NT5E genetic mutation is a rare but important cause of intermittent claudication and chronic limb-threatening ischemia

Abstract

Background: NT5E genetic mutations are known to result in calcification of joints and arteries (CALJA), and worldwide, 14 patients from 7 families have been reported. Methods and Results: A total of 5 patients from 2 independent families with CALJA were found in Japan. Of them, 3 complained of intermittent claudication (IC), and 1 suffered from bilateral chronic limb-threatening ischemia (CLTI). Whole-exome sequencing analysis revealed an identical mutation pattern (c.G3C on the exon 1 start codon) that was unique compared with NT5E mutations reported in other countries. Conclusions: Vascular specialists need to recognize CALJA as a rare cause of ischemic IC and CLTI.