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Article

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 - 2 Jun 2026

Guo Weili, Yang Xu, Du Wenjin, Lin Xianghua, Zhang Wenchao, Zhang Qiuxing, Meng Zhaoji, Wang Siqin, Liao Shixiu, Guo Zhenglong

Abstract excerpt

BACKGROUND: Hereditary angioedema (HAE) is a rare autosomal dominant disorder predominantly caused by mutations in the SERPING1 gene, which encodes C1 esterase inhibitor (C1-INH). HAE is characterized by recurrent self-limiting episodes of subcutaneous and submucosal edema that can be life-threatening when the upper airway is involved. Diagnostic delays and misdiagnoses are common due to the clinical overlap with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42231433
DOI: 10.1186/s13023-026-04421-3
PMCID: PMC13455203

Genes

SERPING1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis.PMID 42231433Read ↗

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