present in Gene: EP300
present in Chromosome: 22
Position on Chromosome: 41131612
Alleles of this Variant: -/T
rs1555907749 in
EP300 gene and
Multiple congenital anomalies
PMID 26279656 2015 Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.
PMID 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
PMID 27465822 2016 Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
PMID 25712426 2015 Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
PMID 19353645 2009 Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
PMID 24476420 2015 Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
PMID 16428436 2006 Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development.
PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
PMID 24352918 2014 Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
PMID 20717166 2011 Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
PMID 11331617 2001 Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
PMID 17299436 2007 Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
PMID 20014264 2010 Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
PMID 27648933 2016 Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
PMID 27964710 2016 First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.