Figure 4. Chromatograms showing three novel variants identified in patients with
CRD.
A: Sequence trace of the
PRPH2 gene (fragment of exon 2) in
the affected individual (Family 9) carrying a heterozygous missense variant
c.592A>C (upper
panel) and a normal control individual (lower panel).
B:
Sequence trace of the
PROM1 gene (fragment of exon 14) in the affected individual
(Family 5) carrying the heterozygous frameshift change c.1612delT
(upper panel)
and a normal control individual (lower panel).
C: Sequence trace of the
PROM1
gene (fragment of exon 23) in the affected individual (Family 5) carrying the
heterozygous frameshift change c.2389dupG
(upper panel) and a normal
control individual (lower panel). Because the
RPGR-ORF15 gene was sequenced commercially by Asper Biotech (Tartu, Estonia), the chromatogram is not available. The chromatogram showing
the mutation c.1691A>G in the
ATF6 gene was included in our previous report [
19].