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


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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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 11
  • Publication Date: 2008
  • Doi Number: 10.1093/ndt/gfn271
  • Journal Name: NEPHROLOGY DIALYSIS TRANSPLANTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.3527-3533
  • Keywords: CNS, novel mutations, NPHS1, SLIT DIAPHRAGM, NEPHRIN, GENE, CHILDHOOD, PROTEIN
  • Hacettepe University Affiliated: Yes

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.