A Novel Missense Mutation in the<i>HSD3B2</i>Gene, Underlying Nonsalt-Wasting Congenital Adrenal Hyperplasia. New Insight Into the Structure-Function Relationships of 3β-Hydroxysteroid Dehidrogenase Type II

Abstract

We identified a novel p.G250V mutation of HSD3B2 which causes an incomplete loss of enzymatic activity, explaining the compensated nonsalt loss phenotype. In vitro and in silico experiments provided insight into the structure-function relationship of the 3βHSD2 protein suggesting the importance of the L239-Q251 loop for the catalytic activity of the otherwise stable 3βHSD2 enzyme.