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Case Reports in Genetics
Volume 2017 (2017), Article ID 2357282, 7 pages
https://doi.org/10.1155/2017/2357282
Case Report

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

1Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam
2Faculty of Medicine and Pharmacy, Vietnam National University, Hanoi, Vietnam
3Vietnam National Hospital of Pediatrics, Hanoi, Vietnam
4Hanoi Medical University, Hanoi, Vietnam

Correspondence should be addressed to Huy Hoang Nguyen

Received 8 November 2016; Revised 26 December 2016; Accepted 13 February 2017; Published 14 March 2017

Academic Editor: David B. Kershaw

Copyright © 2017 Thi Kim Lien Nguyen et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. Kestilä, U. Lenkkeri, M. Männikkö et al., “Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome,” Molecular Cell, vol. 1, no. 4, pp. 575–582, 1998. View at Publisher · View at Google Scholar · View at Scopus
  2. H. J. McCarthy and M. A. Saleem, “Genetics in clinical practice: nephrotic and proteinuric syndromes,” Nephron Experimental Nephrology, vol. 118, no. 1, pp. e1–e8, 2011. View at Publisher · View at Google Scholar · View at Scopus
  3. K. Tryggvason, J. Patrakka, and J. Wartiovaara, “Hereditary proteinuria syndromes and mechanisms of proteinuria,” New England Journal of Medicine, vol. 354, no. 13, pp. 1387–1401, 2006. View at Publisher · View at Google Scholar · View at Scopus
  4. J. Patrakka and K. Tryggvason, “Nephrin—a unique structural and signaling protein of the kidney filter,” Trends in Molecular Medicine, vol. 13, no. 9, pp. 396–403, 2007. View at Publisher · View at Google Scholar · View at Scopus
  5. V. Ruotsalainen, P. Ljungberg, J. Wartiovaara et al., “Nephrin is specifically located at the slit diaphragm of glomerular podocytes,” Proceedings of the National Academy of Sciences of the United States of America, vol. 96, no. 14, pp. 7962–7967, 1999. View at Publisher · View at Google Scholar · View at Scopus
  6. J. Patrakka, M. Kestila, J. Wartiovaara et al., “Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients,” Kidney International, vol. 58, no. 3, pp. 972–980, 2000. View at Publisher · View at Google Scholar · View at Scopus
  7. P. Y. Chuang and J. C. He, “Signaling in regulation of podocyte phenotypes,” Nephron—Physiology, vol. 111, no. 2, pp. 9–15, 2009. View at Publisher · View at Google Scholar · View at Scopus
  8. S. Hattori, S. Kanda, and Y. Harita, “Tyrosine kinase signaling in kidney glomerular podocytes,” Journal of Signal Transduction, vol. 2011, Article ID 317852, 10 pages, 2011. View at Publisher · View at Google Scholar
  9. L. Liu, S. C. Doné, J. Khoshnoodi et al., “Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome,” Human Molecular Genetics, vol. 10, no. 23, pp. 2637–2644, 2001. View at Publisher · View at Google Scholar · View at Scopus
  10. A. Koziell, V. Grech, S. Hussain et al., “Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration,” Human Molecular Genetics, vol. 11, no. 4, pp. 379–388, 2002. View at Publisher · View at Google Scholar · View at Scopus
  11. E. Machuca, G. Benoit, F. Nevo et al., “Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome,” Journal of the American Society of Nephrology, vol. 21, no. 7, pp. 1209–1217, 2010. View at Publisher · View at Google Scholar · View at Scopus
  12. O. Beltcheva, P. Martin, U. Lenkkeri, and K. Tryggvason, “Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome,” Human Mutation, vol. 17, no. 5, pp. 368–373, 2001. View at Publisher · View at Google Scholar · View at Scopus
  13. A. Fuchshuber, P. Niaudet, O. Gribouval et al., “Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population,” Pediatric Nephrology, vol. 10, no. 2, pp. 135–138, 1996. View at Publisher · View at Google Scholar · View at Scopus
  14. S. Bolk, E. G. Puffenberger, J. Hudson, D. H. Morton, and A. Chakravarti, “Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the Old Order Mennonites,” American Journal of Human Genetics, vol. 65, no. 6, pp. 1785–1790, 1999. View at Publisher · View at Google Scholar · View at Scopus
