Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

doi:10.1016/j.xhgg.2024.100287

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Article

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

HGG advances - 18 Jul 2024

Haghshenas Sadegheh, Bout Hidde J, Schijns Josephine M, Levy Michael A, Kerkhof Jennifer, Bhai Pratibha, McConkey Haley, Jenkins Zandra A, Williams Ella M, Halliday Benjamin J, Huisman Sylvia A, Lauffer Peter, de Waard Vivian, Witteveen Laura, Banka Siddharth, Brady Angela F, Galazzi Elena, van Gils Julien, Hurst Anna C E, Kaiser Frank J, Lacombe Didier, Martinez-Monseny Antonio F, Fergelot Patricia, Monteiro Fabíola P, Parenti Ilaria, Persani Luca, Santos-Simarro Fernando, Simpson Brittany N, Alders Mariëlle, Robertson Stephen P, Sadikovic Bekim, Menke Leonie A

Abstract excerpt

CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense and in-frame indel variants in parts of exons 30 and 31 cause phenotypes recently...

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Identifiers

PMID: 38553851
DOI: 10.1016/j.xhgg.2024.100287
PMCID: PMC11040166

Genes

ID4
CREBBP
EP300

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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