Figure 1. Family 32 with substitution Val196Met in GJA8. A: The pedigree of family 32 with autosomal recessive cataract is shown. Squares and circles represent men and women, respectively. Filled and clear symbols denote affected and unaffected individuals, respectively. Symbols marked with asterisks represent individuals who were genetically tested. B: The sequence electropherograms of the individuals screened in Family 32 are shown. The sequence for GJA8 shows homozygous substitution of G>A (c.649G>A) in the proband (right panel) whereas the unaffected mother was heterozygous for the same (left panel). The arrow shows the sequence change with codons marked with brackets.