Second, in vascular studies, familial segregation analysis revealed that NFX1 c.2519T>C (p.Leu840Pro) was associated with intracranial aneurysms, a cerebrovascular disorder; this NFX1 point mutation was found in only cases and was absent among unaffected family members [25], linking NFX1 as a genetic risk factor for these familial intracranial aneurysms. The gene discussed is NFX1; the disease is Dilatation of the cerebral artery.