Figure 2. Pedigrees of Families 3 to 9.
Seven families with retinomas family members in which RB1
mutations have been identified, the families harbor different level of
expressivity but are not low-penetrance ones. Causing mutations are all
truncating except the E737D thus truncating mutations are responsible
of the majority of retinomas in this study. In Families 6 and 9 novel RB1
mutations segregate, namely the 675X and the A766fsX44 mutation. Solid
black symbols represent bilateral retinoblastoma (RB). Half black
symbols represent unilateral RB. Solid gray symbols represent bilateral
retinoma. Half gray symbols represent unilateral retinoma. Slashed
symbols represent deceased individuals, and symbols with black dot
represent unaffected mutation carriers.