Table 3. Clinical profiles of RB patients with different types of germline RB1 mutations.
| Mutation type | Number of probands | Mean age at diagnosis months (±SEM) |
Number of probands
by lateral type |
|
|---|---|---|---|---|
| Unilateral | Bilateral | |||
| Nonsense# | 9 (28%) | 7.3 (2.5) | 1 | 8 |
| Splicing## | 7 (25%) | 11.9 (3.7) | 2 | 5 |
| Frameshift# | 4 (13%) | 16.5 (10.9) | 1 | 3 |
| Missense## | 3 (9%) | 3.7 (1.5) | 1 | 2 |
| Promoter## | 3 (9%) | 21.0 (4.0) | 2 | 1 |
| Gross deletion |
5 (16%) |
17.4 (6.4) |
2 |
3 |
| Total | 31 | 9 | 22 | |
Mean age at diagnosis is not different among patients with different types of mutations by One-way ANOVA. Laterality is not associated with mutation types (testing for patients with mutations that resulted in premature stop codon: #nonsense and #frameshift mutations versus patients with ##splicing mutations combined with those with ##missense and with ##promoter mutations by Fisher’s exact test).