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

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 intermitt...

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Published in:Circulation Journal 2020/06/25, Vol.84(7), pp.1183-1188
Main Authors: Azuma, Nobuyoshi, Uchida, Tetsuro, Kikuchi, Shinsuke, Sadahiro, Mitsuaki, Shintani, Tsunehiro, Yanagi, Kumiko, Higashita, Ryuji, Yamashita, Atsushi, Makita, Yoshio, Kaname, Tadashi
Format: Article
Language:English
Subjects:
5'-Nucleotidase - genetics
Adult
Aged
Aged, 80 and over
Calcification of joints and arteries
Calcinosis - diagnosis
Calcinosis - enzymology
Calcinosis - genetics
Chronic Disease
Chronic limb-threatening ischemia
Exome Sequencing
Exons
Female
Genetic Predisposition to Disease
GPI-Linked Proteins - genetics
Humans
Intermittent claudication
Intermittent Claudication - diagnosis
Intermittent Claudication - enzymology
Intermittent Claudication - genetics
Ischemia - diagnosis
Ischemia - enzymology
Ischemia - genetics
Joint Diseases - diagnosis
Joint Diseases - enzymology
Joint Diseases - genetics
Male
Middle Aged
Mutation
NT5E gene
Peripheral artery calcification
Phenotype
Vascular Calcification - diagnostic imaging
Vascular Calcification - enzymology
Vascular Calcification - genetics
Vascular Diseases - diagnosis
Vascular Diseases - enzymology
Vascular Diseases - genetics
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Summary: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.
ISSN:1346-9843
1347-4820
1347-4820
DOI:10.1253/circj.CJ-20-0153