Figure 3 of Wang, Mol Vis 2010; 16:1146-1153.

Figure 3. Pedigrees and sequence chromatography. Black filled symbols represented individuals affected with WS1 in each family. Arrow indicated the proband in each family. A: Clone sequencing demonstrated a c.567_586+17del mutation in Family A. For the other four families, bidirectional sequencing results were shown for the regions with variations. Underline below the sequence highlighted the codon affected by the mutation. Gel electrophoresis band patterns below the pedigrees of families A, B, and C were the results of heteroduplex-SSCP analysis, which demonstrated the presence and absence of three novel mutations in other family members. The c.456_459dupTTCC and c.795_800delCTGGTT mutations in the probands from families B and C were not detected in their parents, suggesting de novo mutations. The c.567_586+17del mutation in Family A was not present in the patient’s father but sample from her mother was not available. For families D and E, genomic samples from other family members were not available.