Clinical and Pathological Heterogeneity in FSGS due to INF2 Mutations
Martha Catalina Morales-Álvarez, Andrea U. Knob, Helmut G. Rennke, Martin R. Pollak, Bradley M. Denker
Abstract
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 domain and an N terminal diaphanous inhibitory domain necessary for interaction with regulatory binding proteins to modulate actin assembly.
Topics & Concepts
Focal segmental glomerulosclerosisForminsMissense mutationMedicinePodocyteMutationPathologicalGeneticsKidneyGeneGlomerulonephritisBiologyPathologyInternal medicineActin cytoskeletonProteinuriaCytoskeletonCellRenal Diseases and GlomerulopathiesChronic Kidney Disease and DiabetesRenal and related cancers