Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.

ABSTRACT:

Background

Genetic risk factors play an important role in the pathogenesis of familial intracranial aneurysms (FIAs); however, the molecular mechanisms remain largely unknown.

Objective

To investigate potential FIA-causing genetic variants by rare variant interrogation and a family-based genomics approach in a large family with an extensive multigenerational pedigree with FIAs.

Method

Exome sequencing (ES) was performed in a dominant likely family with intracranial aneurysms (IAs). Variants were analyzed by an in-house developed pipeline and prioritized using various filtering strategies, including population frequency, variant type, and predicted variant pathogenicity. Sanger sequencing was also performed to evaluate the segregation of the variants with the phenotype

SUBMITTER: Ding X 

PROVIDER: S-EPMC7014815 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature