Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm.

ABSTRACT:

Objective

Familial intracranial aneurysms (FIAs) are found in approximately 6%-20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA.

Materials and methods

Among the 26 families in our institutional database with two or more IA-affected first-degree relatives, three families that were genetically enriched (multiple, early onset, or common site involvement within the families) for IA were selected for WES. Filtering strategies, including a family-based approach and knowledge-based prioritization, were applied to derive possible IA-associated variants from the f

SUBMITTER: Song Y 

PROVIDER: S-EPMC8743149 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature