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

ABSTRACT: 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. However, most of these mutations are unique and nonrecurrent, complicating variant classification. In this study, we establish a connection between recent advances in CHD4 structure and function and 36 pathogenic CHD4 mutations associated with rare diseases, including Sifrim-Hitz-Weiss syndrome, moyamoya angiopathy, and childhood idiopathic epilepsy with sinus arrhythmi

SUBMITTER: Novillo A 

PROVIDER: S-EPMC12935301 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature