Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle

Jacinto, Joana G. P.; Sbarra, F.; Quaglia, Andrea; Gentile, Arcangelo; Drögemüller, Cord

doi:10.1016/j.animal.2022.100569

Cited by 1 publication

(2 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our report describes a homozygous MOCOS mutant case associated with renal syndrome in Brown Swiss cattle, confirming an identical genetic etiology for a disorder known to exist in Tyrolean grey cattle 5 . Thus, this report provides an example of a recessive hereditary defect that occurs across breeds as previously observed in other recessively inherited diseases in cattle 1,2,10,11 . It is possible that the origin of this rare disease‐causing MOCOS variant in the Brown Swiss breed is because of either accidental crossbreeding or targeted introgression of Tyrolean grey cattle, a closely related Alpine breed known as Grauvieh in Switzerland.…”

Section: Discussionsupporting

confidence: 82%

“…5 Thus, this report provides an example of a recessive hereditary defect that occurs across breeds as previously observed in other recessively inherited diseases in cattle. 1,2,10,11 It is possible that the origin of this rare disease-causing MOCOS variant in the Brown Swiss breed is because of either accidental crossbreeding or targeted introgression of Tyrolean grey cattle, a closely related Alpine breed known as Grauvieh in Switzerland. Alternatively, it may indicate a very ancient origin of the derived allele, before the formation of these modern breeds.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

MOCOS‐associated renal syndrome in a Brown Swiss cattle

Jacinto,

Küchler,

Peters

et al. 2023

Veterinary Internal Medicne

View full text Add to dashboard Cite

BackgroundA recessive form of MOCOS‐associated xanthinuria type II is described in Tyrolean grey cattle. A similar case was identified in a 5‐month‐old Brown Swiss calf with hoof overgrowth, rough coat, urine sediment, and pneumonia.Hypothesis/ObjectivesTo characterize the disease phenotype, to evaluate its genetic etiology, and to determine the prevalence of the deleterious allele in the Brown Swiss population.AnimalsAn affected calf, its parents, and 65 441 Swiss dairy cattle.MethodsThe affected animal was clinically examined and necropsied. Microarray genotyping was used to determine the genotypes and to assess the frequency of the MOCOS allele in a Brown Swiss control cohort.ResultsUltrasonography revealed hyperechoic renal pyramids with multifocal distal shadowing and echogenic sediment in the urinary bladder. Necropsy revealed suppurative bronchopneumonia and urolithiasis. Histology revealed numerous nephroliths with multifocal chronic lymphohistiocytic interstitial infiltrates, fibrosis, tubular degeneration, chronic multifocal glomerulonephritis with sclerosis, and bilateral hydronephrosis. Dysplastic changes were observed in the corium of the claw and the cornea. Genetic testing identified the homozygous presence of a known MOCOS frameshift variant in the case. Both parents were heterozygous and the prevalence of carriers in genotyped Brown Swiss cattle was 1.4% (342/24337).Conclusions and Clinical ImportanceThe findings were consistent with the diagnosis of a recessive renal syndrome similar to xanthinuria type II described in Tyrolean grey cattle. The prevalence of the deleterious MOCOS allele is low in the Brown Swiss breed. However, mating of carriers should be avoided to prevent further losses.

show abstract

Section: Discussionsupporting

confidence: 82%