Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses.

ABSTRACT:

Background

The pathogenesis of hereditary angioedema (HAE) type I and type II is linked to defective C1 esterase inhibitor (C1-INH) encoded by the SERPING1 gene. There are substantial variabilities in the clinical presentations of patients with HAE that are not directly correlated to the serum levels of C1-INH. The impact of SERPING1 variants on C1-INH expression, structure, and function is incompletely understood.

Objective

To investigate the influence of SERPING1 variants on the C1-INH expression, structure, and function of 20 patients with HAE from 14 families with no prior genetic diagnosis.

Methods

Patients underwent whole-exome sequencing (WES). If no variants were identified, whole-genome sequencing (WGS) was performed. Except for the frameshift and large delet

SUBMITTER: Ren Z 

PROVIDER: S-EPMC10449387 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature