Figure 3. Two pedigrees in which homozygous pathogenic variants were identified in Batten disease-associated genes in this study along with representative sequence chromatograms. Empty squares and circles indicate unaffected males and females, respectively. Filled shapes indicate affected individuals. The symbol labeled with a red arrow in each pedigree highlights the proband. Double lines indicate a consanguineous union. A: Pedigree of the RD002 family showing segregation of the novel CLN5 missense variant, i.e., c.581C>T, in an autosomal recessive manner; (a) shows a sequence chromatogram highlighting carrier status and a homozygous mutant allele on the right and left side, respectively. B: Pedigree of the RP155 family showing segregation of the MFSD8/CLN7 single-nucleotide substitution, i.e., c. 826T>G, in an autosomal recessive manner; (b) shows a sequence chromatogram highlighting carrier status and a homozygous mutant allele on the right and left side, respectively.