[Pierson syndrome congenital nephritic syndrome with ocular abnormalities: report of an Iranian affected family]

ABSTRACT

Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, eye and variable neurological abnormalities. Recently mutations in LAMB2 gene were identified as the molecular cause of Pierson syndrome. In this article, we report on an Iranian family with three offspring affected with Pierson syndrome, in which two were molecularly investigated and a novel homozygous mutation in LAMB2 was identified. We believe that Pierson syndrome should be considered in all infants with congenital nephrotic syndrome, particularly-but not exclusively-if it is associated with ocular anomalies. We recommend molecular investigation of the LAMB2 gene for all infants with congenital nephrotic syndrome who are negative for mutations in the NPHS1 gene defining the congenital nephrotic syndrome, Finnish type