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Updated: Jan 19, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
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SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.

Denise Ponard1,2, Christine Gaboriaud3, Delphine Charignon4,5

  • 1Centre de Référence des Angioedèmes (CREAK), Filière MaRIH, CHU Grenoble, Grenoble, France.

Human Mutation
|September 14, 2019
PubMed
Summary

C1 inhibitor deficiency causes hereditary angioedema due to SERPING1 gene variants. This study details 748 variants, aiding genotype-phenotype correlations and understanding serpinopathy.

Keywords:
C1 inhibitorSERPING1hereditary angioedemamutational spectrumprotease controlserpinserpinopathystructure-function relationship

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Area of Science:

  • Genetics
  • Biochemistry
  • Immunology

Background:

  • C1 inhibitor (C1Inh) deficiency causes hereditary angioedema (C1-INH-HAE).
  • C1Inh regulates the kallikrein-kinin system, controlling bradykinin generation.
  • SERPING1 gene variants are the primary cause of C1Inh deficiency.

Purpose of the Study:

  • To comprehensively document SERPING1 variants and their associated C1-INH-HAE phenotypes.
  • To identify functionally important residues within C1Inh related to serpin activity.
  • To advance the understanding of C1Inh deficiency as a serpinopathy.

Main Methods:

  • Systematic documentation of published and novel SERPING1 variants.
  • Analysis of variant types including heterozygous, homozygous, and compound heterozygous.
  • Phenotypic analysis of C1Inh function and correlation with identified variants.

Main Results:

  • A total of 748 SERPING1 variants are documented, including 120 novel ones.
  • Variants were identified as heterozygous, homozygous, and compound heterozygous, with some cases of de novo and gonadal mosaicism.
  • Functional analysis revealed dysfunctional serpin variants and identified an intermediate C1-INH-HAE phenotype in 74 probands.

Conclusions:

  • The comprehensive SERPING1 variant spectrum facilitates genotype-phenotype correlations in C1-INH-HAE.
  • Key residues critical for serpin function were highlighted, advancing the understanding of C1Inh's 'mousetrap' mechanism.
  • This work refines the classification of C1Inh deficiency as a serpinopathy, improving diagnostic and therapeutic strategies.