Figure 1 of Liang, Mol Vis 2013; 19:1885-1891.

Figure 1. Pedigree and sequence analysis of five families. Patients are all compound heterozygous in the loci. Parents were heterozygous carriers of the mutant allele. A: Patient 1’s family. Patient 1 carried two mutations, p.N3150Kfs2X (c.9448insA) and p.V3154Xfs (C.9460delG); father, p.N3150Kfs2X; mother p.V3154Xfs. B: Patient 2’s family. Patient 2 carried two mutations, p.N3672Ifs11X (c.11015delA) and P.R3703X (c.11107C>T); father, P.R3703X; mother p.N3672Ifs11X. C: Patient 3′s family. Patient 3 carried two mutations, p.S2479X (c.7436C>G) and p.R3611Efs7X (c.10883insG); father, p.R3611Efs7X; mother, p.S2479X. D: Patients 4 and 5′s family. Patients 4 and 5 carried a homozygous mutation, p.S695X (c.2084C>A), father, p.S695X; mother, p.S695X. E: Patients 6 and 7’s family. Patients 6 and 7 carried two mutations, p.H688HfsX (c.2064delT) and p.Q3147Qfs2X (c.9441_9442insAATA); father, p.Q3147Qfs2X; mother, p.H688HfsX. Squares indicate men; circles, women; black, patient; half black, mutant allele carrier.