Screening for podocin gene (NPHS2) mutations in children with sporadic steroid-resistant nephrotic syndrome
Abstract
This article presents the results of identification of mutations in the podocin gene ( NPHS2 ) in 50 Russian children with sporadic steroid-resistant nephrotic syndrome (SRNS) and in the control group of 50 healthy children. One novel heterozygous nonsense mutation of c.259 G>T ( p.87Glu>X ) was identified in the exon 1 of the NPHS2 gene in a SRNS child with FSGS. We also found one kind of single nucleotide polymorphism c.872+7A>G in the intron 7 of the NPHS2 gene in 3/50 SRNS patients and in 5/50 children in control (6% and 10%, respectively, р > 0.05). Our results indicate that mutation-detected rate in the NPHS2 gene in Russian children with sporadic SRNS was low. Preliminary data suggest that there is a genetic heterogeneity of SRNS in Russian children.
About the Authors
L. S. Prikhodina
ФГУ «МНИИ педиатрии и детской хирургии Росмедтехнологий»
Russian Federation
Russian Federation
N. V. Poltavets
Государственное учреждение Медико-генетический научный центр РАМН, г. Москва
Russian Federation
Russian Federation
N. M. Galeeva
Государственное учреждение Медико-генетический научный центр РАМН, г. Москва
Russian Federation
Russian Federation
E. . Zaklyazminskaya
Государственное учреждение Медико-генетический научный центр РАМН, г. Москва
Russian Federation
Russian Federation
A. V. Polykov
Государственное учреждение Медико-генетический научный центр РАМН, г. Москва
Russian Federation
Russian Federation
V. V. Dlin
ФГУ «МНИИ педиатрии и детской хирургии Росмедтехнологий»
Russian Federation
Russian Federation
M. S. Ignatova
ФГУ «МНИИ педиатрии и детской хирургии Росмедтехнологий»
Russian Federation
Russian Federation
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Review
For citations:
Prikhodina L.S., Poltavets N.V., Galeeva N.M., Zaklyazminskaya E., Polykov A.V., Dlin V.V., Ignatova M.S. Screening for podocin gene (NPHS2) mutations in children with sporadic steroid-resistant nephrotic syndrome. Nephrology and Dialysis. 2007;9(4):434-438. (In Russ.)
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