High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature.

ABSTRACT:

Introduction

Atypical Hemolytic Uremic Syndrome (aHUS) is the prototype of renal diseases secondary to dysregulation of the alternative complement pathway. Our previous studies demonstrated that factor I deficiency appears to be common in Tunisian aHUS patients with the recurrence of a rare variant c.1071T>G (p.Ile357Met) localized within exon 10 of the Complement Factor I (CFI) gene. Data in the literature have demonstrated that this variant has a pathogenic effect affecting factor I synthesis and function. The recurrence of this variant in the Tunisian cohort led us to suggest that it could be characteristic of the Tunisian population.

Methods

In this context, we conducted the current study which included 8 adults and three children with suspected aHUS and decreased

SUBMITTER: Tajouri A 

PROVIDER: S-EPMC12390990 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature