Table 1.
Description of retinoblastoma patients with RB1 gene mutations.
Fig 1.
Sequence analysis of exon 14 in a unilateral RB patient (#668).
The heterozygous C to T transition generated a stop codon TGA, in which the mutant T peak was lower in height than the wild type C peak in DNA from blood, whereas in DNA from tumor the mutant T and wild type C peaks were similar suggesting a mosaic mutation.
Fig 2.
Pedigree of a family with low penetrance retinoblastoma.
A unilateral RB patient (#661) carried a germline missense mutation in exon 7 which changed the amino acid leucine by proline (p.Leu223>Pro). The patient inherited this mutation from his father in whom this mutation led to a retinoma. Three out of nine of the father´s siblings also carried the mutation, but they were asymptomatic and none of them had children yet. OC: obligate carrier; half-blackened symbols: unilateral RB; dotted symbols: unaffected carriers; upper-left blackened symbol: retinoma; dashed symbol: deceased.
Fig 3.
Sequence analysis of a 21-bp heterozygous insertion in exon 20 of RB1from a bilateral RB patient (#660).
Both, the mutant and wild type copies of exon 20 were retrieved by cloning. The site of insertion in the mutant copy is indicated between the arrows.