2011
DOI: 10.1681/asn.2010050518
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Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis

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Cited by 148 publications
(139 citation statements)
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“…Similarly, mutations in ACTN4, which encodes alphaactinin 4, typically cause late-onset FSGS with slow progression to ESRD [29,81], but mutations in this gene have been reported in children presenting with SRNS and rapid progression to ESRD [8,82]. Mutations in INF2, encoding inverted formin 2, were originally identified in patients with autosomal dominant SRNS, with age of onset ranging from adolescence and throughout adulthood [31,83]. Although INF2 mutations typically result in isolated FSGS, they have also been detected in a subgroup of patients with associated Charcot-MarieTooth neuropathy [84].…”
Section: Late-onset Nsmentioning
confidence: 99%
“…Similarly, mutations in ACTN4, which encodes alphaactinin 4, typically cause late-onset FSGS with slow progression to ESRD [29,81], but mutations in this gene have been reported in children presenting with SRNS and rapid progression to ESRD [8,82]. Mutations in INF2, encoding inverted formin 2, were originally identified in patients with autosomal dominant SRNS, with age of onset ranging from adolescence and throughout adulthood [31,83]. Although INF2 mutations typically result in isolated FSGS, they have also been detected in a subgroup of patients with associated Charcot-MarieTooth neuropathy [84].…”
Section: Late-onset Nsmentioning
confidence: 99%
“…Missense mutation in TRPC-6 [37], which mediates hyperinflux of calcium in podocytes and constitutive activation of the calcineurin-NFAT pathway [38], causes familial FSGS. Alterations of the actin assembly Inverted Formin 2 ( INF2 ) [39], which encodes a member of the formin family of actin-regulating proteins have been described in autosomal dominant FSGS. Moreover, mutation in Arhgap24 [40], a RhoA-activated Rac1 GTPase-activating protein that controls actin polymerization, was associated with FSGS.…”
Section: The Podocyte’s Strength and Weakness: Its Actin Cytoskeletonmentioning
confidence: 99%
“…Hence, at the current stage of knowledge SRNS progressing toward ESRD in the first decade of life almost rules out ADCK4 disease, whereas ADCK4 nephropathy is an important differential diagnosis to consider in cases of adolescent-onset multidrug-resistant proteinuria with FSGS on biopsy. In this group, where genetic causes are found in less than 10% of cases by conventional screening, 11,12 mutations in ADCK4 may be as common as those in NPHS2 and WT1. Of course, the experience derived from the first two disease cohorts comprising patients from 20 families with 15 different mutations is still limited.…”
mentioning
confidence: 99%