Figure 1. Pedigree and haplotype analysis of CT1. A: The pedigree of family CT1 shows a high degree of consanguinity in 7 generations. Two haplotypes are represented in the pedigree; the spouse CT1–14 carries the identical mutation and shares the identical haplotype distal to the FOXE3 gene. The two haplotypes are shown as black or black and gray. Symbols: open circles or squares are healthy individuals, filled symbols represent affected individuals and half filled symbols represent carriers. B: Restriction enzyme digests of all the family members where DNA was available demonstrate the segregation of the mutation with the disease in the family. The restriction enzyme DdeI recognizes the mutation and cleaves the 204 bp band into two fragments of 131 bp and 73 bp. An additional 75 bp band is observed in all individuals.