KDM2B-associated paunch calf syndrome in Marchigiana cattle.
PCS
bovine
genetic diseases
introgression
Journal
Journal of veterinary internal medicine
ISSN: 1939-1676
Titre abrégé: J Vet Intern Med
Pays: United States
ID NLM: 8708660
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
28
02
2020
revised:
10
04
2020
accepted:
10
04
2020
pubmed:
10
6
2020
medline:
11
3
2021
entrez:
10
6
2020
Statut:
ppublish
Résumé
Chianina, Romagnola, and Marchigiana are the 3 most important Italian breeds of cattle raised in the Apennine Mountains. Inherited disorders have been reported in the Chianina and Romagnola breeds but not in the Marchigiana breed. Recently, a case resembling recessively inherited KDM2B-associated paunch calf syndrome (PCS) in Romagnola cattle was identified in Marchigiana cattle. To characterize the features of the observed congenital anomaly, evaluate its possible genetic etiology, and determine the prevalence of the deleterious allele in the Marchigiana population. A single stillborn Marchigiana calf was referred for clinicopathological examination because of the presence of PCS-like morphological lesions. The animal was necropsied and the calf and its parents were genotyped. A PCR-based direct gene test was applied to determine the KDM2B genotype and 114 Marchigiana bulls were genotyped. The pathological phenotype included facial deformities, enlarged fluid-filled abdomen, and hepatic fibrosis. The affected animal was the offspring of consanguineous mating and homozygous presence of the KDM2B missense variant was confirmed. Both parents were heterozygous for KDM2B and the prevalence of carriers in a selected population of Marchigiana bulls was <2%. The characteristic malformations and genetic findings were consistent with the diagnosis of PCS and provide evidence that the deleterious KDM2B variant initially detected in Romagnola cattle also occurs in the Marchigiana breed.
Sections du résumé
BACKGROUND
BACKGROUND
Chianina, Romagnola, and Marchigiana are the 3 most important Italian breeds of cattle raised in the Apennine Mountains. Inherited disorders have been reported in the Chianina and Romagnola breeds but not in the Marchigiana breed. Recently, a case resembling recessively inherited KDM2B-associated paunch calf syndrome (PCS) in Romagnola cattle was identified in Marchigiana cattle.
HYPOTHESIS/OBJECTIVES
OBJECTIVE
To characterize the features of the observed congenital anomaly, evaluate its possible genetic etiology, and determine the prevalence of the deleterious allele in the Marchigiana population.
ANIMALS
METHODS
A single stillborn Marchigiana calf was referred for clinicopathological examination because of the presence of PCS-like morphological lesions.
METHODS
METHODS
The animal was necropsied and the calf and its parents were genotyped. A PCR-based direct gene test was applied to determine the KDM2B genotype and 114 Marchigiana bulls were genotyped.
RESULTS
RESULTS
The pathological phenotype included facial deformities, enlarged fluid-filled abdomen, and hepatic fibrosis. The affected animal was the offspring of consanguineous mating and homozygous presence of the KDM2B missense variant was confirmed. Both parents were heterozygous for KDM2B and the prevalence of carriers in a selected population of Marchigiana bulls was <2%.
CONCLUSIONS AND CLINICAL IMPORTANCE
CONCLUSIONS
The characteristic malformations and genetic findings were consistent with the diagnosis of PCS and provide evidence that the deleterious KDM2B variant initially detected in Romagnola cattle also occurs in the Marchigiana breed.
Identifiants
pubmed: 32515858
doi: 10.1111/jvim.15789
pmc: PMC7379006
doi:
Substances chimiques
Jumonji Domain-Containing Histone Demethylases
EC 1.14.11.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1657-1661Informations de copyright
© 2020 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.
Références
Meat Sci. 2008 Oct;80(2):389-95
pubmed: 22063344
Genomics. 2008 Dec;92(6):474-7
pubmed: 18786632
PLoS One. 2012;7(9):e45634
pubmed: 23029151
Nat Genet. 2008 Apr;40(4):449-54
pubmed: 18344998
J Anim Sci. 2013 Jun;91(6):2596-604
pubmed: 23519731
J Vet Intern Med. 2020 Jul;34(4):1657-1661
pubmed: 32515858
PLoS One. 2014 Oct 27;9(10):e110628
pubmed: 25347398
J Vet Diagn Invest. 1995 Oct;7(4):569-72
pubmed: 8580190
Vet J. 2013 Feb;195(2):238-40
pubmed: 22627047
BMC Vet Res. 2012 Oct 09;8:186
pubmed: 23046865
Anim Genet. 2014 Apr;45(2):157-70
pubmed: 24372556
Genet Sel Evol. 2015 Nov 30;47:94
pubmed: 26620491
Vet Rec. 2009 May 30;164(22):693-4
pubmed: 19483213
Vet Pathol. 2002 Jan;39(1):143-5
pubmed: 12102208
Vet J. 2014 Jun;200(3):459-61
pubmed: 24792452
Dtsch Tierarztl Wochenschr. 2006 Sep;113(9):351-4
pubmed: 17009813