ArticleHereditas2022
Mutation update of SERPING1 related to hereditary angioedema in the Chinese population.
Article in Hereditas, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 14 citations in OpenAlex.
- Characterization of missense variants in the signal peptide of C1 esterase inhibitor.The Journal of allergy and clinical immunology · 2026Article
- A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis.Orphanet journal of rare diseases · 2026Article
- The 2025 WAO Guidelines for the classification, diagnosis, and treatment of hereditary angioedema, with consideration of worldwide disparities.The World Allergy Organization journal · 2026Article
- Advances in hereditary angioedema in the modern treatment era in China: a focus on diagnosis, treatment, and prognosis.Orphanet journal of rare diseases · 2026Review
- Case Report: Hereditary angioedema masquerading as gastroenteritis.Frontiers in immunology · 2026Article
- Diagnostic delay,Frontiers in allergy · 2026Article
- Epidemiological and clinical characteristics of hereditary angioedema in the Baltic states.Frontiers in immunology · 2026Article
- Hereditary Angioedema (HAE) in China: Advancing Awareness, Access, Advocacy and Alliances From the Greater Bay Area to the Global HAE Community.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2025Review
- Identification of a novel mutation in the SERPING1 gene in a 17-year-old Chinese girl with type I hereditary angioedema.JAAD case reports · 2025Article
- Case Report: Identification of a novel mutation, c.1067T > A, in theFrontiers in allergy · 2025Article
- Implementation of genetic diagnosis and personalized management of hereditary angioedema in a Chinese regional center: a community case study of three families.Frontiers in allergy · 2025Article
- Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants inThe World Allergy Organization journal · 2024Article
- Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.PloS one · 2024Article
- Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.Journal of clinical immunology · 2023Article
- Altered Urinary Metabolomics in Hereditary Angioedema.Metabolites · 2022Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundHereditary angioedema (HAE) is a rare disease characterized by recurrent attacks of severe swellings of the skin and submucosa. More than 900 variants of the SERPING1 gene associated with HAE have been identified. However, only approximately 50 variants have been identified in the Chinese population. This study aimed to update the mutational spectrum in Chinese HAE patients and provide evidence for the accurate diagnosis of HAE.
methodsA total of 97 unrelated HAE patients were enrolled in the study. Sanger sequencing and multiple ligation-dependent probe amplification analysis were used to identify the variants in the SERPING1 gene. The variants were reviewed in a number of databases, including the Human Gene Mutation Database (HGMD) ( http://www.hgmd.cf.ac.uk/ ) and the Leiden Open Variation Database (LOVD, https://databases.lovd.nl/shared/variants/SERPING1 ). The American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) criteria was used to determine the pathogenicity of the variants.
resultsOf the 97 patients, 76 different variants were identified in 90 of them and no disease-causing variants were identified in the remaining 7 patients. Among the 76 variants, 35 variants were novel and submitted to ClinVar. Missense and in-frame variants were the most common variants (36.8%), followed by frameshift (28.9%), nonsense (14.5%), splice site (13.2%) variants, and gross deletions/duplications (6.6%).
conclusionsOur findings broaden the mutational spectrum of SERPING1 and provide evidence for accurate diagnosis and predictive genetic counseling.
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