Figure 1. Pedigrees of PCG families with CYP1B1
or MYOC mutations. A: Families with the CYP1B1
novel mutation (p.R163C, p.C470Y, and g.4330–4331delTG) identified in
this study. B: Family PCG-40 with the CYP1B1 p.R390S
mutation showing variable expression of the PCG phenotype. The proband
(PCG-40-IV.6) was affected with PCG, while his uncle (PCG-40-III.1;
gray symbol) developed POAG at the age of 45. C: Family PCG-9
with MYOC mutation. Deceased individuals are denoted by
diagonal slashes, and consanguineous marriages by double lines.
Asterisks indicate probands. Genotypes in available subjects are
indicated below the symbols. delG: g.4339delG, delTG: g.4430–4431delTG,
w: normal allele.