title: NPHS2 mutations.
abstract: OBJECTIVE
  To uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS).
  
  
  METHODS
  Sixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing.
  
  
  RESULTS
  NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (R238fs and P45fs) and two missense mutations (I136L and F216Y). There were no phenotypic or histological characteristics of patients bearing NPHS2 mutations, apart from the earlier onset of the disease, compared to those who were not bearing mutations.
  
  
  CONCLUSIONS
  NPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients.
authors.affiliation: Department of Pediatric Nephrology, Mansoura University Children's Hospital, Mansoura, Egypt. ashbakr@mans.edu.eg
authors.forename: Ashraf
authors.initials: A
authors.lastname: Bakr
authors.forename: Soheir
authors.initials: S
authors.lastname: Yehia
authors.forename: Doaa
authors.initials: D
authors.lastname: El-Ghannam
authors.forename: Ayman
authors.initials: A
authors.lastname: Hammad
authors.forename: Mohamed
authors.initials: M
authors.lastname: Ragab
authors.forename: Amr
authors.initials: A
authors.lastname: Sarhan
authors.forename: Fatma
authors.initials: F
authors.lastname: Al-Husseni
authors.forename: Zakaria
authors.initials: Z
authors.lastname: Al-Morsy
mesh_terms: D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004534:Egypt / Q000453:epidemiology; D016368:Frameshift Mutation; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000097:blood / Q000235:genetics*; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D015995:Prevalence; D011379:Prognosis
chemical_list: D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein