OMIA 002381-9913 : Skeletal-cardio-enteric dysplasia, MAP2K2-related in Bos taurus |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
615280 (trait)
,
601263 (gene)
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."
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."
Breed:
Romagnola.
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MAP2K2 | mitogen-activated protein kinase kinase 2 | Bos taurus | 7 | NC_037334.1 (19909641..19932213) | MAP2K2 | Homologene, Ensembl, NCBI gene |
Reference
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. |
Edit History
- Created by Imke Tammen2 on 11 Aug 2021
- Changed by Imke Tammen2 on 11 Aug 2021