Figure 1. Pedigree with haplotypes of family 4 (heterozygous mutation). A: Pedigree with haplotypes of family 4 (heterozygous mutation) is shown. In this family, the index patient (II.2) is heterozygous for the E229K mutation as is her unaffected dizygotic twin (II.3) and parents (I.1 and I.2). On the other hand, the index patient’s brother (II.1) does not carry the E229K mutation but has the disease. This suggests that the E229K mutation cannot be causative for PCG in this family. The order of the SNPs from top to bottom is rs2617266, rs10012 (p. R48G), rs1056827 (p.A119S), rs1056836 (p.V432L), rs1056837 (p.D449D), and rs1800440 (p.N453S). B: Pedigree with haplotypes of Family 6 (no mutation) is shown. In this family, no CYP1B1 mutation was identified. Analysis of the six known SNPs in CYP1B1 revealed homozygosity for the 5′-CCGGTA-3′ haplotype in both PCG-affected brothers (II.2 and II.3) and heterozygosity in the unaffected sister (II.1) and parents (I.2 and I.3). This indicates a critical role for the 5′-CCGGTA-3′ haplotype in PCG. The order of the SNPs from top to bottom is: rs2617266, rs10012 (p. R48G), rs1056827 (p.A119S), rs1056836 (p.V432L), rs1056837 (p.D449D), and rs1800440 (p.N453S).