SERPING1

SERPING1 identifies and analyzes genetic variants in the SERPING1 gene associated with hereditary angioedema (HAE) in the Chinese population.

Key Features:

• Variant Identification: Sanger sequencing and multiple ligation-dependent probe amplification (MLPA) are used to detect point mutations and larger genomic rearrangements in SERPING1.
• Database Integration: Identified variants are cross-referenced with the Human Gene Mutation Database (HGMD) and the Leiden Open Variation Database (LOVD).
• Pathogenicity Assessment: The American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) criteria are applied to evaluate variant clinical significance.

Scientific Applications:

• Mutational Spectrum Expansion: Analysis of 97 unrelated Chinese HAE patients identified 76 distinct SERPING1 variants across 90 patients, including 35 novel variants submitted to ClinVar.
• Diagnostic Precision: Comprehensive variant detection supports genetic confirmation of HAE by distinguishing disease-causing mutations from benign polymorphisms.
• Predictive Genetic Counseling: The mutational data inform inheritance patterns and risk assessment for family members.

Methodology:

Sanger sequencing and multiple ligation-dependent probe amplification (MLPA) were performed on samples from 97 unrelated HAE patients; detected variants were cross-referenced with HGMD and LOVD and classified using ACMG-AMP criteria.