Figure 1. Pedigree diagrams of family F1–F6.

Black symbols indicate clinically affected family members, open symbols indicate unaffected, and grey symbols indicate affected but with no clinical assessment/diagnosis. Arrow specifies the proband of the family. +/− denotes heterozygote presence of the familial mutation, whereas −/− denote absence. Not all family members were tested. Family 1 (F1) consisted of 7 members, 5 of which participated in the study. Families F2, F3, F4 and F6 consisted each of three members of which all participated. In family F5, two members participated and two additional members (F5; II:2 and F5; II:3) had clinically been diagnosed with PFE prior to the genetic study but declined genetic conformation.