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Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.

Psychiatric genetics - 1 Feb 2025

Ji Qinghong, Ma Weihong, Xin Gang, Xin Qian, Duan Shuhong, Ding Mingxia, Dong Lihua, Li Zhiqiang, Hong Fanzhen

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, we aimed to describe the clinical manifestations and genetic analyses of two cases with RSTS. Clinical analysis was performed on two cases with RSTS. Molecular diagnoses were...

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Identifiers

PMID: 39748797
DOI: 10.1097/YPG.0000000000000381

Genes

CREBBP
EP300

Variants

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Research trail→

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Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.PMID 39748797Read ↗

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.Semantic proximity Read ↗

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

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.Semantic proximity Read ↗

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

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case ReportSemantic proximity Read ↗

Rubinstein-Taybi syndrome in Chinese population with four novel mutations.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 ↗

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

[Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].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 ↗

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