Figure 1. Pedigrees and Controls.

The pedigrees of the 5 unrelated, nonconsanguineous families in whom the variant was identified (F1-F5). The probands are indicated by the arrowheads. Patients are represented by shaded symbols. Heterozygous alleles in the genotyped patients are labeled +/−. The inset panel represents the reference principal component (PC) analysis coordinates for samples from the Human Genome Diversity Project reference panel. The Maltese genomic data set is shown superimposed in black and indicated by the arrowhead, mapping close to the European and Middle Eastern clusters and suggesting a shared genetic ancestry between the 2 populations. C/S indicates central/south.