1. A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle.
- Author
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Jacinto, Joana G. P., Wohlsein, Peter, Häfliger, Irene M., Karl, Michael, Pohlers, Michael, Plobner, Lutz, Grünberg, Walter, and Drögemüller, Cord
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MISSENSE mutation , *CATTLE diseases , *FIBRINOGEN , *LIVER enzymes , *GRANULAR materials , *FOOT & mouth disease - Abstract
Hepatic fibrinogen storage disease (HFSD) was diagnosed in a 5‐month‐old Wagyu calf with a history of recurrent respiratory disease. It was characterized by lethargy, dehydration, acidemia, and increased liver enzyme activities. Histologically, disseminated hepatocytes were swollen and showed a single, sharply demarcated, faintly eosinophilic cytoplasmic inclusion with a ground‐glass appearance, with the nucleus in an eccentric position. Cytoplasmic inclusions did not stain with the periodic acid‐Schiff (PAS) reaction. Using a rabbit polyclonal antibody against fibrinogen, the cytoplasmic vacuoles in the hepatocytes stained intensely. Electron microscopy disclosed hepatocytes with membrane‐bound cytoplasmic inclusions filled with fine granular material interspersed with a few coarse‐grained electron‐dense granules. A trio whole‐genome sequencing approach identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%. This is a report of a DGKG‐related recessive inherited disorder in cattle and adds DGKG to the list of candidate genes for HFSD in other species. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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