Journal
GENES
Volume 12, Issue 7, Pages -Publisher
MDPI
DOI: 10.3390/genes12070968
Keywords
Rubinstein-Taybi syndrome; CREBBP; EP300; epigenetics; chromatin; acetylation; chromatinopathies; phenotype; genotype
Categories
Funding
- Rubinstein-Taybi Syndrome Foundation
- University Hospital of Bordeaux
- Agence de la Biomedecine
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Rubinstein-Taybi syndrome is a rare congenital developmental disorder caused by gene mutations. Two genes are known to be associated with this syndrome, leading to clinical heterogeneity and difficulties in establishing phenotype/genotype correlations.
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. It occurs at between 1/100,000 and 1/125,000 births. Two genes are currently known to cause RSTS, CREBBP and EP300, mutated in around 55% and 8% of clinically diagnosed cases, respectively. To date, 500 pathogenic variants have been reported for the CREBBP gene and 118 for EP300. These two genes encode paralogs acting as lysine acetyltransferase involved in transcriptional regulation and chromatin remodeling with a key role in neuronal plasticity and cognition. Because of the clinical heterogeneity of this syndrome ranging from the typical clinical diagnosis to features overlapping with other Mendelian disorders of the epigenetic machinery, phenotype/genotype correlations remain difficult to establish. In this context, the deciphering of the patho-physiological process underlying these diseases and the definition of a specific episignature will likely improve the diagnostic efficiency but also open novel therapeutic perspectives. This review summarizes the current clinical and molecular knowledge and highlights the epigenetic regulation of RSTS as a model of chromatinopathy.
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