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A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia
Hereditary angioedema (HAE) is a life-threatening disease associated with recurrent episodes of subcutaneous and mucosal swelling, painful abdominal cramping, and asphyxiation. HAE has long been thought to be caused by genetic defects of C1 inhibitors (C1-INH). Recently, HAE with a normal C1 inhibit...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Japanese Society of Internal Medicine
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10372273/ https://www.ncbi.nlm.nih.gov/pubmed/36418094 http://dx.doi.org/10.2169/internalmedicine.0645-22 |
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author | Yakushiji, Hiromasa Yamagami, Keiko Hashimura, Chinami Iwasaki, Hiromi Horiuchi, Takahiko |
author_facet | Yakushiji, Hiromasa Yamagami, Keiko Hashimura, Chinami Iwasaki, Hiromi Horiuchi, Takahiko |
author_sort | Yakushiji, Hiromasa |
collection | PubMed |
description | Hereditary angioedema (HAE) is a life-threatening disease associated with recurrent episodes of subcutaneous and mucosal swelling, painful abdominal cramping, and asphyxiation. HAE has long been thought to be caused by genetic defects of C1 inhibitors (C1-INH). Recently, HAE with a normal C1 inhibitor expression (HAEnCI) was reported, and the missense mutation p.Lys330Glu (K330E) in exon 9 of the plasminogen (PLG) gene was shown to be responsible for a subset of HAEnCI. HAE with the K330E mutation in the PLG gene-PLG (HAE-PLG) has been reported in only two Japanese families in Asia. We herein report a third family with HAE-PLG in Japan. |
format | Online Article Text |
id | pubmed-10372273 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | The Japanese Society of Internal Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-103722732023-07-28 A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia Yakushiji, Hiromasa Yamagami, Keiko Hashimura, Chinami Iwasaki, Hiromi Horiuchi, Takahiko Intern Med Case Report Hereditary angioedema (HAE) is a life-threatening disease associated with recurrent episodes of subcutaneous and mucosal swelling, painful abdominal cramping, and asphyxiation. HAE has long been thought to be caused by genetic defects of C1 inhibitors (C1-INH). Recently, HAE with a normal C1 inhibitor expression (HAEnCI) was reported, and the missense mutation p.Lys330Glu (K330E) in exon 9 of the plasminogen (PLG) gene was shown to be responsible for a subset of HAEnCI. HAE with the K330E mutation in the PLG gene-PLG (HAE-PLG) has been reported in only two Japanese families in Asia. We herein report a third family with HAE-PLG in Japan. The Japanese Society of Internal Medicine 2022-11-23 2023-07-01 /pmc/articles/PMC10372273/ /pubmed/36418094 http://dx.doi.org/10.2169/internalmedicine.0645-22 Text en Copyright © 2023 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Yakushiji, Hiromasa Yamagami, Keiko Hashimura, Chinami Iwasaki, Hiromi Horiuchi, Takahiko A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia |
title | A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia |
title_full | A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia |
title_fullStr | A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia |
title_full_unstemmed | A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia |
title_short | A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia |
title_sort | missense mutation of the plasminogen gene in a japanese family with hereditary angioedema with normal c1 inhibitor: third family survey in asia |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10372273/ https://www.ncbi.nlm.nih.gov/pubmed/36418094 http://dx.doi.org/10.2169/internalmedicine.0645-22 |
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