Appendix 3 of Asghar, Mol Vis 2025; 31:69-83.


Appendix 3. Supplementary Figure 3.

To access the data, click or select the words “Appendix 3.” Three pedigrees in which previously known pathogenic variants were identified in BBS syndrome associated genes in this study along with representative sequence chromatograms. Empty squares and circles show the unaffected males and females, respectively. The filled shapes show the affected individuals. The symbol labeled with a red arrow in each pedigree highlights the proband. Double lines indicate the consanguineous union. A) Pedigree of RP043 family showing the segregation of the ARL6 single nucleotide substitution i.e., c.281C>T in an autosomal recessive manner however (a) shows the sequence chromatogram highlighting wild-type and a homozygous mutant allele on the right and left side respectively. B) Pedigree of RP157 family showing the segregation of the BBS12 single nucleotide substitution i.e., c.1055A>C in an autosomal recessive manner however (b) shows the sequence chromatogram highlighting carrier and a homozygous mutant allele on the right and left side respectively. C) Pedigree of RP173 family showing the segregation of the ARL6 single nucleotide substitution i.e., c.534A>G in an autosomal recessive manner however (b) shows the sequence chromatogram highlighting carrier and a homozygous mutant allele on the right and left side respectively.