Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome


Heeringa S. F. , Vlangos C. N. , Chernin G., Hinkes B., Gbadegesin R., Liu J., ...More

NEPHROLOGY DIALYSIS TRANSPLANTATION, vol.23, no.11, pp.3527-3533, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 11
  • Publication Date: 2008
  • Doi Number: 10.1093/ndt/gfn271
  • Title of Journal : NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Page Numbers: pp.3527-3533

Abstract

Background. Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of life. CNS of the Finnish-type (CNF) features a rather specific renal histology and is caused by recessive mutations in the NPHS1 gene encoding nephrin, a major structural protein of the glomerular slit-diaphragm. So far, more than 80 different mutations of NPHS1 causing CNF have been published.