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

Fred Petrif, Rachel H. Giles, Hans G. Dauwerse, Jasper J. Saris, Raoul C.M. Hennekam, Mitsuo Masuno, Niels Tommerup, Gert Jan B. van Ommen, Richard H. Goodman, Dorien J.M. Peters, Martijn H. Breuning

Research output: Contribution to journalArticlepeer-review

1023 Scopus citations


THE Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome with facial abnormalities, broad thumbs, broad big toes and mental retardation as the main clinical features1-3. Many patients with RTS have been shown to have breakpoints in, and microdeletions of, chromosome 16pl3.3 (refs 4-8). Here we report that all these breakpoints are restricted to a region that contains the gene for the human CREB binding protein (CBP), a nuclear protein participating as a co-activator in cyclic-A IMP-regulated gene expression9-12. We show that RTS results not only from gross chromosomal rearrangements of chromosome 16p, but also from point mutations in the CBP gene itself. Because the patients are heterozygous for the mutations, we propose that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy.

Original languageEnglish (US)
Pages (from-to)348-351
Number of pages4
Issue number6538
StatePublished - Jul 27 1995

ASJC Scopus subject areas

  • General


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