FIGURE 2.

Pedigree analysis of the identified variants and variant filtering strategy used for variant prioritization of exome data. (A) Pedigrees of the five investigated families and validation of variants by Sanger sequencing. Squares represent males, circles represent females, double lines indicate consanguineous parents, black-filled symbols and hollow symbols represent affected and unaffected members, respectively, slash indicates a deceased family member, and black arrows indicate the probands. The notation ± indicates heterozygosity for the variant, +/+ represents homozygosity for the normal allele, and −/− signifies homozygosity for the deleterious variant. (B) Variant filtering strategy for the WES-generated data. PV: potential variants.