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.
Keywords:
Calcification of joints and arteries; Chronic limb-threatening ischemia; Intermittent claudication; NT5E gene; Peripheral artery calcification.
MeSH terms
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5'-Nucleotidase / genetics*
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Adult
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Aged
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Aged, 80 and over
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Calcinosis / diagnosis
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Calcinosis / enzymology
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Calcinosis / genetics*
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Chronic Disease
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Exome Sequencing
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Exons
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Female
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GPI-Linked Proteins / genetics
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Genetic Predisposition to Disease
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Humans
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Intermittent Claudication / diagnosis
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Intermittent Claudication / enzymology
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Intermittent Claudication / genetics*
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Ischemia / diagnosis
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Ischemia / enzymology
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Ischemia / genetics*
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Joint Diseases / diagnosis
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Joint Diseases / enzymology
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Joint Diseases / genetics*
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Male
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Middle Aged
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Mutation*
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Phenotype
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Vascular Calcification / diagnostic imaging
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Vascular Calcification / enzymology
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Vascular Calcification / genetics*
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Vascular Diseases / diagnosis
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Vascular Diseases / enzymology
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Vascular Diseases / genetics*
Substances
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GPI-Linked Proteins
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5'-Nucleotidase
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NT5E protein, human
Supplementary concepts
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Calcification of Joints and Arteries