KDM2B‐associated paunch calf syndrome in Marchigiana cattle
Abstract 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...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-07-01
|
| Series: | Journal of Veterinary Internal Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1111/jvim.15789 |
| _version_ | 1819211668621623296 |
|---|---|
| author | Leonardo Murgiano Gianfranco Militerno Fiorella Sbarra Cord Drögemüller Joana G. P. Jacinto Arcangelo Gentile Marilena Bolcato |
| author_facet | Leonardo Murgiano Gianfranco Militerno Fiorella Sbarra Cord Drögemüller Joana G. P. Jacinto Arcangelo Gentile Marilena Bolcato |
| author_sort | Leonardo Murgiano |
| collection | DOAJ |
| description | Abstract 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 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 A single stillborn Marchigiana calf was referred for clinicopathological examination because of the presence of PCS‐like morphological lesions. 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 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 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. |
| first_indexed | 2024-12-23T06:30:44Z |
| format | Article |
| id | doaj.art-f426b9f7a9e242e3b5d261d372278b43 |
| institution | Directory Open Access Journal |
| issn | 0891-6640 1939-1676 |
| language | English |
| last_indexed | 2024-12-23T06:30:44Z |
| publishDate | 2020-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Veterinary Internal Medicine |
| spelling | doaj.art-f426b9f7a9e242e3b5d261d372278b432022-12-21T17:56:57ZengWileyJournal of Veterinary Internal Medicine0891-66401939-16762020-07-013441657166110.1111/jvim.15789KDM2B‐associated paunch calf syndrome in Marchigiana cattleLeonardo Murgiano0Gianfranco Militerno1Fiorella Sbarra2Cord Drögemüller3Joana G. P. Jacinto4Arcangelo Gentile5Marilena Bolcato6Department of Clinical Sciences & Advanced Medicine University of Pennsylvania Philadelphia Pennsylvania USADepartment of Veterinary Medical Sciences University of Bologna Bologna ItalyNational Association of Italian Beef‐Cattle Breeders Perugia ItalyInstitute of Genetics, Vetsuisse Faculty, University of Bern Bern SwitzerlandDepartment of Veterinary Medical Sciences University of Bologna Bologna ItalyDepartment of Veterinary Medical Sciences University of Bologna Bologna ItalyDepartment of Veterinary Medical Sciences University of Bologna Bologna ItalyAbstract 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 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 A single stillborn Marchigiana calf was referred for clinicopathological examination because of the presence of PCS‐like morphological lesions. 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 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 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.https://doi.org/10.1111/jvim.15789bovinegenetic diseasesintrogressionPCS |
| spellingShingle | Leonardo Murgiano Gianfranco Militerno Fiorella Sbarra Cord Drögemüller Joana G. P. Jacinto Arcangelo Gentile Marilena Bolcato KDM2B‐associated paunch calf syndrome in Marchigiana cattle Journal of Veterinary Internal Medicine bovine genetic diseases introgression PCS |
| title | KDM2B‐associated paunch calf syndrome in Marchigiana cattle |
| title_full | KDM2B‐associated paunch calf syndrome in Marchigiana cattle |
| title_fullStr | KDM2B‐associated paunch calf syndrome in Marchigiana cattle |
| title_full_unstemmed | KDM2B‐associated paunch calf syndrome in Marchigiana cattle |
| title_short | KDM2B‐associated paunch calf syndrome in Marchigiana cattle |
| title_sort | kdm2b associated paunch calf syndrome in marchigiana cattle |
| topic | bovine genetic diseases introgression PCS |
| url | https://doi.org/10.1111/jvim.15789 |
| work_keys_str_mv | AT leonardomurgiano kdm2bassociatedpaunchcalfsyndromeinmarchigianacattle AT gianfrancomiliterno kdm2bassociatedpaunchcalfsyndromeinmarchigianacattle AT fiorellasbarra kdm2bassociatedpaunchcalfsyndromeinmarchigianacattle AT corddrogemuller kdm2bassociatedpaunchcalfsyndromeinmarchigianacattle AT joanagpjacinto kdm2bassociatedpaunchcalfsyndromeinmarchigianacattle AT arcangelogentile kdm2bassociatedpaunchcalfsyndromeinmarchigianacattle AT marilenabolcato kdm2bassociatedpaunchcalfsyndromeinmarchigianacattle |