A Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type I Hereditary Angioedema

DOI Web Site Web Site PubMed 2 Citations 38 References
  • SEKIJIMA Yoshiki
    Third Department of Medicine, Shinshu University School of Medicine
  • HASHIMOTO Takao
    Third Department of Medicine, Shinshu University School of Medicine
  • KAWACHI Yasuhiro
    Department of Dermatology, Institute of Clinical Medicine, University of Tsukuba
  • KOSHIHARA Hiroshi
    Third Department of Medicine, Shinshu University School of Medicine
  • OTSUKA Fujio
    Department of Dermatology, Institute of Clinical Medicine, University of Tsukuba
  • IKEDA Shu-ichi
    Third Department of Medicine, Shinshu University School of Medicine

Bibliographic Information

Other Title
  • A Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type 1 Hereditary Angioedema
  • Novel RNA Splice Site Mutation in the C1 Inhibitor Gene of a Patient with Type 1 Hereditary Angioedema

Search this article

Abstract

We describe a patient with type I hereditary angioedema presenting recurrent episodes of skin swelling and abdominal pain. Laboratory examination showed reduced levels of CH50 and C4 with a normal C3 level. The C1 inhibitor was decreased to 7.0 mg/dl (normal, 10-25 mg/dl) with a remarkably reduced activity (<25%; normal, 80-125%). DNA analysis of the C1 inhibitor gene revealed a novel point mutation at the 3' acceptor mRNA splice site of the intron 5 (G→A at nucleotide 8722). This mutation may abolish the correct splicing of the intron 5 and create unstable mRNA.

Journal

  • Internal Medicine

    Internal Medicine 43 (3), 253-255, 2004

    The Japanese Society of Internal Medicine

Citations (2)*help

See more

References(38)*help

See more

Keywords

Details 詳細情報について

Report a problem

Back to top