Open AccessHereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene
Author(s) -
Xu YingYang,
Gu JianQing,
Zhi YuXiang
Publication year - 2020
Publication title -
clinical and translational allergy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.979
H-Index - 37
ISSN - 2045-7022
DOI - 10.1186/s13601-020-00360-9
Subject(s) - hereditary angioedema , proband , exon , medicine , gene , genetics , mutation , c1 inhibitor , compound heterozygosity , stop codon , angioedema , intron , microbiology and biotechnology , biology , immunology
Background Hereditary angioedema with deficient and dysfunctional C1 inhibitor (C1‐INH‐HAE) is a rare genetic disorder. The majority of the cases with this disease are caused by mutations in the C1‐inbitor gene SERPING1 and are classified as type 1 and type 2. We aimed to detect mutations in the SERPING1 gene and evaluate its expression in nine probands with hereditary angioedema from nine different families. Methods Nine probands with hereditary angioedema from nine different families and 53 healthy controls were recruited in this study. All eight exons and intron–exon boundaries in the SERPING1 gene were amplified by PCR and then sequenced. Mutations were identified by alignment with reference sequences. mRNA expression was measured by real‐time PCR. Results All probands were diagnosed with HAE type 1. Nine mutations were found in nine patients: c.44delT, c.289C