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 C hinese population. We aimed to establish a C hinese genetic database of hereditary angioedema and investigated the potential correlation between genotype and phenotype. Method All the eight exons and intron–exon boundaries of C 1 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 SNP s (3 of them were novel) were identified. Significant difference was found in the level of C 1 inhibitor antigen ( P = 0.01793) between different groups of mutational types. The correlation between different groups of mutational types and the level of C 1 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 C 1 inhibitor function). Conclusion It appears that nonsense, frameshift, and mutations on A rg466 can cause lower level of C 1 inhibitor antigen than missense and in‐frame mutations; however, it does not affect severity of symptoms.