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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-07

AUTHORS

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

ABSTRACT

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. More... »

PAGES

348-351

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/376348a0

DOI

http://dx.doi.org/10.1038/376348a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008825069

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7630403


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