Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.

ABSTRACT:

Objective

Genetic risk factors for unruptured intracranial aneurysms (UIA) and aneurysmal subarachnoid hemorrhage (aSAH) are poorly understood. We aimed to verify recently reported risk genes and to identify novel sequence variants involved in the etiology of UIA/aSAH.

Methods

We performed exome sequencing (ES) in 35 unrelated individuals and 3 family members, each with a history of UIA and/or aSAH. We searched for sequence variants with minor allele frequency (MAF) ≤ 5% in the reported risk genes ADAMTS15, ANGPTL6, ARHGEF17, LOXL2, PCNT, RNF213, THSD1 and TMEM132B. To identify novel putative risk genes we looked for unknown (MAF = 0) variants shared by the three relatives.

Results

We identified 20 variants with MAF ≤ 5% in 18 individuals: 9 variants in PCNT (9 patien

SUBMITTER: Sauvigny T 

PROVIDER: S-EPMC7419486 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature