Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2017, Article ID 7518789, 6 pages
https://doi.org/10.1155/2017/7518789
Review Article

NPHS2 Mutations: A Closer Look to Latin American Countries

1Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas (UNICAMP), Campinas, SP, Brazil
2Integrated Center of Pediatric Nephrology (CIN), Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil
3Department of Medical Genetics, School of Medical Sciences (FCM), Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP, Brazil
4Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), Pediatrics Endocrinology, Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas, UNICAMP, Campinas, SP, Brazil

Correspondence should be addressed to Mara Sanches Guaragna; moc.liamg@angaraug.aram

Received 3 March 2017; Revised 2 June 2017; Accepted 8 June 2017; Published 12 July 2017

Academic Editor: Andreas Kronbichler

Copyright © 2017 Mara Sanches Guaragna 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. H. Y. Gee, F. Zhang, S. Ashraf et al., “KANK deficiency leads to podocyte dysfunction and nephrotic syndrome,” Journal of Clinical Investigation, vol. 125, no. 6, pp. 2375–2384, 2015. View at Publisher · View at Google Scholar · View at Scopus
  2. L. Ebarasi, S. Ashraf, A. Bierzynska et al., “Defects of CRB2 cause steroid-resistant nephrotic syndrome,” American Journal of Human Genetics, vol. 96, no. 1, pp. 153–161, 2015. View at Publisher · View at Google Scholar · View at Scopus
  3. S. Lovric, H. Fang, V. Vega-Warner et al., “Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome,” Clinical Journal of the American Society of Nephrology, vol. 9, no. 6, pp. 1109–1116, 2014. View at Publisher · View at Google Scholar · View at Scopus
  4. H. Y. Gee, S. Ashraf, X. Wan et al., “Mutations in EMP2 cause childhood-onset Nephrotic syndrome,” American Journal of Human Genetics, vol. 94, no. 6, pp. 884–890, 2014. View at Publisher · View at Google Scholar · View at Scopus
  5. C. E. Sadowski, S. Lovric, S. Ashraf et al., “A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome,” Journal of the American Society of Nephrology, vol. 26, no. 6, pp. 1279–1289, 2015. View at Publisher · View at Google Scholar
  6. A. Bierzynska, H. J. McCarthy, K. Soderquest et al., “Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management,” Kidney International, vol. 91, no. 4, pp. 937–947, 2017. View at Publisher · View at Google Scholar
  7. H. Cheong II, H. W. Han, H. W. Park et al., “Early recurrent nephrotic syndrome after renal transplantation in children with focal segmental glomerulosclerosis,” Nephrology Dialysis Transplantation, vol. 15, no. 1, pp. 78–81, 2000. View at Google Scholar · View at Scopus
  8. J. M. Smith, D. M. Stablein, R. Munoz, D. Hebert, and R. A. McDonald, “Contributions of the transplant registry: The 2006 annual report of the north american pediatric renal trials and collaborative studies (NAPRTCS),” Pediatric Transplantation, vol. 11, no. 4, pp. 366–373, 2007. View at Publisher · View at Google Scholar · View at Scopus
  9. E. Ingulli and A. Tejani, “Racial differences in the incidence and renal outcome of idiopathic focal segmental glomerulosclerosis in children,” Pediatric Nephrology, vol. 5, no. 4, pp. 393–397, 1991. View at Publisher · View at Google Scholar · View at Scopus
  10. B. Haraldsson, J. Nyström, and W. M. Deen, “Properties of the glomerular barrier and mechanisms of proteinuria,” Physiological Reviews, vol. 88, no. 2, pp. 451–487, 2008. View at Publisher · View at Google Scholar · View at Scopus
  11. R. C. Wiggins, “The spectrum of podocytopathies: a unifying view of glomerular diseases,” Kidney International, vol. 71, no. 12, pp. 1205–1214, 2007. View at Publisher · View at Google Scholar · View at Scopus
  12. G. Benoit, E. MacHuca, and C. Antignac, “Hereditary nephrotic syndrome: A systematic approach for genetic testing and a review of associated podocyte gene mutations,” Pediatric Nephrology, vol. 25, no. 9, pp. 1621–1632, 2010. View at Publisher · View at Google Scholar · View at Scopus
  13. S. Lovric, S. Ashraf, W. Tan, and F. Hildebrandt, “Genetic testing in steroid-resistant nephrotic syndrome: when and how?” Nephrology Dialysis Transplantation, 2015. View at Publisher · View at Google Scholar
  14. 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
  15. N. Boute, O. Gribouval, S. Roselli et al., “NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome,” Nature Genetics, vol. 24, no. 4, pp. 349–354, 2000. View at Publisher · View at Google Scholar · View at Scopus
