Figure 1.

Pedigrees of Investigated Families

The pedigree for family A shows a consanguineous Moroccan family⁹ in which linkage analysis and exome sequencing were performed. The pedigree for family B shows a Tyrolean family affected by KTS,⁸ and the parents are not knowingly related. The pedigree for family C shows the newly diagnosed Swiss family (the parents are X:1 and X:2) and its relationship with the distantly related index family reported in 1974 (parents IX-3 und IX-4).¹ Note that the parents in the newly identified family are distantly related to each other, but the affected child is compound heterozygous for two different mutations.