Figure 1.

Pedigrees from the Costa Rican (PCG-CR1) and Russian (PCG-R1) families are shown. The Costa Rican family presented the mutation c.1200-1209dup in homozygous form. The affected individuals in the Russian family are compound heterozygotes for CYP1B1 mutations. The index patients in each family are shown with an arrow; the individual carrying the E229K variant is indicated with an asterisk.