• Internal medicine · Jul 2023

    A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia.

    • Hiromasa Yakushiji, Keiko Yamagami, Chinami Hashimura, Hiromi Iwasaki, and Takahiko Horiuchi.
    • Yakushiji Jikei Hospital, Japan.
    • Intern. Med. 2023 Jul 1; 62 (13): 200520082005-2008.

    AbstractHereditary 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.

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