ArticleNPJ genomic medicine2026
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.
Article in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Moyamoya disease (MMD) is a progressive cerebrovascular disorder with intracranial arterial stenosis and collateralization. Over 70% of sporadic cases lack known genetic drivers; RNF213 variants explain only 23% of Chinese cases, highlighting unmet diagnostic and therapeutic needs. Trio-based whole-exome sequencing (WES) of 126 Chinese sporadic MMD patients (30 pediatric-parent trios) underwent cross-platform validation, cohort screening (n = 268), and functional analysis in human brain microvascular endothelial cells (HBMECs). Variants were prioritized by population frequency, pathogenicity, and case-control comparisons. Endothelial function and oxidative stress were assessed via proliferation, migration, tube formation, and molecular markers. WES identified 42 rare sporadic and 15 de novo mutations; Sanger validation confirmed 11 sporadic/11 de novo variants including de novo NF1 p.Q2002X and recurrent CARS1 p.E712V. CARS1 p.E712V carriers showed early-onset stenosis (mean age 7.5 ± 4.4 years) and right-dominant Suzuki stage ≥4, while NF1 p.Q2002X correlated with severe bilateral stenosis in a child (onset age 3). CARS1 p.E712V showed significant patient enrichment (P = 0.004). Silencing NF1/CARS1 in HBMECs enhanced proliferation, migration, tube formation, and reduced GPX4 (CARS1-specific). CARS1 mutation augmented angiogenesis, indicating functional alteration. This study identifies NF1 and CARS1 as novel susceptibility genes for sporadic MMD in Chinese, expanding the genetic landscape beyond RNF213.
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