Table of Contents Author Guidelines Submit a Manuscript
Journal of Ophthalmology
Volume 2017, Article ID 4156386, 10 pages
https://doi.org/10.1155/2017/4156386
Research Article

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family

1Southwest Hospital and Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China
2Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400038, China
3Department of Medical Genetics, Third Military Medical University, Chongqing 400038, China

Correspondence should be addressed to Shiying Li; moc.621@il_gniyihs and Zhengqin Yin; moc.nuyila@niyzniq

Received 16 May 2017; Accepted 2 July 2017; Published 7 August 2017

Academic Editor: Mineo Kondo

Copyright © 2017 Xiaohong Meng 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. J. A. Boughman, P. M. Conneally, and W. E. Nance, “Population genetic studies of retinitis pigmentosa,” American Journal of Human Genetics, vol. 32, no. 2, pp. 223–235, 1980. View at Google Scholar
  2. C. Ayuso and J. M. Millan, “Retinitis pigmentosa and allied conditions today: a paradigm of translational research,” Genome Medicine, vol. 2, no. 5, p. 34, 2010. View at Publisher · View at Google Scholar · View at Scopus
  3. K. P. Lim, S. P. Yip, S. C. Cheung, K. W. Leung, S. T. Lam, and To CH, “Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa,” Archives of Ophthalmology, vol. 127, no. 6, pp. 784–790, 2009. View at Publisher · View at Google Scholar · View at Scopus
  4. B. V. V. E. Alvarez, Z. Yang, A. H. Koh et al., “Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa,” Investigative Ophthalmology & Visual Science, vol. 48, no. 8, pp. 3459–3468, 2007. View at Publisher · View at Google Scholar · View at Scopus
  5. L. Wang, M. Ribaudo, K. Zhao et al., “Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family,” American Journal of Medical Genetics Part A, vol. 121A, no. 3, pp. 235–239, 2003. View at Publisher · View at Google Scholar
  6. H. Guo, Y. Qin, Q. Meng, H. Zhang, H. Jin, and Y. Chen, “Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa,” Journal of Human Genetics, vol. 55, no. 9, pp. 571–576, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. C. Zhao, D. L. Bellur, S. Lu et al., “Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs,” American Journal of Human Genetics, vol. 85, no. 5, pp. 617–627, 2009. View at Publisher · View at Google Scholar · View at Scopus
  8. M. I. Kaiser-Kupfer, C. C. Chan, T. C. Markello et al., “Clinical biochemical and pathologic correlations in Bietti’s crystalline dystrophy,” American Journal of Ophthalmology, vol. 118, no. 5, pp. 569–582, 1994. View at Publisher · View at Google Scholar
  9. A. Li, X. Jiao, F. L. Munier et al., “Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2,” American Journal of Human Genetics, vol. 74, no. 5, pp. 817–826, 2004. View at Publisher · View at Google Scholar · View at Scopus
  10. T. Gekka, T. Hayashi, T. Takeuchi, S. Goto-Omoto, and K. Kitahara, “CYP4V2 mutations in two Japanese patients with Bietti’s crystalline dystrophy,” Ophthalmic Research, vol. 37, no. 5, pp. 262–269, 2005. View at Publisher · View at Google Scholar · View at Scopus
  11. K. Y. Lee, A. H. Koh, T. Aung et al., “Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations,” Investigative Ophthalmology & Visual Science, vol. 46, no. 10, pp. 3812–3816, 2005. View at Publisher · View at Google Scholar · View at Scopus
  12. J. Lin, K. M. Nishiguchi, M. Nakamura, T. P. Dryja, E. L. Berson, and Y. Miyake, “Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy,” Journal of Medical Genetics, vol. 42, no. 6, article e38, 2005. View at Publisher · View at Google Scholar
  13. M. Shan, B. Dong, X. Zhao et al., “Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy,” Molecular Vision, vol. 11, pp. 738–743, 2005. View at Google Scholar
  14. Y. Wada, T. Itabashi, H. Sato, M. Kawamura, A. Tada, and M. Tamai, “Screening for mutations in CYP4V2 gene in Japanese patients with Bietti’s crystalline corneoretinal dystrophy,” American Journal of Ophthalmology, vol. 139, no. 5, pp. 894–899, 2005. View at Publisher · View at Google Scholar · View at Scopus
  15. Z. B. Jin, S. Ito, Y. Saito, Y. Inoue, Y. Yanagi, and N. Nao-i, “Clinical and molecular findings in three Japanese patients with crystalline retinopathy,” Japanese Journal of Ophthalmology, vol. 50, no. 5, pp. 426–431, 2006. View at Publisher · View at Google Scholar · View at Scopus
  16. T. Y. Lai, T. K. Ng, P. O. Tam et al., “Genotype phenotype analysis of Bietti’s crystalline dystrophy in patients with CYP4V2 mutations,” Investigative Ophthalmology & Visual Science, vol. 48, no. 11, pp. 5212–5220, 2007. View at Publisher · View at Google Scholar · View at Scopus
  17. J. C. Zenteno, R. Ayala-Ramirez, and F. Graue-Wiechers, “Novel CYP4V2 gene mutation in a Mexican patient with Bietti’s crystalline corneoretinal dystrophy,” Current Eye Research, vol. 33, no. 4, pp. 313–318, 2008. View at Publisher · View at Google Scholar · View at Scopus
  18. D. N. Liu, Y. Liu, X. H. Meng, and Z. Q. Yin, “The characterization of functional disturbances in Chinese patients with Bietti’s crystalline dystrophy at different fundus stages,” Graefe’s Archive for Clinical and Experimental Ophthalmology, vol. 250, no. 2, pp. 191–200, 2012. View at Publisher · View at Google Scholar · View at Scopus
  19. G. Giuffre, “Progression of Bietti’s crystalline dystrophy,” Journal Francais d’Ophtalmologie, vol. 14, no. 4, pp. 249–254, 1991. View at Google Scholar
  20. C. F. Chakarova, M. M. Hims, H. Bolz et al., “Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa,” Human Molecular Genetics, vol. 11, no. 1, pp. 87–92, 2002. View at Publisher · View at Google Scholar
  21. V. Vaclavik, M. C. Gaillard, L. Tiab, D. F. Schorderet, and F. L. Munier, “Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene,” Molecular Vision, vol. 16, pp. 467–475, 2010. View at Google Scholar
  22. Y. Wada, T. Itabashi, H. Sato, and M. Tamai, “Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene,” Graefe’s Archive for Clinical and Experimental, vol. 242, no. 11, pp. 956–961, 2004. View at Publisher · View at Google Scholar · View at Scopus
  23. C. Kim, K. J. Kim, J. Bok et al., “Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa,” Molecular Vision, vol. 18, pp. 2398–2410, 2012. View at Google Scholar
  24. M. Martínez-Gimeno, M. J. Gamundi, I. Hernan et al., “Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa,” Investigative Ophthalmology & Visual Science, vol. 44, no. 5, pp. 2171–2177, 2003. View at Publisher · View at Google Scholar · View at Scopus
  25. F. Blanco-Kelly, M. García-Hoyos, M. Cortón et al., “Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa,” Molecular Vision, vol. 18, pp. 1478–1483, 2012. View at Google Scholar
  26. X. H. Meng, H. Guo, H. W. Xu et al., “Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy,” Molecular Vision, vol. 20, pp. 1806–1814, 2014. View at Google Scholar