Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
These results indicate that P105L and P453S can be expected to result in a very subtle disease manifestation when not found in combination, motivating their inclusion when genotyping to ascertain undiagnosed patients with the mildest forms of 21-hydroxylase deficiency.