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Nephrol Dial Transplant. 2009 Aug;24(8):2411-4. doi: 10.1093/ndt/gfp122. Epub 2009 Mar 25.

NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.

Author information

1
Department of Pediatrics, Okayama University Medical School, National Okayama Medical Center,Okayama, Okayama, Japan. kuniaya@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.

PMID:
19321760
DOI:
10.1093/ndt/gfp122
[Indexed for MEDLINE]

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