Discovery of a novel mutation in the REN gene in patient with chronic progressive kidney disease of unknown etiology presenting with acute spontaneous carotid artery dissection.

Most dissections of extracranial arteries involve some mechanical stress or connective tissue abnormalities. In the absence of these disorders, determining the etiology is challenging. Genetic factors may play an important pathophysiologic role. We report on a 36-year-old male with the right internal carotid artery dissection and a novel genetic variant in the REN gene. Our report offers evidence that mutations in the REN gene could have pathogenic role in arterial dissection. The subject gave written informed consent for the publication of this case report. The authors declare no conflict of interest.