Article

Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene

2025-10-12

Abstract excerpt

<h4>ABSTRACT</h4> Congenital heart disease (CHD) remains a major cause of pediatric morbidity and mortality, yet its genetic underpinnings are not fully understood. Two studies independently identified rare deletions in ARHGAP10 (GAP10), a Rho GTPase-activating protein located at 4q31.2 in individuals with heterotaxy and atrial septal defects (n=2 rare copy number variants (CNVs)), highlighting GAP10 as a new can...

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Literature Corpus work: e9376877-6ae8-5ca6-97c0-84f6d3212b30
DOI: 10.1101/2025.10.10.681676

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