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.