OMIA:002381-9913 : Skeletal-cardio-enteric dysplasia, MAP2K2-related in Bos taurus (taurine cattle)
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific name: skeletal-cardio-enteric dysplasia
Species-specific description: Jacinto et al. (2021) characterized "the pathological phenotype of a Romagnola stillborn calf with skeletal-cardio-enteric dysplasia and ... [identified] a genetic cause by whole-genome sequencing (WGS)."
Molecular basis: Jacinto et al. (2021): "Genetic analysis revealed a private heterozygous missense variant in MAP2K2:p.Arg179Trp, located in the protein kinase domain in the calf, and not found in more than 4500 control genomes including its sire. The identified variant affecting a conserved residue was predicted to be deleterious and most likely occurred de novo."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Jacinto et al. (2021): "The [stillborn] calf showed reduced fetal growth, a short-spine, a long and narrow face, cardiac defects and heterotopy of the spiral colon."
Romagnola (Cattle) (VBO_0000360).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MAP2K2||mitogen-activated protein kinase kinase 2||Bos taurus||7||NC_037334.1 (19909636..19930988)||MAP2K2||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1473||Romagnola (Cattle)||Skeletal-cardio-enteric dysplasia||MAP2K2||missense||Naturally occurring variant||ARS-UCD1.2||7||g.19923991C>T||c.535G>A||p.(R179W)||NM_001038071.2; NP_001033160.2; possible de-novo causal variant||2021||34209498|
Cite this entry
|2021||Jacinto, J.G.P., Häfliger, I.M., Gentile, A., Drögemüller, C. :|
|A heterozygous missense variant in MAP2K2 in a stillborn Romagnola calf with skeletal-cardio-enteric dysplasia. Animals (Basel) 11, 2021. Pubmed reference: 34209498. DOI: 10.3390/ani11071931.|
- Created by Imke Tammen2 on 11 Aug 2021
- Changed by Imke Tammen2 on 11 Aug 2021