Electronic microarray screening of podocin mutations: a single-center study.
BACKGROUND
Because of resistance to immunosuppressants in nephrotic syndrome and reduction of proteinuria relapses following renal transplantation, it seems that new horizons have arisen from mutational screening of the podocin gene. The aim of this study was to assess electronic microarray screening of the podocin mutation.


METHODS
Twelve previously identified podocin mutations were screened by the electronic microarray method in known DNA samples and in patients (aged 5 months-18 years, n = 38) with steroid-resistant primary nephrotic syndrome, isolated proteinuria, end-stage renal disease secondary to idiopathic nephrotic syndrome, and proteinuria relapses following renal transplantation.


RESULTS
DNA samples previously supplied to define the mutation profile for analysis and which were used as controls were completely and correctly detected by this method. None of the 12 mutations was detected in our patients. The duration of analysis for one mutation, including hybridization, was only 30 min for 38 cases.


CONCLUSIONS
Electronic microarray screening for NPHS2 mutations is not only rapid but also accurate. Previous identification of the mutation profile most often encountered in the investigated population is needed, however.
Sakallioglu
Onur
O
Pediatric Nephrology Unit, Gulhane Military Academy of Medicine, 06018, Etlik, Ankara, Turkey. onursakallioglu@hotmail.com
Gok
Faysal
F
Kalman
Suleyman
S
Gul
Davut
D
Barutcu
Hande
H
Cengiz
Nurcan
N
Baskin
Esra
E
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D016030:Kidney Transplantation; D008565:Membrane Proteins / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D016133:Polymerase Chain Reaction; D011507:Proteinuria / Q000235:genetics*; D014421:Turkey
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein