Table 1. The mutations in CYP21A2 and their phenotypes according to their residual activities based on in vitro transfection assay.
Group A | Group B | Group C | |
---|---|---|---|
Phenotype | Salt-wasting | Simple virilizing | Nonclassic |
In vitro activity of CYP21A2 | 0%–1% | 1%–10% | 20%–60% |
Mutation | Gene deletion/conversion | p.I172N | p.P30L |
8 bp deletion E3 | p.V281L | ||
E6 cluster | p.P453S | ||
F306+t | |||
L307insT | |||
p.Q318* | |||
p.R356W |