Description and phenotype of a novel C5 gene mutation and a novel combination: family report and literature review.

ABSTRACT:

Background

Patients with C5 mutations are more susceptibility to Gram-negative bacterial infections, particularly Neisseria species.

Objective

To describe the phenotype and clinical features of a family carrying two C5 gene variants, including one novel mutation, and to assess their functional and genetic significance.

Methods

We analyzed the clinical and genetic characteristics of a family with two compounds heterozygous C5 variants. Clinical features were assessed across affected and unaffected family members, and results were correlated with genetic and functional assays.

Results

Genetic testing revealed compound heterozygous variants in the C5 gene: c.713T>C (p.Ile238Thr) and c.1949G>T (p.Gly650Val). The p.Ile238Thr variant, located in exon 7, result

SUBMITTER: Lizama-Munoz A 

PROVIDER: S-EPMC12277378 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature