Novel mutation of CYP21A2 gene (N387K) affecting a nonconserved amino acid residue in Exon 9.

The aim of this letter is to report on one additional novel mutation of CYP21A2 gene in a Sicilian girl with NC-CAH, who presented at the age of 7.8 years owing to premature pubarche and advancement of both height and bone age. DNA analysis revealed a genotypical picture of compound heterozygosis that had never been described hitherto. Paternal allele carried the mild V281L mutation, whilst in the allele of maternal origin our patient exhibited a novel cytosine (C) to guanine (G) transition at codon 387 in exon 9 that results in a novel missense mutation, with the non polar asparagine (N) to be replaced by the positively charged lysine (K) (N387K). To conclude : a) N387K mutation should be added to the list of mutations which are to be analyzed in the patients with CAH; b) V281L / N387K genotype should be included in the panel of genotypes associated with the NC forms of CAH.