Figure 2.

Pedigree and VSX2 sequencing results for Patient 2 and family members. A: Patient 2 is indicated with a black arrow. VSX2 genotype is indicated for each family member tested; genotypes of affected individuals are shown in red. WT, wild type; NT, not tested. B: Mutation Surveyor view of reverse VSX2 sequencing data are shown; the position of the mutation is indicated with an arrow; the first position displaying the “phase shift” in the electropherogram trace which is characteristic of a heterozygous deletion is indicated with an asterisk.