Table 3 of Rojanaporn, Mol Vis 2018; 24:778-788.

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).

Rojanaporn, Mol Vis 2018; 24:778-788. http://www.molvis.org/molvis/v24/778

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