Table of Contents Author Guidelines Submit a Manuscript
The Scientific World Journal
Volume 2015, Article ID 309410, 6 pages
http://dx.doi.org/10.1155/2015/309410
Research Article

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

1The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, China
2The Special Inspection Department, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha 410007, China
3State Key Laboratory of Medical Genetics, Central South University, Changsha 410008, China
4Department of Ophthalmology, Xiangya 2nd Hospital, Central South University, Changsha 410013, China

Received 2 July 2014; Accepted 2 March 2015

Academic Editor: Tangui Maurice

Copyright © 2015 Yong-jia Yang 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. Town, G. Jean, S. Cherqui et al., “A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis,” Nature Genetics, vol. 18, no. 4, pp. 319–324, 1998. View at Publisher · View at Google Scholar · View at Scopus
  2. The Cystinosis Collaborative Research Group, “Linkage of the gene for cystinosis to markers on the short arm of chromosome 17,” Nature Genetics, vol. 10, no. 2, pp. 246–248, 1995. View at Google Scholar
  3. W. A. Gahl, J. G. Thoene, and J. A. Schneider, “Medical progress: cystinosis,” The New England Journal of Medicine, vol. 347, no. 2, pp. 111–121, 2002. View at Publisher · View at Google Scholar · View at Scopus
  4. V. Kalatzis, S. Cherqui, G. Jean et al., “Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany,” Journal of the American Society of Nephrology, vol. 12, no. 10, pp. 2170–2174, 2001. View at Google Scholar · View at Scopus
  5. E. Levtchenko, L. van den Heuvel, F. Emma, and C. Antignac, “Clinical utility gene card for: cystinosis,” European Journal of Human Genetics, vol. 22, no. 5, 2014. View at Publisher · View at Google Scholar · View at Scopus
  6. P. Yeetong, S. Tongkobpetch, P. Kingwatanakul et al., “Two novel CTNS mutations in cystinosis patients in Thailand,” Gene, vol. 499, no. 2, pp. 323–325, 2012. View at Publisher · View at Google Scholar · View at Scopus
  7. J. Thoene, R. Lemons, Y. Anikster et al., “Mutations of CTNS causing intermediate cystinosis,” Molecular Genetics and Metabolism, vol. 67, no. 4, pp. 283–293, 1999. View at Publisher · View at Google Scholar · View at Scopus
  8. H. Ota, T. Nomura, M. Ogawa, H. Toyoda, H. Yamamoto, and M. Taki, “A Japanese infant with nephropathic cystinosis,” Journal of the Japan Pediatric Society, vol. 104, pp. 78–81, 2000. View at Google Scholar
  9. S. Shahkarami, H. Galehdari, A. Ahmadzadeh, M. Babaahmadi, and M. Pedram, “The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran,” Nefrologia, vol. 33, no. 3, pp. 308–315, 2013. View at Publisher · View at Google Scholar · View at Scopus
  10. Y.-W. Chuang, M.-C. Wen, M.-J. Wu et al., “Follow-up and treatment of renal transplantation with nephropathic cystinosis in central Taiwan,” Transplantation Proceedings, vol. 44, no. 1, pp. 80–82, 2012. View at Publisher · View at Google Scholar · View at Scopus
  11. J.-L. Wang, L. Cao, X.-H. Li et al., “Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias,” Brain, vol. 134, no. 12, pp. 3490–3498, 2011. View at Publisher · View at Google Scholar · View at Scopus
  12. R. Li, Y. Li, K. Kristiansen, and J. Wang, “SOAP: short oligonucleotide alignment program,” Bioinformatics, vol. 24, no. 5, pp. 713–714, 2008. View at Publisher · View at Google Scholar · View at Scopus
  13. Y. J. Yang, J. H. Guo, W. J. Chen et al., “First report of HGD mutations in a Chinese with alkaptonuria,” Gene, vol. 518, no. 2, pp. 467–469, 2013. View at Publisher · View at Google Scholar · View at Scopus
  14. V. Kalatzis and C. Antignac, “Cystinosis: from gene to disease,” Nephrology Dialysis Transplantation, vol. 17, no. 11, pp. 1883–1886, 2002. View at Publisher · View at Google Scholar · View at Scopus
  15. S. Tang, S. Danda, M. Zoleikhaeian, M. Simon, and T. Huang, “An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation,” Genetic Testing and Molecular Biomarkers, vol. 13, no. 4, pp. 435–438, 2009. View at Publisher · View at Google Scholar · View at Scopus
  16. B. Liu, H. Du, R. Rutkowski, A. Gartner, and X. Wang, “LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis,” Science, vol. 337, no. 6092, pp. 351–354, 2012. View at Publisher · View at Google Scholar · View at Scopus
  17. A. Bertholet-Thomas, J. Bacchetta, V. Tasic, and P. Cochat, “Nephropathic cystinosis—a gap between developing and developed nations,” The New England Journal of Medicine, vol. 370, no. 14, pp. 1366–1367, 2014. View at Publisher · View at Google Scholar · View at Scopus
  18. C. Bergwitz, N. M. Roslin, M. Tieder et al., “SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis,” American Journal of Human Genetics, vol. 78, no. 2, pp. 179–192, 2006. View at Publisher · View at Google Scholar · View at Scopus
  19. D. Magen, L. Berger, M. J. Coady et al., “A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome,” The New England Journal of Medicine, vol. 362, no. 12, pp. 1102–1109, 2010. View at Publisher · View at Google Scholar · View at Scopus