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Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome

  • Li, Guo-min1
  • Cao, Qi1
  • Shen, Qian1
  • Sun, Li1
  • Zhai, Yi-hui1
  • Liu, Hai-mei1
  • An, Yu2
  • Xu, Hong1
  • 1 Children’s Hospital of Fudan University, 399 Wanyuanlu, Shanghai, 201102, China , Shanghai (China)
  • 2 Institutes of Biomedical Sciences of Fudan University, 220 Handanlu, Shanghai, 200433, China , Shanghai (China)
Published Article
BMC Nephrology
Springer (Biomed Central Ltd.)
Publication Date
Dec 29, 2018
DOI: 10.1186/s12882-018-1184-y
Springer Nature


BackgroundCongenital nephrotic syndrome (CNS) is characterised by increased proteinuria, hypoproteinemia, and edema beginning in the first 3 months of life. Recently, molecular genetic studies have identified several genes involved in the pathogenesis of CNS. A systematic investigation of the genes for CNS in China has never been performed; therefore, we conducted a mutational analysis in 12 children with CNS,with the children coming from 10 provinces and autonomous regions in China.MethodsTwelve children with CNS were enrolled from 2009 to 2016. A mutational analysis was performed in six children by Sanger sequencing in eight genes (NPHS1, NPHS2, PLCE1, WT1, LAMB2, LMXIB, COQ6 and COQ2) before 2014, and whole-exome sequencing was used from 2014 to 2016 in another six children. Significant variants that were detected by next generation sequencing were confirmed by conventional Sanger sequencing in the patients’ families.ResultsOf the 12 children, eight patients had a compound heterozygous NPHS1 mutation, one patient had a de novo mutation in the WT1 gene, and another patient with extrarenal symptoms had a homozygous mutation in the COQ6 gene. No mutations were detected in genes NPHS2, PLCE1, LAMB2, LMXIB, and COQ2 in the 12 patients.ConclusionsThis study demonstrates that the majority of CNS cases (67%, 8/12 patients) are caused by genetic defects, and the NPHS1 mutation is the most common cause of CNS in Chinese patients. A mutational analysis of NPHS1 should be recommended in Chinese patients with CNS in all exons of NPHS1 and in the intron-exon boundaries.

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