No effects of a synonymous variant within the CD59 gene on its protein product in duodenal biopsies of coeliac individuals.

A novel rare variant within the CD59 gene was linked with coeliac disease in a family with high incidence of disease. Functional analyses of this variant were performed using complementary DNA analysis and protein analysis in paraffin-embedded duodenal biopsies from affected individuals and controls. No effects on pre-mRNA or size of linear protein were observed, although these results do not exclude the possible effects of this variant on co-translational protein folding.