Figure 1. Overview of the pedigree structure of the Indonesian families participating in this study. Affected individuals are indicated with filled symbols, whereas unaffected relatives are indicated by open symbols. Symbols with a slash depict deceased individuals. Probands are indicated with arrows, and individuals that were genotyped on genome-wide SNP arrays are marked with asterisks. Upon the identification of mutations in the probands (gene and mutation indicated below the pedigree), segregation analysis was performed in all available relatives, the results of which are indicated with M (mutated allele) or + (wild-type allele).