Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome


Boyer O., Benoit G., Gribouval O., Nevo F., Pawtowski A., Bilge I. , ...More

JOURNAL OF MEDICAL GENETICS, vol.47, no.7, pp.445-452, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 7
  • Publication Date: 2010
  • Doi Number: 10.1136/jmg.2009.076166
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.445-452

Abstract

Background Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLC31) have been recently described in patients with early onset nephrotic syndrome (NS) and diffuse mesangial sclerosis (DMS). In addition, two cases of PLCE1 mutations associated with focal segmental glomerulosclerosis (FSGS) and later NS onset have been reported.