Figure 2.

Mutations in the gene for 11β-hydroxysteroid dehydrogenase type 2 in patients with AME. These patients were investigated by our group, and the phenotypes are well described. The HSD11B2 gene has five exons, is 6.2 kb long, and has been mapped to chromosome 16q22. The mutation in Patient 15 is reported here (identified by an arrow). All mutations found in affected patients are homozygous except for Patient 3, who is a compound heterozygote.