A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

摘要

Background: Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin beta 2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype-phenotype correlations have been reported, often with great clinical variability. We hereby report a novel homozygous nonsense mutation in the LAMB2 gene, associated with a severe phenotype presentation.