Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation.

ABSTRACT:

Background

Brain arteriovenous malformations (BAVMs) are abnormal vessels that are apt to rupture, causing life-threatening intracranial hemorrhage (ICH). The estimated prevalence of BAVMs is 0.05% among otherwise healthy individuals. In this study, we aim to investigate the mutational spectrum of syndromic genes in sporadic BAVM.

Methods

We recruited a cohort of 150 patients with BAVM and performed whole-exome sequencing on their peripheral blood DNA. To explore the mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation, we selected six genes according to the Online Mendelian Inheritance in Man (OMIM) and literature. All variants in the six candidate genes were extracted and underwent filtering for qualifying variants.

Results

There are a

SUBMITTER: Wang K 

PROVIDER: S-EPMC8867132 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature