A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion.

@article{Chen2011AML,
  title={A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion.},
  author={Ying Maggie Chen and Yamato Kikkawa and Jeffrey H Miner},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2011},
  volume={22 5},
  pages={849-58}
}
Laminin β2 is a component of laminin-521, which is an important constituent of the glomerular basement membrane (GBM). Null mutations in laminin β2 (LAMB2) cause Pierson syndrome, a severe congenital nephrotic syndrome with ocular and neurologic defects. In contrast, patients with LAMB2 missense mutations, such as R246Q, can have less severe extrarenal defects but still exhibit congenital nephrotic syndrome. To investigate how such missense mutations in LAMB2 cause proteinuria, we generated… CONTINUE READING