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: