Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation
Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codo...
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| Veröffentlicht in: | Internal Medicine 2019/02/15, Vol.58(4), pp.603-607 |
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| creator | Yamamoto, Saori Nagasawa, Tasuku Sugimura, Koichiro Kanno, Atsuhiro Tatebe, Shunsuke Aoki, Tatsuo Sato, Haruka Kozu, Katsuya Konno, Ryo Nochioka, Kotaro Satoh, Kimio Shimokawa, Hiroaki |
| description | Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codon 301) resulting in the replacement of a glutamine with an arginine residue]. We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). Although all 10 cases had cardiac and renal manifestations in common, their clinical manifestations were markedly divergent despite the same genetic abnormality. |
| doi_str_mv | 10.2169/internalmedicine.0959-18 |
| format | Article |
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We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codon 301) resulting in the replacement of a glutamine with an arginine residue]. We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). Although all 10 cases had cardiac and renal manifestations in common, their clinical manifestations were markedly divergent despite the same genetic abnormality.</description><identifier>ISSN: 0918-2918</identifier><identifier>EISSN: 1349-7235</identifier><identifier>DOI: 10.2169/internalmedicine.0959-18</identifier><identifier>PMID: 30333391</identifier><language>eng</language><publisher>Japan: The Japanese Society of Internal Medicine</publisher><subject>Anderson-Fabry disease ; Arginine ; Case Report ; Enzymatic activity ; Fabry's disease ; Galactosidase ; Glutamine ; hypertrophic cardiomyopathy ; Internal medicine ; Mutation ; renal failure ; ɑ-galactosidase mutant (R301Q)</subject><ispartof>Internal Medicine, 2019/02/15, Vol.58(4), pp.603-607</ispartof><rights>2019 by The Japanese Society of Internal Medicine</rights><rights>Copyright Japan Science and Technology Agency 2019</rights><rights>Copyright © 2019 by The Japanese Society of Internal Medicine 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c609t-31339b26a82343f7ca5a846d81d882ed40b44a94b7b260592fd6f4c1fc05a9ad3</citedby><cites>FETCH-LOGICAL-c609t-31339b26a82343f7ca5a846d81d882ed40b44a94b7b260592fd6f4c1fc05a9ad3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421142/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421142/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,1877,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30333391$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yamamoto, Saori</creatorcontrib><creatorcontrib>Nagasawa, Tasuku</creatorcontrib><creatorcontrib>Sugimura, Koichiro</creatorcontrib><creatorcontrib>Kanno, Atsuhiro</creatorcontrib><creatorcontrib>Tatebe, Shunsuke</creatorcontrib><creatorcontrib>Aoki, Tatsuo</creatorcontrib><creatorcontrib>Sato, Haruka</creatorcontrib><creatorcontrib>Kozu, Katsuya</creatorcontrib><creatorcontrib>Konno, Ryo</creatorcontrib><creatorcontrib>Nochioka, Kotaro</creatorcontrib><creatorcontrib>Satoh, Kimio</creatorcontrib><creatorcontrib>Shimokawa, Hiroaki</creatorcontrib><title>Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation</title><title>Internal Medicine</title><addtitle>Intern. Med.</addtitle><description>Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codon 301) resulting in the replacement of a glutamine with an arginine residue]. We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). Although all 10 cases had cardiac and renal manifestations in common, their clinical manifestations were markedly divergent despite the same genetic abnormality.