Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Mutations in the human CREB binding protein (CBP) in all cells of an individual, causes the Rubinstein-Taybi syndrome (RTS) and RTS is probably the first example of a multiple congenital malformation and mental retardation produced by improper regulation of gene expression. RTS is characterized by facial abnormalities, broad thumbs and toes and mental retardation. Breakpoints in the chromosome 16p13.3, which are localized to a region containing the gene for CBP, are observed in patients with RTS.