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. METHOD: 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). CONCLUSION: 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.
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. METHOD: 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). CONCLUSION: 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: Pavla Hujová; Přemysl Souček; Lucie Grodecká; Hana Grombiříková; Barbora Ravčuková; Pavel Kuklínek; Roman Hakl; Jiří Litzman; Tomáš Freiberger Journal: J Clin Immunol Date: 2020-01-25 Impact factor: 8.317
Authors: Irene Johnsrud; Mari Ann Kulseth; Olaug Kristin Rødningen; Linn Landrø; Per Helsing; Erik Waage Nielsen; Ketil Heimdal Journal: PLoS One Date: 2015-07-08 Impact factor: 3.240
Authors: Alejandro Mendoza-Alvarez; Adrián Muñoz-Barrera; Luis Alberto Rubio-Rodríguez; Itahisa Marcelino-Rodriguez; Almudena Corrales; Antonio Iñigo-Campos; Ariel Callero; Eva Perez-Rodriguez; Jose Carlos Garcia-Robaina; Rafaela González-Montelongo; Jose Miguel Lorenzo-Salazar; Carlos Flores Journal: J Med Internet Res Date: 2020-10-09 Impact factor: 5.428