Figure 3. Genetic analysis of a family harboring mutation in EFEMP1. Siblings with p.Arg387Gln and p.Ter494Glu of EFEMP1 gene was shown in A and B, respectively, with the Integrated Genome Viewer (IGV); the genotype of their parents was identified with Sanger sequencing. C, D: p.Arg387Gln and p.Ter494Glu for the father of the siblings, respectively. E, F: p.Arg387Gln and stop signal for the mother of the siblings, respectively. G: The pedigree map for the family with mutations in EFEMP1.