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Article

In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.

Human mutation - 1 Jan 2026

Novillo Apolonia, Ysbert Marta, Brea Rocío, Hidalgo-Estévez Alicia María, El Abdellaoui-Soussi Fadoua, Gómez-Del Arco Pablo

Abstract excerpt

Chromodomain-helicase-DNA-binding protein 4 (CHD4) is a critical ATP-dependent chromatin remodeler that plays fundamental roles in transcriptional repression, DNA damage repair, and lineage specification, making it indispensable for cardiovascular development and function. Pathogenic CHD4 mutations are linked to syndromic and nonsyndromic conditions, often presenting with severe cardiac and vascular anomalies....

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Identifiers

PMID: 41756679
DOI: 10.1155/humu/3575977
PMCID: PMC12935301

Genes

CHD4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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