Figure 2.

Novel disease-causing variants in TTLL5 in cone dystrophy: Pedigree of the index patient with disease-causing variants in TTLL5 and cosegregation analysis. The index patient, the proband, is the individual II-3, marked with an arrow. Square symbol=male, round symbol=female, filled symbol=affected, unfilled symbol=unaffected, double line=consanguinity. Underneath the symbols, the sequence electropherograms of the disease-causing variant in TTLL5 is found homozygously in the proband and heterozygously in the parents. The underlined letters correspond to the modifications of the sequence induced by this disease-causing variant.