Figure 2. Family 21 with substitution Pro199Ser in GJA8. A: The pedigree of family 21 with autosomal dominant cataract is shown. Symbols marked with asterisks represent individuals who were genetically tested. B: The sequence for GJA8 shows the heterozygous substitution of CCC> TCC (Pro->Ser; c658C>T) in the proband (left panel), whereas the unaffected mother had two normal alleles (right panel). The sequence change is indicated with an arrow.