Figure 1. Chromatograms and pedigrees of three families with familial exudative vitreoretinopathy. Three novel mutations were identified
in TSPAN12. A: In Family A, the affected mother and son had the c.566G>A (p.C189Y) mutation. C: In Family B, the patient and her affected mother had the c.177delC (p.Y59fsX67) mutation. E: In Family C, the affected mother and son had the c.C254T (p.T85M) mutation. The columns from left to right display the pedigree
and the sequence chromatograms of these patients (A, C, E) and the normal controls (B, D, F). Arrows indicate the positions of the altered nucleotides.