anillin fsgs

Recent advances in genomics have uncovered the molecular mechanisms involved in the broad spectrum of variation associated with steroid-resistant nephrotic syndrome. Over 50 monogenic causes of steroid-resistant nephrotic syndrome have been discovered; however, these genes are implicated in only a small proportion of cases. Using a combination of whole-exome sequencing and genome-wide linkage studies, a missense mutation in anillin (ANLN) has been identified as a cause of focal segmental glomerulosclerosis, a pattern of glomerular injury associated with steroid-resistant nephrotic syndrome...

BACKGROUND: We previously reported that mutations in the anillin ( ANLN ) gene cause familial forms of FSGS. ANLN is an F-actin binding protein that modulates podocyte cell motility and interacts with the phosphoinositide 3-kinase (PI3K) pathway through the slit diaphragm adaptor protein CD2-associated protein (CD2AP). However, it is unclear how the ANLN mutations cause the FSGS phenotype. We hypothesized that the R431C mutation exerts its pathogenic effects by uncoupling ANLN from CD2AP...

FSGS is characterized by segmental scarring of the glomerulus and is a leading cause of kidney failure. Identification of genes causing FSGS has improved our understanding of disease mechanisms and points to defects in the glomerular epithelial cell, the podocyte, as a major factor in disease pathogenesis. Using a combination of genome-wide linkage studies and whole-exome sequencing in a kindred with familial FSGS, we identified a missense mutation R431C in anillin (ANLN), an F-actin binding cell cycle gene, as a cause of FSGS...