Figure 3.

A synonymous mutation detected in affected family members with retinoblastoma or retinoma. A: Family pedigree illustrating the inheritance pattern within a family. Affected family members carried a synonymous mutation (g.5550 G>A, p.Leu88Leu). The proband (arrow) and his brother had bilateral RB (solid black), whereas their father had unilateral retinoma (half gray). The diagonal line represents deceased, and the + or – indicates the presence or absence of an RB1 pathogenic variant. B: Mutant and wild-type transcripts detected in blood cells of affected mutation carriers. C: Chromatograms of RT–PCR products show the absence of exon 2 in mutant RB1 transcripts.