The Indian Journal of Pediatrics

, Volume 84, Issue 6, pp 489–490 | Cite as

Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome

Scientific Letter
  • 122 Downloads

Keywords

Nephrotic Syndrome Preterm Infant Full Term Infant Heterozygous Mutation Filter Barrier 

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

None.

References

  1. 1.
    Wang JJ, Mao JH. The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016;12:149–58.CrossRefPubMedGoogle Scholar
  2. 2.
    Guaragna MS, Cleto TL, Souza ML, et al. NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: a novel mutation is described. Nephrology (Carlton). 2015; doi: 10.1111/nep.12667.Google Scholar
  3. 3.
    Fu R, Gou MF, Ma WH, He JJ, Luan Y, Liu J. Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. Genet Mol Res. 2015;14:433–9.CrossRefPubMedGoogle Scholar
  4. 4.
    Yu ZH, Wang DJ, Meng DC, Huang J, Nie XJ. Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome. Genet Mol Res. 2012;11:1460–4.CrossRefPubMedGoogle Scholar
  5. 5.
    Schoeb DS, Chernin G, Heeringa SF, et al; Gesselschaft fur Paediatrische Nephrologie (GPN) study group. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant. 2010;25:2970–6.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  1. 1.Department of Pediatrics, Beijing Chaoyang HospitalCapital Medical UniversityBeijingChina

Personalised recommendations