Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)

Hinkes B. G., Mucha B., Vlangos C. N., Gbadegesin R., Liu J., Hasselbachera K., ...More

PEDIATRICS, vol.119, no.4, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 119 Issue: 4
  • Publication Date: 2007
  • Doi Number: 10.1542/peds.2006-2164
  • Journal Name: PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: nephrotic syndrome, LAMB2, NPHS1, NPHS2, WT1, FOCAL SEGMENTAL GLOMERULOSCLEROSIS, WILMS-TUMOR, MISSENSE MUTATIONS, GLOMERULAR PROTEIN, PLASMA-MEMBRANE, NEPHRIN GENE, PODOCIN, SPECTRUM, CHILDREN, ACTN4
  • Hacettepe University Affiliated: Yes

Abstract

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.