By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
This report is the first application of the reverse dot-blot (RDB) assay for diagnosis of the nine most common point mutations in the CYP21 gene associated with CAH (P30L, g.659A>G or g.659C>G, I172N, I236N-V237E-M239K, V281L, g.1767-1768insT, Q318X, R356W, P453S).
In group C (P30L, V281L, P453S in homozygous or compound heterozygous form with a more severe mutation), ppv(C) was 64.7% to exhibit the nonclassical form of CAH, but 90% when excluding the P30L mutation.