  16. S. Roselli, O. Gribouval, N. Boute et al., “Podocin localizes in the kidney to the slit diaphragm area,” American Journal of Pathology, vol. 160, no. 1, pp. 131–139, 2002. View at Publisher · View at Google Scholar · View at Scopus
  17. T. B. Huber, M. Simons, B. Hartleben et al., “Molecular basis of the functional podocin-nephrin complex: Mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains,” Human Molecular Genetics, vol. 12, no. 24, pp. 3397–3405, 2003. View at Publisher · View at Google Scholar · View at Scopus
  18. T. B. Huber, M. Köttgen, B. Schilling, G. Walz, and T. Benzing, “Interaction with podocin facilitates nephrin signaling,” Journal of Biological Chemistry, vol. 276, no. 45, pp. 41543–41546, 2001. View at Publisher · View at Google Scholar · View at Scopus
  19. K. Schwarz, M. Simons, J. Reiser et al., “Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin,” Journal of Clinical Investigation, vol. 108, no. 11, pp. 1621–1629, 2001. View at Publisher · View at Google Scholar · View at Scopus
  20. S. M. Karle, B. Uetz, V. Ronner, L. Glaeser, F. Hildebrandt, and A. Fuchshuber, “Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome,” Journal of the American Society of Nephrology, vol. 13, no. 2, pp. 388–393, 2002. View at Google Scholar · View at Scopus
  21. A. Berdeli, S. Mir, O. Yavascan et al., “NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome,” Pediatric Nephrology, vol. 22, no. 12, pp. 2031–2040, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. S. Weber, O. Gribouval, E. L. Esquivel et al., “NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence,” Kidney International, vol. 66, no. 2, pp. 571–579, 2004. View at Publisher · View at Google Scholar · View at Scopus
  23. B. Hinkes, C. Vlangos, S. Heeringa et al., “Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome,” Journal of the American Society of Nephrology, vol. 19, no. 2, pp. 365–371, 2008. View at Publisher · View at Google Scholar · View at Scopus
  24. K. Bouchireb, O. Boyer, O. Gribouval et al., “NPHS2 mutations in steroid-resistant nephrotic syndrome: A mutation update and the associated phenotypic spectrum,” Human Mutation, vol. 35, no. 2, pp. 178–186, 2014. View at Publisher · View at Google Scholar · View at Scopus
  25. P. C. Ng and S. Henikoff, “Predicting deleterious amino acid substitutions,” Genome Research, vol. 11, no. 5, pp. 863–874, 2001. View at Publisher · View at Google Scholar · View at Scopus
  26. V. Ramensky, P. Bork, and S. Sunyaev, “Human non-synonymous SNPs: server and survey,” Nucleic Acids Research, vol. 30, no. 17, pp. 3894–3900, 2002. View at Publisher · View at Google Scholar · View at Scopus
  27. M. G. Reese, F. H. Eeckman, D. Kulp, and D. Haussler, “Improved splice site detection in Genie,” Journal of Computational Biology, vol. 4, no. 3, pp. 311–323, 1997. View at Publisher · View at Google Scholar · View at Scopus
  28. F. Wang, Y. Zhang, J. Mao et al., “Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome,” Pediatric Nephrology, vol. 32, no. 7, pp. 1181–1192, 2017. View at Publisher · View at Google Scholar
  29. M. C. Dhandapani, V. Venkatesan, N. B. Rengaswamy et al., “Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children,” Clinical and Experimental Nephrology, pp. 1-2, 2016. View at Publisher · View at Google Scholar · View at Scopus
  30. A. S. K. Ramanathan, M. Vijayan, S. Rajagopal, P. Rajendiran, and P. Senguttuvan, “WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome,” Molecular and Cellular Biochemistry, pp. 1–5, 2016. View at Publisher · View at Google Scholar · View at Scopus
  31. A. Jaffer, W. Unnisa, D. Raju, and P. Jahan, “NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians,” Nephrology, vol. 19, no. 7, pp. 398–403, 2014. View at Publisher · View at Google Scholar · View at Scopus
  32. E. Benetti, G. Caridi, S. Centi et al., “mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis,” Saudi Journal of Kidney Diseases and Transplantation, vol. 25, no. 4, pp. 854–857, 2014. View at Publisher · View at Google Scholar · View at Scopus
  33. M. Basiratnia, M. Yavarian, S. Torabinezhad, and A. Erjaee, “NPHS2 gene in steroid-resistant nephrotic syndrome: Prevalence, clinical course, and mutational spectrum in south-west Iranian children,” Iranian Journal of Kidney Diseases, vol. 7, no. 5, pp. 357–362, 2013. View at Google Scholar · View at Scopus
