|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
|
30635043 |
2019 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells.
|
31504229 |
2019 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes.
|
31491690 |
2019 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CREBBP is the major causative gene (55%-60% of the cases), whereas pathogenic variants found in EP300 represent the molecular cause in 8% of RSTS patients.
|
31566936 |
2019 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We performed whole-exome sequencing (WES) on eight RSTS-like individuals who had normal high-resolution array CGH testing and were CREBBP- and EP300-mutation -negative, to identify the molecular cause.
|
30806792 |
2019 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
|
29883886 |
2018 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Remarkably, overexpression of Ep300a KAT domain results in near complete rescue of the jaw development defects, a characteristic feature of RSTS in human suggesting the dispensability of the protein-interaction and DNA-binding domains for at least some developmental roles of Ep300.
|
29409755 |
2018 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively.
|
29506490 |
2018 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations.
|
29359884 |
2018 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
|
29460469 |
2018 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Results are placed within the context of all prior published EP300 cases not ascertained by targeted testing, which are disproportionately female compared with a cohort identified because of a clinical suspicion of RSTS (p = 0.01).
|
29133209 |
2018 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutation in either the CREBBP (RSTS1) or EP300 (RSTS2) genes.
|
29944992 |
2018 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein (CREBBP), the gene-encoding protein referred to as CBP, and the EP300 gene, which encodes the p300 protein, a CBP homologue.
|
28523540 |
2017 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
All EP300-mutated individuals show a mild RSTS phenotype and peculiar findings including maternal gestosis, skin manifestation, especially nevi or keloids, back malformations, and a behavior predisposing to anxiety.
|
26486927 |
2016 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
|
27964710 |
2016 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that EP300 mutations cause a phenotype that typically resembles the classical RSTS phenotype due to CREBBP mutations to a great extent, although most facial signs are less marked with the exception of a low-hanging columella.
|
27648933 |
2016 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In addition, there is an apparent high incidence of preeclampsia in women carrying a child with a mutation in CREBBP/EP300 (Rubinstein-Taybi Syndrome).
|
26171964 |
2015 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Beyond the expansion of the RSTS-EP300-mutated cohort, this study indicates that EP300-related RSTS cases occur more frequently than previously thought (˜8% vs 3-5%); furthermore, the characterization of novel EP300 mutations in RSTS patients will enhance the clinical practice and genotype-phenotype correlations.
|
24476420 |
2015 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases).
|
25388907 |
2015 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our patient expands the phenotypic spectrum in EP300-related RSTS; this case demonstrates the evolving practice of clinical genomics related to increasing availability of genomic sequencing methods.
|
25712426 |
2015 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS.
|
25599811 |
2015 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome).
|
24839169 |
2014 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The first case is a 3-year-old female with an exonic deletion of the EP300 gene who has classic facial features of RSTS without the thumb and great toe anomalies, consistent with the milder skeletal phenotype that has been described in other RSTS cases with EP300 mutations.
|
20717166 |
2011 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
|
20014264 |
2010 |
|
Rubinstein-Taybi Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To detect chromosomal rearrangements indicating novel positional candidate RSTS genes, we used a-CGH to study 26 patients fulfilling the diagnostic criteria for RSTS who were negative at fluorescence in situ hybridisation analyses of the CREBBP and EP300 regions, and direct sequencing analyses of the CREBBP gene.
|
20125191 |
2010 |