Figure 2. Novel FZD4 mutation in family 1

A: Pedigree of the study family. The asterisk denotes the individuals whose phenotype-genotype is not known. B: Silver stained SSCP gel for exon 1 shows the mobility shift of the PCR products (arrow). C: Comparison of DNA sequences of the affected individual IV: 3 (top) to a normal IV: 4 (bottom). The patient IV: 3 DNA revealed a heterozygous C-to-T transition (boxed) in exon 1 of FZD4, resulting in a proline to Serine change (P33S).