</description><subject>Anderson-Fabry disease</subject><subject>Arginine</subject><subject>Case Report</subject><subject>Enzymatic activity</subject><subject>Fabry's disease</subject><subject>Galactosidase</subject><subject>Glutamine</subject><subject>hypertrophic cardiomyopathy</subject><subject>Internal medicine</subject><subject>Mutation</subject><subject>renal failure</subject><subject>ɑ-galactosidase mutant (R301Q)</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><recordid>eNplkU9P3DAQxa0KVLa0X6GK1Esvof6XxL5UQgu0lShQ1J6tiTNhvco61HZA--3r1S4rCj6MD-83b8Z-hBSMnnBW6y_OJwwehhV2zjqPJ1RXumTqDZkxIXXZcFEdkBnVTJU8lyPyLsYlpUI1mr8lR4KKfDSbkdv54LyzMBRn7gFDdGldOF_cQHLoUyweXVoUp77L0ujLHtqwzmREiLjV0gKLW0HZr-LnlHLX6N-Twx6GiB929zH5c3H-e_69vLz-9mN-elnamupUCpY3aHkNigsp-sZCBUrWnWKdUhw7SVspQcu2yRCtNO-7upeW9ZZWoKETx-Tr1vd-avNH2LxvgMHcB7eCsDYjOPO_4t3C3I0PppacMcmzweedQRj_ThiTWblocRjA4zhFwxnnlWpUwzL66QW6HKdNApnista8olRmSm0pG8YYA_b7ZRg1m-DMy-DMJjjDVG79-Pwx-8anpDJwtQWWMcEd7gEIydkBXztXyshN2U3Yg3YBwaAX_wBshra_</recordid><startdate>20190215</startdate><enddate>20190215</enddate><creator>Yamamoto, Saori</creator><creator>Nagasawa, Tasuku</creator><creator>Sugimura, Koichiro</creator><creator>Kanno, Atsuhiro</creator><creator>Tatebe, Shunsuke</creator><creator>Aoki, Tatsuo</creator><creator>Sato, Haruka</creator><creator>Kozu, Katsuya</creator><creator>Konno, Ryo</creator><creator>Nochioka, Kotaro</creator><creator>Satoh, Kimio</creator><creator>Shimokawa, Hiroaki</creator><general>The Japanese Society of Internal Medicine</general><general>Japan Science and Technology Agency</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7U9</scope><scope>H94</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20190215</creationdate><title>Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation</title><author>Yamamoto, Saori ; Nagasawa, Tasuku ; Sugimura, Koichiro ; Kanno, Atsuhiro ; Tatebe, Shunsuke ; Aoki, Tatsuo ; Sato, Haruka ; Kozu, Katsuya ; Konno, Ryo ; Nochioka, Kotaro ; Satoh, Kimio ; Shimokawa, Hiroaki</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c609t-31339b26a82343f7ca5a846d81d882ed40b44a94b7b260592fd6f4c1fc05a9ad3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Anderson-Fabry disease</topic><topic>Arginine</topic><topic>Case Report</topic><topic>Enzymatic activity</topic><topic>Fabry's disease</topic><topic>Galactosidase</topic><topic>Glutamine</topic><topic>hypertrophic cardiomyopathy</topic><topic>Internal medicine</topic><topic>Mutation</topic><topic>renal failure</topic><topic>ɑ-galactosidase mutant (R301Q)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yamamoto, Saori</creatorcontrib><creatorcontrib>Nagasawa, Tasuku</creatorcontrib><creatorcontrib>Sugimura, Koichiro</creatorcontrib><creatorcontrib>Kanno, Atsuhiro</creatorcontrib><creatorcontrib>Tatebe, Shunsuke</creatorcontrib><creatorcontrib>Aoki, Tatsuo</creatorcontrib><creatorcontrib>Sato, Haruka</creatorcontrib><creatorcontrib>Kozu, Katsuya</creatorcontrib><creatorcontrib>Konno, Ryo</creatorcontrib><creatorcontrib>Nochioka, Kotaro</creatorcontrib><creatorcontrib>Satoh, Kimio</creatorcontrib><creatorcontrib>Shimokawa, Hiroaki</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yamamoto, Saori</au><au>Nagasawa, Tasuku</au><au>Sugimura, Koichiro</au><au>Kanno, Atsuhiro</au><au>Tatebe, Shunsuke</au><au>Aoki, Tatsuo</au><au>Sato, Haruka</au><au>Kozu, Katsuya</au><au>Konno, Ryo</au><au>Nochioka, Kotaro</au><au>Satoh, Kimio</au><au>Shimokawa, Hiroaki</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. Med.</addtitle><date>2019-02-15</date><risdate>2019</risdate><volume>58</volume><issue>4</issue><spage>603</spage><epage>607</epage><pages>603-607</pages><issn>0918-2918</issn><eissn>1349-7235</eissn><abstract>Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codon 301) resulting in the replacement of a glutamine with an arginine residue]. We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). 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| subjects | Anderson-Fabry disease Arginine Case Report Enzymatic activity Fabry's disease Galactosidase Glutamine hypertrophic cardiomyopathy Internal medicine Mutation renal failure ɑ-galactosidase mutant (R301Q) |
| title | Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation |
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