ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.

ABSTRACT:

Purpose

To understand the role of the angiopoietin-like 6 gene (ANGPTL6) in intracranial aneurysms (IAs), we investigated its role in a large cohort of familial IAs.

Methods

Individuals with family history of IA were recruited to the Genetic and Observational Subarachnoid Haemorrhage (GOSH) study. The ANGPTL6 gene was sequenced using Sanger sequencing. Identified genetic variants were compared to a control population.

Results

We found 6 rare ANGPTL6 genetic variants in 9/275 individuals with a family history of IA (3.3%) (5 missense mutations and 1 nonsense mutation leading to a premature stop codon), none present in controls. One of these had been previously reported: c.392A>T (p.Glu131Val) on exon 2; another was very close: c.332G>A (p.Arg111His

SUBMITTER: Hostettler IC 

PROVIDER: S-EPMC8105901 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature