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Review

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

1
Reference Center AD SOOR, AnDDI-RARE, INSERM U 1211, Medical Genetics Department, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France
2
Marseille Medical Genetics, INSERM U 1251, MMG, Aix Marseille University, 13385 Marseille, France
*
Author to whom correspondence should be addressed.
Academic Editor: Giovanni Neri
Genes 2021, 12(7), 968; https://doi.org/10.3390/genes12070968
Received: 20 May 2021 / Revised: 31 May 2021 / Accepted: 16 June 2021 / Published: 24 June 2021
(This article belongs to the Special Issue Study on Genotypes and Phenotypes of Pediatric Clinical Rare Diseases)
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. View Full-Text
Keywords: Rubinstein-Taybi syndrome; CREBBP; EP300; epigenetics; chromatin; acetylation; chromatinopathies; phenotype; genotype Rubinstein-Taybi syndrome; CREBBP; EP300; epigenetics; chromatin; acetylation; chromatinopathies; phenotype; genotype
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MDPI and ACS Style

Van Gils, J.; Magdinier, F.; Fergelot, P.; Lacombe, D. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder. Genes 2021, 12, 968. https://doi.org/10.3390/genes12070968

AMA Style

Van Gils J, Magdinier F, Fergelot P, Lacombe D. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder. Genes. 2021; 12(7):968. https://doi.org/10.3390/genes12070968

Chicago/Turabian Style

Van Gils, Julien, Frederique Magdinier, Patricia Fergelot, and Didier Lacombe. 2021. "Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder" Genes 12, no. 7: 968. https://doi.org/10.3390/genes12070968

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