Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS
RA Gbadegesin, G Hall, A Adeyemo… - Journal of the …, 2014 - journals.lww.com
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 …
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 …