Disruption of the CREBBP gene and decreased expression of CREB, NFκB p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation

• CREBBP gene disruption leads to low expression of CREB, NFκB, c-Jun, c-Fos, Myc and BCL2.
• The CREBBP gene is essential for the normal expression of these proteins.
• The disruption of the CREBBP suggests immune dysregulation in Rubinstein Taybi syndrome patient.

Genomic aberrations in theCREBBP (CREB-binding protein – CREBBP or CBP) gene such as point mutations, small insertions or exonic copy number changes are usually associated with Rubinstein-Taybi syndrome (RTs). In this study, the disruption of the CREBBP gene on chromosome 16p13.3, as revealed by CGH-array and FISH, suggests immune dysregulation in a patient with the Rubinstein Taybi syndrome (RTs) phenotype. Further investigation with Western blot techniques demonstrated decreased expression of CREB, NFκB, c-Jun, c-Fos, BCL2 and cMyc in peripheral blood mononuclear cells, thus indicating that the CREBBP gene is essential for the normal expression of these proteins and the regulation of immune responses.