Case Report: Identification of a novel mutation, c.1067T > A, in the SERPING1 gene in a Chinese male with type 1 hereditary angioedema
PMID: 40364801
Gene: SERPING1
HGNC ID: 1228
2 Matching Annotations
- Jun 2025
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Figure 1. Open in a new tab Pedigree of the family with HAE. Circles indicate females, squares indicate males, black-filled symbols indicate affected individuals, the arrow indicates the index patient, and a slash indicates a deceased individual.
Case#: 34 year-old Chinese male.
DiseaseAssertion: HAE-C1INH Type 1.
FamilyInfo: Family history of edema (mother passed away due to laryngeal edema, older sister experienced buttock swelling after prolonged sitting, maternal uncle experienced episodic abdominal pain and unilateral upper-limb swelling). Family testing for serum C4 and C1INH concentration and C1INH functional activity indicate that proband’s maternal uncle and asymptomatic daughter exhibit low values for all three of these biochemical markers, consistent with Type 1 HAE. The proband’s daughter and maternal uncle also tested positive for the variant identified in the proband. Pedigree included in figures.
ParentalTesting: Mother passed away before study. Father tested for C4 and C1INH concentration and C1INH function with all values falling in normal ranges.
CasePresentingHPOs: Edema (HP:0000969), Edema of the dorsum of hands (HP:0007514), Edema of the upper limbs (HP:0010742), Non-pitting edema (HP:6000507), Abdominal pain (HP:0002027)
CasePhenotypeFreeText: Onset at approximate age of 26. Episodes of localized edema of limbs, skin, and buttocks lasting two to three days regardless of treatment. Episodes became more frequent at age 34 and were accompanied by abdominal pain triggered by fatigue. Non-pitting edema of right hand observed on physical examination.. The proband’s C4 level was 0.02 g/L (reference range: 0.1–0.4 g/L), C1INH concentration was 0.07 g/L (reference range: 0.21–0.39 g/L), and C1INH functional activity was 4.3% (reference range: ≥68.0%).
CaseNotHPOs: N/A
CaseNotPhenotypeFreeText: N/A
CasePreviousTesting: N/A
GenotypingMethod: PCR amplification with Sanger sequencing.
Variant: NM_000062:c.1067T>A p.(Val356Glu)
LegacyVariant: N/A
ClinVar: N/A
CAID: CA380702482
gnomAD: N/A
MultipleGeneVariants: N/A
PreviouslyPublished: N/A
AdditionalInfo: N/A
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