Mutation analysis of the SERPING1 gene c.1396C>G in a family with hereditary angioedema

[Objective] To report a family with hereditary angioedema (HAE) and to conduct their genetic mutation analysis. [Methods] Clinical data of the HAE family were collected, and DNA was extracted from the peripheral blood of the family members. The exon coding region of serine protease inhibitor G1(SERPING1) gene of the proband and family members was directly sequenced by Sanger sequencing technology. [Results] The family had a total of 16 people for three consecutive generations, with 9 patients suffering from HAE. All the 9 patients showed repeated erythema, edema and pruritus of the whole-body skin, among which 3 patients died of acute attack. Genetic sequencing was conducted in all 13 individuals. A heterozygous mutation in SERPING1 gene c.1396C>G (p. Arg466Gly) was detected in all the 6 HAE patients, while no gene mutation was found in the 7 healthy person. [Conclusion] The heterozygous mutation of c.1396C>G in the SERPING1 gene might be the cause of hereditary angioedema in this family.