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Article

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

European journal of human genetics : EJHG - 1 Aug 2007

Zimmermann Nicole, Acosta Ana Maria Bravo Ferrer, Kohlhase Jürgen, Bartsch Oliver

Abstract excerpt

The Rubinstein-Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian disorder with typical face, short stature, skeletal abnormalities, and mental retardation, is usually caused by heterozygous mutations of the CREBBP gene, but recently, EP300 gene mutations were reported in three individuals. Using quantitative PCR (for the CREBBP and EP300 genes) and genomic sequencing (for the EP300 gene), we studied here 13...

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Source

Identifiers

PMID: 17299436
DOI: 10.1038/sj.ejhg.5201791

Genes

CREBBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.PMID 17299436Read ↗

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.Semantic proximity Read ↗

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.Semantic proximity Read ↗

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.Semantic proximity Read ↗

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.Semantic proximity Read ↗

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Semantic proximity Read ↗

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.Semantic proximity Read ↗

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Somatic and germ‐line mosaicism in Rubinstein–Taybi syndromeSemantic proximity Read ↗

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patientsSemantic proximity Read ↗

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.Semantic proximity Read ↗

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.Semantic proximity Read ↗

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