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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 |
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| Main Authors: | , , , , , , , , , |
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| cites | cdi_FETCH-LOGICAL-c622t-5db20bce8b467971aa6c31ba2b0ae1cf7f22e45f7cc5b098667e21bd30d5af5a3 |
| container_end_page | 1188 |
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| container_title | Circulation Journal |
| container_volume | 84 |
| creator | Azuma, Nobuyoshi Uchida, Tetsuro Kikuchi, Shinsuke Sadahiro, Mitsuaki Shintani, Tsunehiro Yanagi, Kumiko Higashita, Ryuji Yamashita, Atsushi Makita, Yoshio Kaname, Tadashi |
| description | 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. |
| doi_str_mv | 10.1253/circj.CJ-20-0153 |
| format | article |
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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.</description><identifier>ISSN: 1346-9843</identifier><identifier>ISSN: 1347-4820</identifier><identifier>EISSN: 1347-4820</identifier><identifier>DOI: 10.1253/circj.CJ-20-0153</identifier><identifier>PMID: 32522903</identifier><language>eng</language><publisher>Japan: The Japanese Circulation Society</publisher><subject>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</subject><ispartof>Circulation Journal, 2020/06/25, Vol.84(7), pp.1183-1188</ispartof><rights>2020 THE JAPANESE CIRCULATION SOCIETY</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c622t-5db20bce8b467971aa6c31ba2b0ae1cf7f22e45f7cc5b098667e21bd30d5af5a3</citedby><cites>FETCH-LOGICAL-c622t-5db20bce8b467971aa6c31ba2b0ae1cf7f22e45f7cc5b098667e21bd30d5af5a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32522903$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Azuma, Nobuyoshi</creatorcontrib><creatorcontrib>Uchida, Tetsuro</creatorcontrib><creatorcontrib>Kikuchi, Shinsuke</creatorcontrib><creatorcontrib>Sadahiro, Mitsuaki</creatorcontrib><creatorcontrib>Shintani, Tsunehiro</creatorcontrib><creatorcontrib>Yanagi, Kumiko</creatorcontrib><creatorcontrib>Higashita, Ryuji</creatorcontrib><creatorcontrib>Yamashita, Atsushi</creatorcontrib><creatorcontrib>Makita, Yoshio</creatorcontrib><creatorcontrib>Kaname, Tadashi</creatorcontrib><title>NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia</title><title>Circulation Journal</title><addtitle>Circ J</addtitle><description>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.</description><subject>5'-Nucleotidase - genetics</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Calcification of joints and arteries</subject><subject>Calcinosis - diagnosis</subject><subject>Calcinosis - enzymology</subject><subject>Calcinosis - genetics</subject><subject>Chronic Disease</subject><subject>Chronic limb-threatening ischemia</subject><subject>Exome Sequencing</subject><subject>Exons</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>GPI-Linked Proteins - genetics</subject><subject>Humans</subject><subject>Intermittent claudication</subject><subject>Intermittent Claudication - diagnosis</subject><subject>Intermittent Claudication - enzymology</subject><subject>Intermittent Claudication - genetics</subject><subject>Ischemia - diagnosis</subject><subject>Ischemia - enzymology</subject><subject>Ischemia - genetics</subject><subject>Joint Diseases - diagnosis</subject><subject>Joint Diseases - enzymology</subject><subject>Joint Diseases - genetics</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>NT5E gene</subject><subject>Peripheral artery calcification</subject><subject>Phenotype</subject><subject>Vascular Calcification - diagnostic imaging</subject><subject>Vascular Calcification - enzymology</subject><subject>Vascular Calcification - genetics</subject><subject>Vascular Diseases - diagnosis</subject><subject>Vascular Diseases - enzymology</subject><subject>Vascular Diseases - genetics</subject><issn>1346-9843</issn><issn>1347-4820</issn><issn>1347-4820</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNpFkE1P3DAQhq2KCijl3hPykUuoP-J8HCHiY9G2lart2Ro7E9arxFlsB4l_T5bdwmVmNHre5_AS8oOzKy6U_GldsJur5jETLGNcyS_klMu8zPJKsKP3u8jqKpcn5FuMG8ZEzVR9TE6kUGK-5Sl5-b1St_QePSZn6a8pQXKjp4tIgf6FgPRmSnQxbMeQwCfawBSRjh1d-IRhcCnh7tvD1Dq7j4JvabMOo599SzeYbLUOCDPn_NPstWscHHwnXzvoI54f9hn5d3e7ah6y5Z_7RXO9zGwhRMpUawQzFiuTF2VdcoDCSm5AGAbIbVd2QmCuutJaZVhdFUWJgptWslZBp0Cekcu9dxvG5wlj0oOLFvsePI5T1CLnQvBaKTmjbI_aMMYYsNPb4AYIr5ozvWtbv7etm0ctmN61PUcuDvbJDNh-BP7XOwN3e2ATEzzhBwBhbrvHg7HKdbkbn-ZPYA1Bo5dvTjqWLg</recordid><startdate>20200625</startdate><enddate>20200625</enddate><creator>Azuma, Nobuyoshi</creator><creator>Uchida, Tetsuro</creator><creator>Kikuchi, Shinsuke</creator><creator>Sadahiro, Mitsuaki</creator><creator>Shintani, Tsunehiro</creator><creator>Yanagi, Kumiko</creator><creator>Higashita, Ryuji</creator><creator>Yamashita, Atsushi</creator><creator>Makita, Yoshio</creator><creator>Kaname, Tadashi</creator><general>The Japanese Circulation Society</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20200625</creationdate><title>NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia</title><author>Azuma, Nobuyoshi ; Uchida, Tetsuro ; Kikuchi, Shinsuke ; Sadahiro, Mitsuaki ; Shintani, Tsunehiro ; Yanagi, Kumiko ; Higashita, Ryuji ; Yamashita, Atsushi ; Makita, Yoshio ; Kaname, Tadashi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c622t-5db20bce8b467971aa6c31ba2b0ae1cf7f22e45f7cc5b098667e21bd30d5af5a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>5'-Nucleotidase - genetics</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Calcification of joints and arteries</topic><topic>Calcinosis - diagnosis</topic><topic>Calcinosis - enzymology</topic><topic>Calcinosis - genetics</topic><topic>Chronic Disease</topic><topic>Chronic limb-threatening ischemia</topic><topic>Exome Sequencing</topic><topic>Exons</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>GPI-Linked Proteins - genetics</topic><topic>Humans</topic><topic>Intermittent claudication</topic><topic>Intermittent Claudication - diagnosis</topic><topic>Intermittent Claudication - enzymology</topic><topic>Intermittent Claudication - genetics</topic><topic>Ischemia - diagnosis</topic><topic>Ischemia - enzymology</topic><topic>Ischemia - genetics</topic><topic>Joint Diseases - diagnosis</topic><topic>Joint Diseases - enzymology</topic><topic>Joint Diseases - genetics</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>NT5E gene</topic><topic>Peripheral artery calcification</topic><topic>Phenotype</topic><topic>Vascular Calcification - diagnostic imaging</topic><topic>Vascular Calcification - enzymology</topic><topic>Vascular Calcification - genetics</topic><topic>Vascular Diseases - diagnosis</topic><topic>Vascular Diseases - enzymology</topic><topic>Vascular Diseases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Azuma, Nobuyoshi</creatorcontrib><creatorcontrib>Uchida, Tetsuro</creatorcontrib><creatorcontrib>Kikuchi, Shinsuke</creatorcontrib><creatorcontrib>Sadahiro, Mitsuaki</creatorcontrib><creatorcontrib>Shintani, Tsunehiro</creatorcontrib><creatorcontrib>Yanagi, Kumiko</creatorcontrib><creatorcontrib>Higashita, Ryuji</creatorcontrib><creatorcontrib>Yamashita, Atsushi</creatorcontrib><creatorcontrib>Makita, Yoshio</creatorcontrib><creatorcontrib>Kaname, Tadashi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Circulation Journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Azuma, Nobuyoshi</au><au>Uchida, Tetsuro</au><au>Kikuchi, Shinsuke</au><au>Sadahiro, Mitsuaki</au><au>Shintani, Tsunehiro</au><au>Yanagi, Kumiko</au><au>Higashita, Ryuji</au><au>Yamashita, Atsushi</au><au>Makita, Yoshio</au><au>Kaname, Tadashi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia</atitle><jtitle>Circulation Journal</jtitle><addtitle>Circ J</addtitle><date>2020-06-25</date><risdate>2020</risdate><volume>84</volume><issue>7</issue><spage>1183</spage><epage>1188</epage><pages>1183-1188</pages><issn>1346-9843</issn><issn>1347-4820</issn><eissn>1347-4820</eissn><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.</abstract><cop>Japan</cop><pub>The Japanese Circulation Society</pub><pmid>32522903</pmid><doi>10.1253/circj.CJ-20-0153</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| 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 |
| title | NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia |
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