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Article

Multifocal Neuroblastoma in Rubinstein-Taybi Syndrome Harboring a Novel CREBBP Variant Identified by Paired Whole Genome Sequencing.

Congenital anomalies - 1 Jan 2026

Fushimi Yuki, Kawai Yasuhiro, Keino Dai, Tanaka Mio, Takuya Naruto, Sekiguchi Masahiro, Kato Motohiro, Kuroda Yukiko

Abstract excerpt

Rubinstein-Taybi syndrome (RTS) is caused by germline loss-of-function variants of CREBBP or EP300, which function as histone acetyltransferases and act as tumor suppressors. Various benign or malignant tumors have been reported in RTS, suggesting tumor predisposition. To date, five patients with RTS complicated by neuroblastoma have been reported, and pathogenic germline variants were confirmed in two of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to E1A-Associated p300 Protein

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Source

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Identifiers

PMID: 42348365
DOI: 10.1002/cga.70068
PMCID: PMC13422678

Genes

CREBBP
EP300

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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