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

Genetic risk factors play an important role in the pathogenesis of familial intracranial aneurysms (FIAs); however, the molecular mechanisms remain largely unknown.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.Exome sequencing (ES) was performed in a dominant likely family with intracranial aneurysms...