Figure 1. Six-generation pedigrees of the investigated families (F1 to F5). Circles indicate females, and squares indicate males. Filled symbols represent affected members, arrows indicate proband patients in each family, and double lines indicate consanguinity. Pink connected symbols signify the same person. The identified disease-causing variants are noted beneath each pedigree. Families F2 and F3 carry the same identified variants. - indicates the wild-type normal allele, and + indicates the variant allele.