Hereditary angioedema in Japan: Genetic analysis of 13 unrelated cases

Tetsuro Yamamoto, Takahiko Horiuchi, Hisaaki Miyahara, Shigeru Yoshizawa, Junichi Maehara, Eisuke Shono, Kazuto Takamura, Haruhisa MacHida, Kaoru Tsujioka, Takehiko Kaneko, Naoki Uemura, Kenichi Suzawa, Norihiko Inagaki, Noriko Umegaki, Yoshihiro Kasamatsu, Akihito Hara, Yojiro Arinobu, Yasushi Inoue, Hiroaki Niiro, Yoichiro KashiwagaiShin Ichi Harashima, Tomoko Tahira, Hiroshi Tsukamoto, Koichi Akashi

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Introduction: The molecular bases and clinical features of hereditary angioedema (HAE) have not been systematically documented in Japan or in other Asian countries. Thus, the authors researched the genetic and clinical characteristics of Japanese patients with HAE. Methods: The authors analyzed the CIINH gene for mutations in 13 unrelated Japanese patients with HAE by means of the polymerase chain reaction and nucleotide sequencing. In addition, the authors searched the literature from January 1969 to October 2010 on Japanese patients with HAE. Results: Seven of the mutations found were novel, including 4 missense mutations (8728T>G, 8831C>A, 16661T>G and 16885C>A), 2 frameshift mutations (2281-2350del70, 14158delT) and 1 large deletion (at least 1 kb-length deletion including exon 4), whereas 6 mutations had previously been reported in European populations. Conclusions: The genetic and clinical characteristics in Japanese patients with HAE may be similar to those in Western patients although our sample size is small and the authors identified 7 novel mutations.

Original languageEnglish
Pages (from-to)210-214
Number of pages5
JournalAmerican Journal of the Medical Sciences
Volume343
Issue number3
DOIs
Publication statusPublished - 2012 Mar
Externally publishedYes

Fingerprint

Hereditary Angioedemas
Japan
Mutation
Frameshift Mutation
Missense Mutation
Sample Size
Exons
Nucleotides
Polymerase Chain Reaction
Population
Genes

Keywords

  • C1 inhibitor
  • Hereditary angioneuroedema
  • Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Yamamoto, T., Horiuchi, T., Miyahara, H., Yoshizawa, S., Maehara, J., Shono, E., ... Akashi, K. (2012). Hereditary angioedema in Japan: Genetic analysis of 13 unrelated cases. American Journal of the Medical Sciences, 343(3), 210-214. https://doi.org/10.1097/MAJ.0b013e31822bdb65

Hereditary angioedema in Japan : Genetic analysis of 13 unrelated cases. / Yamamoto, Tetsuro; Horiuchi, Takahiko; Miyahara, Hisaaki; Yoshizawa, Shigeru; Maehara, Junichi; Shono, Eisuke; Takamura, Kazuto; MacHida, Haruhisa; Tsujioka, Kaoru; Kaneko, Takehiko; Uemura, Naoki; Suzawa, Kenichi; Inagaki, Norihiko; Umegaki, Noriko; Kasamatsu, Yoshihiro; Hara, Akihito; Arinobu, Yojiro; Inoue, Yasushi; Niiro, Hiroaki; Kashiwagai, Yoichiro; Harashima, Shin Ichi; Tahira, Tomoko; Tsukamoto, Hiroshi; Akashi, Koichi.

In: American Journal of the Medical Sciences, Vol. 343, No. 3, 03.2012, p. 210-214.

Research output: Contribution to journalArticle

Yamamoto, T, Horiuchi, T, Miyahara, H, Yoshizawa, S, Maehara, J, Shono, E, Takamura, K, MacHida, H, Tsujioka, K, Kaneko, T, Uemura, N, Suzawa, K, Inagaki, N, Umegaki, N, Kasamatsu, Y, Hara, A, Arinobu, Y, Inoue, Y, Niiro, H, Kashiwagai, Y, Harashima, SI, Tahira, T, Tsukamoto, H & Akashi, K 2012, 'Hereditary angioedema in Japan: Genetic analysis of 13 unrelated cases', American Journal of the Medical Sciences, vol. 343, no. 3, pp. 210-214. https://doi.org/10.1097/MAJ.0b013e31822bdb65
Yamamoto T, Horiuchi T, Miyahara H, Yoshizawa S, Maehara J, Shono E et al. Hereditary angioedema in Japan: Genetic analysis of 13 unrelated cases. American Journal of the Medical Sciences. 2012 Mar;343(3):210-214. https://doi.org/10.1097/MAJ.0b013e31822bdb65
Yamamoto, Tetsuro ; Horiuchi, Takahiko ; Miyahara, Hisaaki ; Yoshizawa, Shigeru ; Maehara, Junichi ; Shono, Eisuke ; Takamura, Kazuto ; MacHida, Haruhisa ; Tsujioka, Kaoru ; Kaneko, Takehiko ; Uemura, Naoki ; Suzawa, Kenichi ; Inagaki, Norihiko ; Umegaki, Noriko ; Kasamatsu, Yoshihiro ; Hara, Akihito ; Arinobu, Yojiro ; Inoue, Yasushi ; Niiro, Hiroaki ; Kashiwagai, Yoichiro ; Harashima, Shin Ichi ; Tahira, Tomoko ; Tsukamoto, Hiroshi ; Akashi, Koichi. / Hereditary angioedema in Japan : Genetic analysis of 13 unrelated cases. In: American Journal of the Medical Sciences. 2012 ; Vol. 343, No. 3. pp. 210-214.
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