Functional Enrichment Analysis of Rare Mutations in Patients with Brain Arteriovenous Malformations.

ABSTRACT: Background/Objectives: Brain arteriovenous malformations (bAVMs) are rare vascular anomalies characterized by direct connections between arteries and veins, bypassing the capillary network. This study aimed to identify potential genetic factors contributing to the development of sporadic bAVMs. Methods: Three patients (AVM1-3) from Kazakhstan who underwent microsurgical resection at the National Centre for Neurosurgery (NCN) in Astana, Kazakhstan, were analyzed. Brain AVMs were diagnosed using magnetic resonance imaging (MRI). Genomic DNA was isolated from whole venous blood samples, and whole-exome sequencing was performed on the NovaSeq 6000 platform (Illumina). Variants were filtered according to standard bioinformatics protocols, and candidate gene prioritization was cond

SUBMITTER: Zholdybayeva E 

PROVIDER: S-EPMC12191260 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature