NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

Nobuyoshi Azuma; Tetsuro Uchida; Shinsuke Kikuchi; Mitsuaki Sadahiro; Tsunehiro Shintani; Kumiko Yanagi; Ryuji Higashita; Atsushi Yamashita; Yoshio Makita; Tadashi Kaname

doi:10.1253/circj.CJ-20-0153

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NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

Nobuyoshi Azuma, Tetsuro Uchida, Shinsuke Kikuchi, Mitsuaki Sadahiro, Tsunehiro Shintani, Kumiko Yanagi, Ryuji Higashita, Atsushi Yamashita, Yoshio Makita, Tadashi Kaname

Author information

Nobuyoshi Azuma
Department of Vascular Surgery, Asahikawa Medical University [Japan]
Tetsuro Uchida
Division of Cardiovascular Surgery, Department of Surgery II, Yamagata University [Japan]
Shinsuke Kikuchi
Department of Vascular Surgery, Asahikawa Medical University [Japan]
Mitsuaki Sadahiro
Division of Cardiovascular Surgery, Department of Surgery II, Yamagata University [Japan]
Tsunehiro Shintani
Department of Vascular Surgery, Shizuoka Red Cross Hospital [Japan]
Kumiko Yanagi
Department of Genome Medicine, National Center for Child Health and Development [Japan]
Ryuji Higashita
Department of Cardiovascular Surgery, Yokohama General Hospital [Japan]
Atsushi Yamashita
Division of Cardiovascular Surgery, Department of Surgery II, Yamagata University [Japan]
Yoshio Makita
Education Center, Asahikawa Medical University [Japan]
Tadashi Kaname
Department of Genome Medicine, National Center for Child Health and Development [Japan]

Keywords: Calcification of joints and arteries, Chronic limb-threatening ischemia, Intermittent claudication, NT5E gene, Peripheral artery calcification

JOURNAL OPEN ACCESS FULL-TEXT HTML

2020 Volume 84 Issue 7 Pages 1183-1188

DOI https://doi.org/10.1253/circj.CJ-20-0153

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Abstract

Background:NT5Egenetic 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 withNT5Emutations reported in other countries.

Conclusions:Vascular specialists need to recognize CALJA as a rare cause of ischemic IC and CLTI.

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