BIOMAT Database Logo BIOMAT Database Logo

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. 1995

F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands.

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 features. Many patients with RTS have been shown to have breakpoints in, and microdeletions of, chromosome 16p13.3 (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-AMP-regulated gene expression. 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.

UI MeSH Term Description Entries
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009687 Nuclear Proteins Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus. Nucleolar Protein,Nucleolar Proteins,Nuclear Protein,Protein, Nuclear,Protein, Nucleolar,Proteins, Nuclear,Proteins, Nucleolar
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002461 Cell Line, Transformed Eukaryotic cell line obtained in a quiescent or stationary phase which undergoes conversion to a state of unregulated growth in culture, resembling an in vitro tumor. It occurs spontaneously or through interaction with viruses, oncogenes, radiation, or drugs/chemicals. Transformed Cell Line,Cell Lines, Transformed,Transformed Cell Lines
D002885 Chromosomes, Human, Pair 16 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 16
D003360 Cosmids Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles. Cosmid
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005260 Female Females
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes

Related Publications

F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.
March 2013, Clinical genetics,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.
February 2003, Human molecular genetics,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
March 2019, Clinical genetics,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
May 2001, Human molecular genetics,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
April 2005, American journal of human genetics,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
December 2016, American journal of medical genetics. Part A,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
February 1993, American journal of human genetics,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
June 2002, Journal of medical genetics,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
Rubinstein-Taybi syndrome.
January 1983, Nursing times,
F Petrij, and R H Giles, and H G Dauwerse, and J J Saris, and R C Hennekam, and M Masuno, and N Tommerup, and G J van Ommen, and R H Goodman, and D J Peters
[Rubinstein-Taybi syndrome].
July 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie,
Copied contents to your clipboard!