Jacinto, JoanaJoanaJacintoWohlsein, PeterPeterWohlseinHäfliger, Irene MonikaIrene MonikaHäfligerKarl, MichaelMichaelKarlPohlers, MichaelMichaelPohlersPlobner, LutzLutzPlobnerGrünberg, WalterWalterGrünbergDrögemüller, CordCordDrögemüller0000-0001-9773-522X2024-10-252024-10-252023-09-08https://boris-portal.unibe.ch/handle/20.500.12422/169867Hepatic 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.en600 - Technology::630 - Agriculture500 - Science::590 - Animals (Zoology)600 - Technology::610 - Medicine & healtharticle10.48350/1861803768146910.1111/jvim.16865