Renal dysplasia in grey Alpine breed cattle unrelated to <i>CLDN16</i> mutations

Testoni, S.; Mazzariol, Sandro; Drögemüller, Cord; Piffer, Christian; Aresu, Luca; Gentile, Arcangelo

doi:10.1136/vr.100209

Cited by 5 publications

(8 citation statements)

References 13 publications

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“…1). The animals displayed similar clinical signs as described for the affected twins [16], whereas the overgrowth of hooves was noticed only in case 3 (Fig. 4).…”

Section: Resultssupporting

confidence: 69%

“…In a previous report [16] the authors described kidney abnormalities in two eight months old female Alpine Grey (better known as Tyrolean Grey) twin cattle presenting a number of signs: growth retardation, overgrowth of hooves, gradual loss of weight and impaired skeletal development, despite a normal or only slightly decreased appetite and intense vitamin integration.…”

Section: Introductionmentioning

confidence: 99%

“…The observed renal syndrome in Tyrolean Grey cattle resembled inherited renal tubular dysplasia in Japanese Black cattle. Despite phenotypic similarities, no mutation in CLDN16 was identified [16]. Therefore, the aim of this study was to use whole genome sequencing to unravel the genetic etiology of this condition.…”

Section: Introductionmentioning

confidence: 99%

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A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

Murgiano

Jagannathan

Piffer³

et al. 2016

BMC Vet Res

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BackgroundRenal syndromes are occasionally reported in domestic animals. Two identical twin Tyrolean Grey calves exhibited weight loss, skeletal abnormalities and delayed development associated with kidney abnormalities and formation of uroliths. These signs resembled inherited renal tubular dysplasia found in Japanese Black cattle which is associated with mutations in the claudin 16 gene. Despite demonstrating striking phenotypic similarities, no obvious presence of pathogenic variants of this candidate gene were found. Therefore further analysis was required to decipher the genetic etiology of the condition.ResultsThe family history of the cases suggested the possibility of an autosomal recessive inheritance. Homozygosity mapping combined with sequencing of the whole genome of one case detected two associated non-synonymous private coding variants: A homozygous missense variant in the uncharacterized KIAA2026 gene (g.39038055C > G; c.926C > G), located in a 15 Mb sized region of homozygosity on BTA 8; and a homozygous 1 bp deletion in the molybdenum cofactor sulfurase (MOCOS) gene (g.21222030delC; c.1881delG and c.1782delG), located in an 11 Mb region of homozygosity on BTA 24. Pathogenic variants in MOCOS have previously been associated with inherited metabolic syndromes and xanthinuria in different species including Japanese Black cattle. Genotyping of two additional clinically suspicious cases confirmed the association with the MOCOS variant, as both animals had a homozygous mutant genotype and did not show the variant KIAA2026 allele. The identified genomic deletion is predicted to be highly disruptive, creating a frameshift and premature termination of translation, resulting in severely truncated MOCOS proteins that lack two functionally essential domains. The variant MOCOS allele was absent from cattle of other breeds and approximately 4% carriers were detected among more than 1200 genotyped Tyrolean Grey cattle. Biochemical urolith analysis of one case revealed the presence of approximately 95% xanthine.ConclusionsThe identified MOCOS loss of function variant is highly likely to cause the renal syndrome in the affected animals. The results suggest that the phenotypic features of the renal syndrome were related to an early onset form of xanthinuria, which is highly likely to lead to the progressive defects. The identification of the candidate causative mutation thus enables selection against this pathogenic variant in Tyrolean Grey cattle.Electronic supplementary materialThe online version of this article (doi:10.1186/s12917-016-0904-4) contains supplementary material, which is available to authorized users.

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“…1). The animals displayed similar clinical signs as described for the affected twins [16], whereas the overgrowth of hooves was noticed only in case 3 (Fig. 4).…”

Section: Resultssupporting

confidence: 69%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

Murgiano

Jagannathan

Piffer³

et al. 2016

BMC Vet Res

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“…5,6 These affected cattle showed dullness, retarded growth, hooves overgrowth, and renal disease. 6,7 As in the case presented here, affected Tyrolean grey cattle had azotemia consistent with renal disease. In addition, in our case, mild increase of plasma hepatic enzymes was noticed, suggesting mild hepatocellular injury.…”

Section: Discussionsupporting

confidence: 51%

“…In contrast, animals show urolithiasis caused by xanthine calculi. 7 This is because of the absence of the MOCOS enzyme that normally sulfurates the molybdenum cofactor of xanthine dehydrogenase and aldehyde oxidase, and is thus required for their enzymatic activities. On necropsy, affected animals display renal atrophy and dysplasia, as well as xanthinuric urolithiasis.…”

Section: Introductionmentioning

confidence: 99%

MOCOS‐associated renal syndrome in a Brown Swiss cattle

Jacinto,

Küchler,

Peters

et al. 2023

Veterinary Internal Medicne

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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.

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Diagnosis and treatment of unilateral renal dysplasia in a super dwarf reticulated python (Python reticulatus)

Scagnelli

Biswell

2022

Journal of Exotic Pet Medicine

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Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations

Cited by 5 publications

References 13 publications

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

MOCOS‐associated renal syndrome in a Brown Swiss cattle

Diagnosis and treatment of unilateral renal dysplasia in a super dwarf reticulated python (Python reticulatus)

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