title: Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema.
abstract: BACKGROUND
  Hereditary angioedema is a rare autosomal dominant disease, and its correlation between genotype and phenotype seems not to exist. So far, there are very few studies on Chinese population. We aimed to establish a Chinese genetic database of hereditary angioedema and investigated the potential correlation between genotype and phenotype.
  
  
  METHODS
  All the eight exons and intron-exon boundaries of C1 inhibitor gene were detected in 48 unrelated families with HAE. The correlations between genotype and clinical parameters were evaluated by R statistical software.
  
  
  RESULTS
  Thirty-five different mutations (25 of them were novel) and 7 SNPs (3 of them were novel) were identified. Significant difference was found in the level of C1 inhibitor antigen (P = 0.01793) between different groups of mutational types. The correlation between different groups of mutational types and the level of C1 inhibitor antigen (0.5047, P = 0.00027) was significant. The different groups of mutational types showed neither difference nor correlations of clinical parameters (severity score and the level of C1 inhibitor function).
  
  
  CONCLUSIONS
  It appears that nonsense, frameshift, and mutations on Arg466 can cause lower level of C1 inhibitor antigen than missense and in-frame mutations; however, it does not affect severity of symptoms.
authors.affiliation: Department of Allergy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
authors.forename: Y-Y
authors.initials: YY
authors.lastname: Xu
authors.forename: Y-X
authors.initials: YX
authors.lastname: Zhi
authors.forename: J
authors.initials: J
authors.lastname: Yin
authors.forename: L-L
authors.initials: LL
authors.lastname: Wang
authors.forename: L-P
authors.initials: LP
authors.lastname: Wen
authors.forename: J-Q
authors.initials: JQ
authors.lastname: Gu
authors.forename: K
authors.initials: K
authors.lastname: Guan
authors.forename: T
authors.initials: T
authors.lastname: Craig
authors.forename: H-Y
authors.initials: HY
authors.lastname: Zhang
mesh_terms: D054179:Angioedemas, Hereditary / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: D050718:Complement C1 Inhibitor Protein