Identification and functional characterization of a novel mutation P459H and a rare mutation R483W in the CYP21A2 gene in two Chinese patients with simple virilizing form of congenital adrenal hyperplasia.

Both R483W and P459H mutations are confirmed to be related to NC CAH by in vitro functional study, with phenotype variance of R483W in Tunisian and Chinese patients. This study will aid in predicting disease severity and in facilitating family genetic counseling.