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FB2026_01
,
released March 12, 2026
This report describes focal segmental glomerulosclerosis 5 (FSGS5), which is a subtype of focal segmental glomerulosclerosis; FSGS5 exhibits autosomal dominant inheritance. The human gene implicated in this disease is INF2, a member of the formin family; the INF2 protein plays a role in polymerization and depolymerization of actin filaments and in regulation of cytoskeletal dynamics. INF2 is also implicated in a sub-type of Charcot-Marie-Tooth disease (see FBhh0001285).
The most closely related orthologous gene in Drosophila is form3, which is also orthologous to the human gene FHDC1. Dmel\form3 has not been used for this disease model.
Multiple UAS constructs of the human Hsap\INF2 gene have been introduced into flies, including wild-type and variants implicated in disease. Phenotypes were assessed in the garland nephrocytes of third instar larvae; fly nephrocytes are functionally homologous to the podocytes of vertebrates. The distribution and organization of cytosolic and cortical actin in the nephrocytes was assessed, as well as the impact upon the structure of the slit diaphragms.
Phenotypes of variants associated with this form of focal segmental glomerulosclerosis (FSGS5) and Charcot-Marie-Tooth disease (CMTDIE) have been compared. Variant(s) implicated in human disease tested (as transgenic human gene, INF2): the S186P, L57P, and L132R variant forms of the human gene have been introduced into flies.
[updated Nov. 2020 by FlyBase; FBrf0222196]
Focal segmental glomerulosclerosis is one of many diseases and conditions can affect kidney function by attacking and damaging the glomeruli. "Glomerulosclerosis" refers to a hardening and scarring of the glomeruli. The scarring of FSGS takes place in small sections of each glomerulus, and only a limited number of glomeruli are damaged initially (https://www.kidney.org/atoz/content/focal).
A definitive diagnosis of FSGS is established only by histopathology findings (http://emedicine.medscape.com/article/245915-overview).
Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004, pubmed:14750104; Mathis et al., 1998, pubmed:9461087). [from MIM:603278; 2017.09.14]
Focal segmental glomerulosclerosis is a common cause of end-stage renal disease (Meyrier, 2005; pubmed:16932363). [from MIM:607832; 2017.09.14]
In the literature, the clinical term 'nephrotic syndrome' (NPHS) and the pathologic term 'focal segmental glomerulosclerosis' (FSGS) have often been used to refer to the same disease entity. In OMIM, these disorders are classified as NPHS or FSGS according to how they were first designated in the literature. [from MIM:607832; 2017.09.14]
[FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5](https://omim.org/entry/613237)
[INVERTED FORMIN 2; INF2](https://omim.org/entry/610982)
Focal segmental glomerulosclerosis-5 (FSGS5), is caused by heterozygous mutation in the INF2 gene. [from MIM:613237; 2020.11.07]
INF2 encodes a member of the formin family; it plays a role in polymerization and depolymerization of actin filaments. [Gene Cards, INF2; 2020.11.08]
Formins play instrumental roles in controlling rearrangements of the actin cytoskeleton and have been shown to directly regulate microtubule dynamics (Breitsprecher and Goode, 2013; pubmed:23516326).
Many to one: 2 humans gene to 1 Drosophila gene; multiple similar genes in both species. The two human genes are INF2 and FHDC1.