Fig. 1.

(a) An altered HRM curve for the Toledo cell line (marked by red curves) demonstrates the first screening step. (b) Direct sequencing revealed a missense mutation of the Toledo cell line in exon 28 of the EP300 gene (G–>C transversion resulting in an amino acid substitution, L1520V). (c) Direct sequencing revealed a 3 bp deletion causing a frame shift of the Toledo cell line in exon 30 of the CREBBP gene (resulting in a premature stop-codon V1742X). (d) Direct sequencing revealed a missense mutation in the RL cell line in exon 26 of the EP300 gene (A–>G transition resulting in an amino acid substitution, Y1413C). (For interpretation of the reference to color in this figure, the reader is referred to the web version of this article.)