Zinc deficiency-like syndrome

Phene ID

3735

Name

Zinc deficiency-like syndrome

Phene Name

N/A

OMIA ID

1935

Species ID

9913

Characterised

Yes

Characterised Year

2014

Jung et al. (2014) were very careful to note that "Although the phenotype of affected calves strongly resembles BHZD [bovine hereditary zinc deficiency], a zinc deficiency resulting from malabsorption is unlikely to be responsible for the diseased Fleckvieh calves."

Analysis of whole-genome sequence data in the candidate region (see Mapping section above), from one affected calf and 42 normal Fleckviehs enabled Jung et al. (2014) "revealed a nonsense mutation (p.W215X) in a phospholipase encoding gene (PLD4) as candidate causal polymorphism". The causality of this mutation was confirmed by sequencing for this mutation in "3,650 animals representing three different breeds". The complete description of the mutation is "c.G645A, p.W215X, BTA 21:71,001,232 bp, rs378824791".