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Article

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Scientific reports - 5 Aug 2021

Park Jong Eun, Kim Eunmi, Lee Dong-Won, Park Taek Kyu, Kim Min Sun, Jang Shin Yi, Ahn Jaemyung, Park Kwang Bo, Kim Keon-Ha, Park Hae-Chul, Ki Chang-Seok, Kim Duk-Kyung

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is a human genetic disorder characterized by distinctive craniofacial features, broad thumbs and halluces, and intellectual disability. Mutations in the CREB binding protein (CREBBP) and E1A binding protein p300 (EP300) are the known causes of RSTS disease. EP300 regulates transcription via chromatin remodeling and plays an important role in cell proliferation and differentiation....

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Identifiers

PMID: 34354133
DOI: 10.1038/s41598-021-95133-0
PMCID: PMC8342626

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Related research

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Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.PMID 34354133Read ↗

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

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

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Semantic proximity Read ↗

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

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.Semantic proximity Read ↗

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.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 ↗

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.Semantic proximity Read ↗

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

Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

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

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.Semantic proximity Read ↗

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