ArticleMolecular genetics & genomic medicine2019
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations.Frontiers in cell and developmental biology · 2026Review
- DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome.International journal of molecular sciences · 2025Article
- Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.Genes · 2025Article
- Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.Molecular syndromology · 2025Article
- Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer.Cell genomics · 2025Article
- Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.Frontiers in genetics · 2025Article
- Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.Journal of medical genetics · 2024Review
- Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome.European journal of human genetics : EJHG · 2023Article
- The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.American journal of medical genetics. Part A · 2022Article
- A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.BMC medical genomics · 2022Article
- [Syndroms associated with benign skin tumors].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2022Review
- Reprogramming of the epigenome in neurodevelopmental disorders.Critical reviews in biochemistry and molecular biology · 2022Review
- Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.Molecular genetics & genomic medicine · 2021Article
- Review
- New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.Molecular genetics & genomic medicine · 2019Article
- Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome.Anais brasileiros de dermatologiaArticle
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Authors and funding
12 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied and overlap with other syndromes' phenotype, which makes clinical diagnosis challenging. 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. A wide range of CREBBP pathogenic variants have been reported so far, including point mutations (30%-50%) and large deletions (10%).
methodsThe aim of this study was to characterize the CREBBP genetic variant spectrum in 39 RSTS patients using Multiplex Ligation-dependent Probe Amplification and DNA sequencing techniques (Sanger and Trio-based whole-exome sequencing).
resultsWe identified 15 intragenic deletions/duplications, ranging from one exon to the entire gene. As a whole, 25 de novo point variants were detected: 4 missense, 12 nonsense, 5 frameshift, and 4 splicing pathogenic variants. Three of them were classified as of uncertain significance and one of the patients carried two different variants.
conclusionSeventeen of the 40 genetic variants detected were reported for the first time in this work contributing, thus, to expand the molecular knowledge of this complex disorder.
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