title: Hereditary angioedema in Japan:  genetic analysis of 13 unrelated cases.
abstract: BACKGROUND
  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.
authors.affiliation: Yamamoto Clinic, Fukuoka, Japan.
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Takahiko
authors.initials: T
authors.lastname: Horiuchi
authors.forename: Hisaaki
authors.initials: H
authors.lastname: Miyahara
authors.forename: Shigeru
authors.initials: S
authors.lastname: Yoshizawa
authors.forename: Junichi
authors.initials: J
authors.lastname: Maehara
authors.forename: Eisuke
authors.initials: E
authors.lastname: Shono
authors.forename: Kazuto
authors.initials: K
authors.lastname: Takamura
authors.forename: Haruhisa
authors.initials: H
authors.lastname: Machida
authors.forename: Kaoru
authors.initials: K
authors.lastname: Tsujioka
authors.forename: Takehiko
authors.initials: T
authors.lastname: Kaneko
authors.forename: Naoki
authors.initials: N
authors.lastname: Uemura
authors.forename: Kenichi
authors.initials: K
authors.lastname: Suzawa
authors.forename: Norihiko
authors.initials: N
authors.lastname: Inagaki
authors.forename: Noriko
authors.initials: N
authors.lastname: Umegaki
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Kasamatsu
authors.forename: Akihito
authors.initials: A
authors.lastname: Hara
authors.forename: Yojiro
authors.initials: Y
authors.lastname: Arinobu
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Inoue
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Niiro
authors.forename: Yoichiro
authors.initials: Y
authors.lastname: Kashiwagai
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Harashima
authors.forename: Tomoko
authors.initials: T
authors.lastname: Tahira
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: Koichi
authors.initials: K
authors.lastname: Akashi
mesh_terms: D000293:Adolescent; D000328:Adult; D054179:Angioedemas, Hereditary / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human