  15. U. Lenkkeri, M. Männikkö, P. McCready et al., “Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations,” The American Journal of Human Genetics, vol. 64, no. 1, pp. 51–61, 1999. View at Publisher · View at Google Scholar · View at Scopus
  16. D. S. Schoeb, G. Chernin, S. F. Heeringa et al., “Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS),” Nephrology Dialysis Transplantation, vol. 25, no. 9, pp. 2970–2976, 2010. View at Publisher · View at Google Scholar · View at Scopus
  17. B. G. Hinkes, B. Mucha, C. N. Vlangos et al., “Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2),” Pediatrics, vol. 119, no. 4, pp. e907–e919, 2007. View at Publisher · View at Google Scholar · View at Scopus
  18. S. F. Heeringa, C. N. Vlangos, G. Chernin et al., “Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome,” Nephrology Dialysis Transplantation, vol. 23, no. 11, pp. 3527–3533, 2008. View at Publisher · View at Google Scholar · View at Scopus
  19. K. Ismaili, K. M. Wissing, F. Janssen, and M. Hall, “Genetic forms of nephrotic syndrome: a single-center experience in Brussels,” Pediatric Nephrology, vol. 24, no. 2, pp. 287–294, 2009. View at Publisher · View at Google Scholar · View at Scopus
  20. Y. Shi, J. Ding, J.-C. Liu, H. Wang, and D.-F. Bu, “NPHS1 mutations in a Chinese family with congenital nephrotic syndrome,” Journal of Pediatrics, vol. 43, no. 11, pp. 805–809, 2005 (Chinese). View at Google Scholar · View at Scopus
  21. K. Aya, H. Tanaka, and Y. Seino, “Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type,” Kidney International, vol. 57, no. 2, pp. 401–404, 2000. View at Publisher · View at Google Scholar · View at Scopus
  22. L. Q. Wu, J. J. Hu, J. J. Xue, and D. S. Liang, “Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome,” Genetics and Molecular Research, vol. 10, no. 4, pp. 2517–2522, 2011. View at Publisher · View at Google Scholar · View at Scopus
  23. P. Kumar, S. Henikoff, and P. C. Ng, “Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm,” Nature Protocols, vol. 4, no. 7, pp. 1073–1082, 2009. View at Publisher · View at Google Scholar · View at Scopus
  24. I. A. Adzhubei, S. Schmidt, L. Peshkin et al., “A method and server for predicting damaging missense mutations,” Nature Methods, vol. 7, no. 4, pp. 248–249, 2010. View at Publisher · View at Google Scholar · View at Scopus
  25. J. M. Schwarz, C. Rödelsperger, M. Schuelke, and D. Seelow, “MutationTaster evaluates disease-causing potential of sequence alterations,” Nature Methods, vol. 7, no. 8, pp. 575–576, 2010. View at Publisher · View at Google Scholar · View at Scopus
  26. R. Fu, M. F. Gou, W. H. Ma, J. J. He, Y. Luan, and J. Liu, “Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome,” Genetics and Molecular Research, vol. 14, no. 1, pp. 433–439, 2015. View at Publisher · View at Google Scholar · View at Scopus
  27. B. H. Lee, Y. H. Ahn, H. J. Choi et al., “Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type,” Journal of Korean Medical Science, vol. 24, no. 1, pp. S210–S214, 2009. View at Publisher · View at Google Scholar · View at Scopus
  28. S. Santín, R. García-Maset, P. Ruíz et al., “Nephrin mutations cause childhood-and adult-onset focal segmental glomerulosclerosis,” Kidney International, vol. 76, no. 12, pp. 1268–1276, 2009. View at Publisher · View at Google Scholar · View at Scopus
  29. Z. H. Yu, D. J. Wang, D. C. Meng, J. Huang, and X. J. Nie, “Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome,” Genetics and Molecular Research, vol. 11, no. 2, pp. 1460–1464, 2012. View at Publisher · View at Google Scholar · View at Scopus
  30. E. De Angelis, J. MacFarlane, J.-S. Du et al., “Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities,” EMBO Journal, vol. 18, no. 17, pp. 4744–4753, 1999. View at Publisher · View at Google Scholar · View at Scopus
  31. S. H. Cheng, R. J. Gregory, J. Marshall et al., “Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis,” Cell, vol. 63, no. 4, pp. 827–834, 1990. View at Publisher · View at Google Scholar · View at Scopus
  32. Z. Zhou, Q. Gong, M. L. Epstein, and C. T. January, “HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects,” The Journal of Biological Chemistry, vol. 273, no. 33, pp. 21061–21066, 1998. View at Publisher · View at Google Scholar · View at Scopus