Figure 2. Pedigree analysis and molecular study of Family 2. A: DNA sequencing chromatogram from heterozygous mutant of proband (II:1) showed missense mutation in codon 166 in which Arg was replaced by Trp (R166W C>T; arrow indicates the position of nucleotide substitution). B: The Pedigree of Family 2 indicates two affected patients (arrow indicates the proband) as well as the segregation of p.R166W in the family. The each family's member was presented by age (in years), genotype and topography images. Filled symbols show KTCN patient while open symbols represent persons without clinical KTCN.