OMIA 001722-9913 : Lethal multi-organ developmental dysplasia in Bos taurus
Murgiano et al. (2020) reported the same variant as being causal in an affected Marchigiana male still-born calf: "The affected animal was the offspring of consanguineous mating and homozygous presence of the KDM2B missense variant was confirmed. Both parents were heterozygous for [the] KDM2B [variant]". Also, as the authors noted, "it cannot be excluded that the variant already was present before the Marchigiana breed was established as distinct breed, and therefore it may represent the identical variant as in the Romagnola breed."Clinical features: As summarised by Testoni et al. (2012), this disorder is "mainly characterized by facial deformities, ascites and hepatic fibrosis" Prevalence: Murgiano et al. (2014) reported that the "prevalence of carriers within top-ranked Romagnola sires over the years 2007-2012 was 29.3% (allele frequency 14.6%). In young bull calves, 30.9% were carriers with an allele frequency of 15.4%."
Murgiano et al. (2020) reported "the prevalence of carriers in a selected population of  Marchigiana bulls was <2%."Breed: Romagnola. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KDM2B||lysine (K)-specific demethylase 2B||Bos taurus||17||NC_037344.1 (53650601..53769702)||KDM2B||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Marchigiana Romagnola||Lethal multi-organ developmental dysplasia||KDM2B||missense||UMD3.1||17||g.56010031G>A||c.2503G>A||p.(D835N)||2012||23029151||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||Murgiano, L., Militerno, G., Sbarra, F., Drögemüller, C., G P Jacinto, J., Gentile, A., Bolcato, M. :|
|KDM2B-associated paunch calf syndrome in Marchigiana cattle. J Vet Intern Med :, 2020. Pubmed reference: 32515858. DOI: 10.1111/jvim.15789.|
|2014||Murgiano, L., Drögemüller, C., Sbarra, F., Bolcato, M., Gentile, A. :|
|Prevalence of paunch calf syndrome carriers in Italian Romagnola cattle. Vet J 200:459-61, 2014. Pubmed reference: 24792452. DOI: 10.1016/j.tvjl.2014.03.020.|
|2012||Testoni, S., Bartolone, E., Rossi, M., Patrignani, A., Bruggmann, R., Lichtner, P., Tetens, J., Gentile, A., Drögemüller, C. :|
|KDM2B Is Implicated in Bovine Lethal Multi-Organic Developmental Dysplasia. PLoS One 7:e45634, 2012. Pubmed reference: 23029151. DOI: 10.1371/journal.pone.0045634.|
|2009||Testoni, S., Militerno, G., Rossi, M., Gentile, A. :|
|Congenital facial deformities, ascites and hepatic fibrosis in Romagnola calves. Vet Rec 164:693-4, 2009. Pubmed reference: 19483213.|
- Created by Frank Nicholas on 17 Oct 2012
- Changed by Frank Nicholas on 17 Oct 2012
- Changed by Frank Nicholas on 07 May 2014
- Changed by Frank Nicholas on 11 Jun 2020