor sire. Due to the relationship between the sire and dam, it was hypothesized that a novel, recessive genetic variant may be responsible for the development of PE in this Angus calf. The objective of this study was to use whole-genome sequencing to address this hypothesis and identify candidate variants for PE in this calf.