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NDT Advance Access originally published online on March 25, 2009
Nephrology Dialysis Transplantation 2009 24(8):2411-2414; doi:10.1093/ndt/gfp122
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© The Author [2009]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome

Kunihiko Aya1, Junya Shimizu2, Yoshiyuki Ohtomo3, Kenichi Satomura4, Hoshiro Suzuki5, Kunimasa Yan6, Yoshikazu Sado7, Tsuneo Morishima1 and Hiroyuki Tanaka1

1 Department of Pediatrics, Okayama University Medical School 2 Department of Pediatrics, National Okayama Medical Center, Okayama, Okayama 3 Department of Pediatrics, Saitama Children's Medical Center, Iwatsuki, Saitama 4 Department of Pediatric Nephrology and Metabolism, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka 5 Department of Pediatrics, Iwaki Kyoritu General Hospital, Iwaki, Fukushima 6 Department of Pediatrics, Kyorin University School of Medicine, Mitaka, Tokyo 7 Shigei Medical Research Institute, Okayama, Okayama, Japan

Correspondence and offprint requests to: Kunihiko Aya; E-mail: kuniaya{at}cc.okayama-u.ac.jp



  Abstract

Background and Methods. The NPHS1gene was analysed in different five Japanese patients with congenital nephrotic syndrome (CNS) from the patients in a previous report (Sako M, Nakanishi K, Obana M et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int 2005; 67: 1248–1255) that suggested that the mutation of NPHS1 was not a major cause of CNS in Japanese patients.

Genomic DNA was extracted from leukocytes, and all exons and exon–intron boundaries were analysed for NPHS1 using polymerase chain reaction and direct sequencing.

Results and Conclusions. Compound heterozygous mutations of NPHS1 were found in four patients and homozygous mutations in one patient. Interestingly, three patients out of five had the same mutation in NPHS1: nt2515(delC). Parents who had this mutation heterozygously were from neighbouring prefectures. Two among five patients in this research and one in the previous report (Kidney Int 2005; 67:1248–1255) had the same mutation: 736G > T in exon 7. All mutations including these two mutations except for one have never been reported outside of Japan yet.

Keywords: congenital nephrotic syndrome; haplotype; Japanese; nephrin; NPHS1

Received for publication: 28. 3.08
Accepted in revised form: 2. 3.09


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