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., ...Daha Fazla

PEDIATRICS, cilt.119, sa.4, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 119 Sayı: 4
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1542/peds.2006-2164
  • Dergi Adı: PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: nephrotic syndrome, LAMB2, NPHS1, NPHS2, WT1, FOCAL SEGMENTAL GLOMERULOSCLEROSIS, WILMS-TUMOR, MISSENSE MUTATIONS, GLOMERULAR PROTEIN, PLASMA-MEMBRANE, NEPHRIN GENE, PODOCIN, SPECTRUM, CHILDREN, ACTN4
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.