NPHS2 mutations.
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.
Bakr
Ashraf
A
Department of Pediatric Nephrology, Mansoura University Children's Hospital, Mansoura, Egypt. ashbakr@mans.edu.eg
Yehia
Soheir
S
El-Ghannam
Doaa
D
Hammad
Ayman
A
Ragab
Mohamed
M
Sarhan
Amr
A
Al-Husseni
Fatma
F
Al-Morsy
Zakaria
Z
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
D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein