Figure 1.
Pedigrees of two families with CYP11A1 mutations. Affected individuals in both families (dark filled symbols) were compound heterozygous for the indicated mutations. Unaffected parents and a healthy sibling have heterozygous mutations (half-filled symbols). Gray symbols indicate c.835delA (I279Yfs*10). Black symbols indicate c.940G>A (p.E314K). Arrows indicate the probands.