Skeletal, cardiac, and enteric dysplasia

Gene: MAP2K2

Transmission: Autosomal dominant

Mutation: Substitution, MAP2K2 gene; c.535 G>A, p.(R179W), exon5, chr.7.

Medical systems: Skeletal, cardiac, intestinal

Breeds: Romagnole

Age of onset of symptoms: At birth.

An isolated case of skeletal, cardiac, and enteric dysplasia was seen in a single stillborn calf of the Romagnole cattle breed.  The calf was of reduced size, with a short spine, a long and narrow face, structural cardiac defects, and a misplaced spiral colon.  Molecular studies identified a heterologous mutation in the MAP2K2 gene, which codes for a protein in the mitogen-activated protein kinase (MAPK) cell signaling pathway.  Since the mutation was present in one copy in the calf and was absent in the sire, it was assumed to be a de novo mutation in the calf.  As such, it can be considered an incidental and self-limiting mutation, and although of academic interest it is not a practical concern to Romagnole cattle breeders.

References:

OMIA link: [2381-9913]

Jacinto JGP, Häfliger IM, Gentile A, Drögemüller, C. (2021) A heterozygous missense variant in MAP2K2 in a stillborn Romagnola calf with skeletal-cardio-enteric dysplasia. Animals (Basel) 11(7):1931.  [pm/34209498]

Contributed by: Léa Elyse Riendeau and Noemi Roy, Class of 2028, Faculty of Veterinary Medicine, University of Montreal.  (Translation, DWS)