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.