OMIA 001722-9913 : Lethal multi-organ developmental dysplasia in Bos taurus

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".

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%."

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

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
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)

References


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.
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