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Article

Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I.

The Journal of dermatology - 1 Aug 2021

Yasuno Shuichiro, Ansai Osamu, Hayashi Ryota, Nakamura Sawako, Shimomura Yutaka

Abstract excerpt

Hereditary angioedema (HAE) is a rare condition characterized by episodic local edema involving various organs, which can be life-threatening in some cases. Among the three subtypes of the disease, HAE types I and II are known to be caused by heterozygous mutations in the SERPING1 gene encoding C1 inhibitor (C1INH). Although a number of mutations in the SERPING1 gene have been identified to date, the mechanisms...

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Identifiers

PMID: 33914953
DOI: 10.1111/1346-8138.15930

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Evidence for a dominant-negative effect of a missense mutation in the SERPING1 gene responsible for hereditary angioedema type I.PMID 33914953Read ↗

Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedemaSemantic proximity Read ↗

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Case Report: Identification of a novel mutation, c.1067T > A, in the SERPING1 gene in a Chinese male with type 1 hereditary angioedemaSemantic proximity Read ↗

A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema.Semantic proximity Read ↗

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