Figure 4 of Asghar, Mol Vis 2025; 31:69-83.


Figure 4. Pedigree of the RP067 family along with sequence chromatograms. Left: Pedigree of the RP067 family in which a novel homozygous pathogenic variant, i.e., c.100+1G>T, was identified in the ARL2BP gene segregating with RP and situs inversus, 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 the RP067 family showing segregation of a novel variant, i.e., c.100+1G>T, in an autosomal recessive manner. The sequence chromatogram highlights carrier status and a homozygous mutant allele is shown on the left.