Figure 3.

Mutation spectrum of CREBBP and EP300 in individuals with Rubinstein-Taybi syndrome (RTS) (referenced in HGMDPro variant database and/or LOVD). (A) Repartition of 500 pathogenic variants in CREBBP referenced as causing RTS1 including 84 non-sense variants, 192 frameshift variants, 46 splicing variants, 84 missense variants, 75 intragenic deletions, 14 deletions including CREBBP completely, 2 intragenic duplications and 3 complex rearrangements. (B) Repartition of 118 pathogenic variants in EP300 referenced as causing RTS2 including 26 non-sense variants, 56 frameshift variants, 6 splicing variants, 16 missense variants, 11 intragenic deletions and 3 deletions encompassing EP300 completely. Adapted from a study by Van Gils et al.¹⁵