Figure 2. Aromatase deficiency resulting from a novel null mutation in the CYP19A1 gene. (A) DNA sequence of the CYP19A1 gene around the site of mutation in exon 5. The C CYP19A1 is indicated by the arrow. (B) Schematic representation of CYP19A1 gene structure and the location of the mutation of 568insC in the map. Black bars represent exons. Truncated CYP19A1 protein caused by the 568insC is indicated by the arrow, resulting in 199 amino acids.