Figure 1

Pedigree drawings for families F1, F4, F6, OI and L1.
For families F1, F4 and F6, genotypes are marked for individuals with DNA available and tested; the following abbreviations are used: +, normal (wild-type) variant; Δ, rare mutant variant. Family OI: The affected individual (P1) is indicated with a solid symbol, heterozygotes are shown with half-solid symbols.