ArticleKidney international reports2026
Functional Characterization of a Novel Intronic Complement Factor I Variant in Factor I Deficiency and Atypical Hemolytic Uremic Syndrome.
Article in Kidney international reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: The role of noncanonical intronic splice site variants in atypical hemolytic uremic syndrome (aHUS) cases without identified pathogenic variants has long been postulated. We previously identified a novel intronic variant (c.328+42G>A) in the complement factor I ( Methods: After screening our genetic registry for patients with potential FI-driven pathologies, the identified c.328+42G>A carriers and their family members underwent comprehensive complement profiling and genetic analysis. To investigate mRNA isoforms with real-time polymerase chain reaction (PCR), we cultured monocyte-derived dendritic cells (mo-DCs) from carriers and used geneticin to assess the role of nonsense-mediated decay (NMD). Results: We identified 3 additional carriers, demonstrating marked enrichment within our aHUS cohort. All carriers exhibited consistently reduced FI levels. Based on the mo-DC experiments, the variant creates a strong noncanonical splice site, leading to the predominant production of a splice variant with a 43-bp extension of exon 2, which generates a premature stop codon. Geneticin treatment increased the aberrant transcript level 4- to 7-fold, supporting its degradation via NMD. Conclusion: The
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