OMIA:001722-9913 : Lethal multi-organ developmental dysplasia in Bos taurus (taurine cattle)

Categories: Mortality / aging (incl. embryonic lethal)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609078 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific name: Paunch calf syndrome

History: This disorder was first reported by Testoni et al. (2009).

Mapping: Testoni et al. (2012) "localized the causative mutation to a 1.2 Mb interval on BTA 17 by genome-wide association and identical by descent mapping".

Molecular basis: Using targeted DNA capture and massively parallel resequencing of the 1.2 Mb region that contained 24 genes, Testoni et al. (2012) identified a causal mutation as a "KDM2B missense mutation (c.2503G>A) leading to an amino acid exchange (p.D835N) in an evolutionary strongly conserved domain". As the same authors report, "The KDM2B gene (also known as JHDM1B and FBXL10) encodes a histone H3 lysine 36 dimethyl (H3K36me2)-specific demethylase . . . Histone methylation is one important transcription regulatory system that affects mammalian development and cell differentiation". 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 [114] Marchigiana bulls was <2%."

Breeds: Marchigiana (Cattle) (VBO_0000291), Romagnola (Cattle) (VBO_0000360).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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 (53650993..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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
196 Marchigiana (Cattle) Romagnola (Cattle) Lethal multi-organ developmental dysplasia KDM2B missense Naturally occurring variant ARS-UCD1.2 17 g.53761149G>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)" (

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001722-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2022 Jacinto, J.G.P., Sbarra, F., Quaglia, A., Gentile, A., Drögemüller, C. :
Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle. Animal 16:100569, 2022. Pubmed reference: 35717834. DOI: 10.1016/j.animal.2022.100569.
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.

Edit History

  • 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
  • Changed by Imke Tammen2 on 08 Oct 2023