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Table 4 Molecular basis of low penetrance retinoblastoma

From: RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database

Type of mutation Number of LP families Description of mutations and frequency a Functional consequences
Regulatory 3 -198G>A (1/2)
-188G>T (1/2)
-149G>C (1/1)
Low expression of normal Rb protein
MS point mutations 12 R661W (8/20)
C712R (2/5)
W563L (1/1)
R787Q (1/1)
Partial inactivation of Rb protein
Inframe deletion 3 Del:N480 (1/1)
Del: E24–25
Partial inactivation of Rb protein
Splicing 10 607+1G>T (4/11)
862-10T>C (1/1)
539+1delG, del E05 (1/1)
2325+5G>A, del E:22 (1/1)
Q443P/del:E13 (1/1)
V654L/splice (1/2)
E732E/del E:21(1/2)
Alternative splicing and/or unessential exon skipping resulting in low expression or partial inactivation of Rb protein
NS point mutation 1 Q675X (1/1) Alternative splicing involving the stop codon
  1. aRatio of mutations found in LP families vs. all mutations in the database is shown in brackets