Figure 5

RT-PCR and bioinformatic analysis of the splice site mutation (c.4728+1G>A) of pt 20. a RT-PCR of the CREBBP fragment including Ex 28 and 29 evidenced an additional smaller fragment (NC: normal control). b bioinformatic analysis with Splice Site Prediction [18] and the SpliceView [19]: the physiological donor site is in bold; the de-novo donor site activated is underscored. c schematic diagram of the misplicing predicted to occur in this patient with the cryptic donor site underscored. On the left electropherogram of the normal donor site; on the right the electropherogram attesting activation of the cryptic donor site.