Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2)

BG Hinkes, B Mucha, CN Vlangos, R Gbadegesin… - …, 2007 - publications.aap.org
OBJECTIVES. Mutations in each of the NPHS1, NPHS2, WT1, and LAMB2 genes have been
implicated in nephrotic syndrome, manifesting in the first year of life. The relative frequency
of causative mutations in these genes in children with nephrotic syndrome manifesting in the
first year of life is unknown. Therefore, we analyzed all 4 of the genes jointly in a large
European cohort of 89 children from 80 families with nephrotic syndrome manifesting in the
first year of life and characterized genotype/phenotype correlations. METHODS. We …