Figure 1: DNA sequencing profiles. Electropherogram profiles of II-4 with a wild type allele (a), II-1 who was a homozygous for the c.1502T>G (b), and I-1 who was a heterozygous for the c.1502T>G (c). The single nucleotide transition at location 1502 bp (c.1502T>G) is indicated by an arrow. The nucleotide change is predicted to cause an amino acid substitution of valine by glycine at residue 501 (p.Val501Gly).