Congenital nephrotic syndrome type 05 (Pierson syndrome)
Microcoria-congenital nephrotic syndrome is an autosomal recessive disorder caused by mutations of laminin beta-2, an essential component of mature glomerular laminin located in the glomerular basement membrane. The clinical course is characterized by severe proteinuria and early death.
Zenker M et al. (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.[^]
Farquhar MG et al. (2006) The glomerular basement membrane: not gone, just forgotten.[^]
Hasselbacher K et al. (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.[^]
Glastre C et al. (1990) Familial infantile nephrotic syndrome with ocular abnormalities.[^]