  34. V. Jain, J. Feehally, G. Jones, L. Robertson, D. Nair, and P. Vasudevan, “Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): Report from a three-generation family,” Clinical Kidney Journal, vol. 7, no. 3, pp. 303–305, 2014. View at Publisher · View at Google Scholar · View at Scopus
  35. L.-P. Laurin, M. Lu, A. K. Mottl, E. R. Blyth, C. J. Poulton, and K. E. Weck, “Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis,” Nephrology Dialysis Transplantation, vol. 29, no. 11, pp. 2062–2069, 2014. View at Publisher · View at Google Scholar · View at Scopus
  36. P. J. Phelan, G. Hall, D. Wigfall et al., “Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation,” Clinical Kidney Journal, vol. 8, no. 5, pp. 538–542, 2015. View at Publisher · View at Google Scholar · View at Scopus
  37. A. Bińczak-Kuleta, J. Rubik, M. Litwin et al., “Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis – A single-centre experience,” Bosnian Journal of Basic Medical Sciences, vol. 14, no. 2, pp. 89–93, 2014. View at Google Scholar · View at Scopus
  38. M. Suvanto, J. Patrakka, T. Jahnukainen et al., “Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern,” Clinical and Experimental Nephrology, pp. 1–8, 2016. View at Publisher · View at Google Scholar · View at Scopus
  39. J. A. Kari, S. M. El-Desoky, M. Gari et al., “Steroid-resistant nephrotic syndrome: Impact of genetic testing,” Annals of Saudi Medicine, vol. 33, no. 6, pp. 533–538, 2013. View at Publisher · View at Google Scholar · View at Scopus
  40. D. Ogino, T. Hashimoto, M. Hattori et al., “Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis,” Journal of Human Genetics, vol. 61, no. 2, pp. 137–141, 2016. View at Publisher · View at Google Scholar · View at Scopus
  41. J. S. Carrasco-Miranda, R. Garcia-Alvarez, R. R. Sotelo-Mundo, O. Valenzuela, M. A. Islas-Osuna, and N. Sotelo-Cruz, “Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment,” Genetics and Molecular Research, vol. 12, no. 2, pp. 2102–2107, 2013. View at Publisher · View at Google Scholar · View at Scopus
  42. M. Azocar, Á. Vega, M. Farfán, and F. Cano, “NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome,” Revista Chilena de Pediatria, vol. 87, no. 1, pp. 31–36, 2016. View at Publisher · View at Google Scholar · View at Scopus
  43. M. S. Guaragna, A. C. G. B. Lutaif, C. S. C. Piveta et al., “NPHS2 mutations account for only 15% of nephrotic syndrome cases,” BMC Medical Genetics, vol. 16, no. 1, article 88, 2015. View at Publisher · View at Google Scholar · View at Scopus
  44. R. G. Ruf, A. Lichtenberger, S. M. Karle et al., “Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome,” Journal of the American Society of Nephrology, vol. 15, no. 3, pp. 722–732, 2004. View at Publisher · View at Google Scholar · View at Scopus
  45. S. Megremis, A. Mitsioni, A. G. Mitsioni et al., “Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome,” Genetic Testing and Molecular Biomarkers, vol. 13, no. 2, pp. 249–256, 2009. View at Publisher · View at Google Scholar · View at Scopus
  46. Z. Yu, J. Ding, J. Huang et al., “Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children,” Nephrology Dialysis Transplantation, vol. 20, no. 5, pp. 902–908, 2005. View at Publisher · View at Google Scholar · View at Scopus
  47. A. Vasudevan, A. Siji, A. Raghavendra, T. S. Sridhar, and K. D. Phadke, “NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome,” Indian Pediatrics, vol. 49, no. 3, pp. 231–233, 2012. View at Publisher · View at Google Scholar · View at Scopus
  48. K. Maruyama, K. Iijima, M. Ikeda et al., “NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children,” Pediatric Nephrology, vol. 18, no. 5, pp. 412–416, 2003. View at Google Scholar · View at Scopus
  49. A. Abid, S. Khaliq, S. Shahid et al., “A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan,” Gene, vol. 502, no. 2, pp. 133–137, 2012. View at Publisher · View at Google Scholar · View at Scopus
  50. H. Y. Cho, J. H. Lee, H. J. Choi et al., “WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome,” Pediatric Nephrology, vol. 23, no. 1, pp. 63–70, 2008. View at Publisher · View at Google Scholar · View at Scopus
  51. M. Azócar, “El Síndrome Nefrótico y el Diagnóstico Genético en Pediatría,” Revista Chilena de Pediatría, vol. 82, no. 1, pp. 12–20, 2011. View at Publisher · View at Google Scholar
  52. E. Machuca, A. Hummel, F. Nevo et al., “Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant,” Kidney International, vol. 75, no. 7, pp. 727–735, 2009. View at Publisher · View at Google Scholar · View at Scopus