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Clinical and Pathological Heterogeneity in FSGS due to INF2 Mutations

9 Sept 2022

Abstract excerpt

Mutations in inverted-formin-2 (INF2) are a frequent cause of inherited focal and segmental glomerulosclerosis (FSGS), accounting for approximately 9% to 17% of familial cases.1-3 More than 50 mutations in the INF2 gene have been described with R218Q being the most common. This missense mutation leads to progressive kidney disease mediated by podocyte injury. INF2 contains a C terminal diaphanous autoregulatory...

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PMID: 36506246
DOI: 10.1016/j.ekir.2022.08.033

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