Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema.

Area of Science:

• Genetics
• Immunology

Background:

• Hereditary angioedema (HAE) is a rare genetic disorder.
• It is characterized by recurrent swelling episodes.
• Over 800 SERPING1 gene variants are known, showing high heterogeneity.

Purpose of the Study:

• To identify and characterize novel SERPING1 gene variants in a Portuguese family with HAE.
• To contribute to the understanding of HAE type 1 genetic basis.

Main Methods:

• Genetic testing following international guidelines.
• Utilizing the Hereditary Angioedema Database Annotation tool for variant prioritization.

Main Results:

• Identified a novel heterozygous insertion in SERPING1 (c.336_337insC) in two affected family members.
• The variant leads to a frameshift and premature STOP codon in the C1-INH protein (p.Ser113LeufsTer20).

Conclusions:

• Reported a novel pathogenic SERPING1 variant in a family with HAE type 1.
• This finding aids in identifying similar cases and expands knowledge of HAE genetics.