Figure 2.

Results of the genetic analysis of the FAN1 gene. Part of exon 5 is shown. A single nucleotide (T) insertion was detected in the blood DNA sample of symptomatic Patient III/B, and its presence was also confirmed in her DNA purified from paraffin-embedded pancreas and kidney tissue samples. Her symptomatic brother (III/A) also carried the same FAN1 mutation in the homozygous state. Their asymptomatic uncle (II/57) and his wife (II/43) proved to be heterozygous carriers. Three of their sons (C, D, and E) were symptomatic. III/C was proven to be a heterozygous carrier, while his brother III/E carried the FAN1 mutation in a homozygous state. III/D had no available biological sample to analyze.