Figure 2. Pedigree of the RP164 family along with sequence chromatograms. Left. Pedigree of the RP164 family in which a novel homozygous pathogenic variant, i.e., c.347C>T, leads to a missense substitution, i.e., p. Pro116Leu, being identified in the BBS3 (ARL6) gene 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 highlights the proband. Double lines indicate a consanguineous union. Right. Pedigree of RP164 family showing the segregation of a novel variant, i.e., c.347C>T, in an autosomal recessive manner. The sequence chromatogram highlighting carrier status as well as a homozygous mutant allele is shown on the left.