Acrodermatitis enteropathica

Phene ID

1160

Name

Acrodermatitis enteropathica

Phene Name

Lethal trait A46; bovine hereditary zinc deficiency, hereditary parakeratosis, hereditary thymus hypoplasia

OMIA ID

593

Species ID

9913

Characterised

Yes

Characterised Year

2002

Bovine hereditary zinc deficiency was first described in Friesian cattle (McPherson et al., 1964) and later in Fleckvieh (Schlerka and Baumgartner, 1976), Shorthorn (Vogt et al., 1988) and Angus cattle (Cook and Gill, 1993). A likely disease causing variant has been reported for Friesian cattle (Yuzbasiyan-Gurkan and Bartlett, 2006).

In a conference abstract, Tammen et al. (2002) reported an undisclosed likely causal nonsense variant in the comparative candidate gene SLC39A4 for the disease in Angus cattle. Yuzbasiyan-Gurkan and Bartlett (2006) reported the molecular basis of this disorder in Friesian cattle to be a splice-site variant within the SLC39A4 gene. "The mutation leads to exon skipping, leaving the coding region in frame. The gene product is predicted to lack two critical motifs, which lie in adjacent transmembrane domains implicated in the formation of a pore responsible for the transport of zinc. While further functional studies are warranted, this unique variant is likely to be responsible for the impaired zinc absorption in this disease."