Display options
Cite
Gong B, Wei B, Huang L, et al. Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. J Ophthalmol. 2015;2015:942740doi: 10.1155/2015/942740.
Gong, B., Wei, B., Huang, L., Hao, J., Li, X., Yang, Y., Zhou, Y., Hao, F., Cui, Z., Zhang, D., Wang, L., & Zhang, H. (2015). Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. Journal of ophthalmology, 2015942740. https://doi.org/10.1155/2015/942740
Gong, Bo, et al. "Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa." Journal of ophthalmology vol. 2015 (2015): 942740. doi: https://doi.org/10.1155/2015/942740
Gong B, Wei B, Huang L, Hao J, Li X, Yang Y, Zhou Y, Hao F, Cui Z, Zhang D, Wang L, Zhang H. Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa. J Ophthalmol. 2015;2015:942740. doi: 10.1155/2015/942740. Epub 2015 Jun 01. PMID: 26124963; PMCID: PMC4466393.
Copy Download .nbib Format: NLM
Share it on

J Ophthalmol. 2015;2015:942740. doi: 10.1155/2015/942740. Epub 2015 Jun 01.

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.

Journal of ophthalmology

Bo Gong, Bo Wei, Lulin Huang, Jilong Hao, Xiulan Li, Yin Yang, Yu Zhou, Fang Hao, Zhihua Cui, Dingding Zhang, Le Wang, Houbin Zhang

Affiliations

  1. Sichuan Provincial Key Laboratory for Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China ; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
  2. China-Japan Union Hospital of Jilin University, Neurosurgery, Changchun, Jilin 130103, China.
  3. Department of Ophthalmology, The First Hospital of Jilin University, Changchun, Jilin 130103, China.

PMID: 26124963 PMCID: PMC4466393 DOI: 10.1155/2015/942740

Abstract

Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family) and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437T

References

  1. Ophthalmology. 2010 Jun;117(6):1190-8 - PubMed
  2. J Med Genet. 2012 May;49(5):322-6 - PubMed
  3. Mol Vis. 2011;17 :2706-16 - PubMed
  4. J Biol Chem. 2002 Nov 22;277(47):45537-46 - PubMed
  5. Hum Mol Genet. 2005 Dec 15;14(24):3865-75 - PubMed
  6. Invest Ophthalmol Vis Sci. 2014 Feb 24;55(2):1149-60 - PubMed
  7. Invest Ophthalmol Vis Sci. 2014 Apr 07;55(4):2121-9 - PubMed
  8. Nature. 2009 Sep 10;461(7261):272-6 - PubMed
  9. Clin Genet. 2013 Aug;84(2):132-41 - PubMed
  10. Invest Ophthalmol Vis Sci. 2013 Jun 14;54(6):4158-66 - PubMed
  11. Nat Genet. 2004 Aug;36(8):850-4 - PubMed
  12. Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1824-31 - PubMed
  13. PLoS One. 2014 Mar 14;9(3):e91962 - PubMed
  14. Biomed Res Int. 2014;2014:302487 - PubMed
  15. PLoS One. 2014 Sep 30;9(9):e108721 - PubMed
  16. Lancet. 2006 Nov 18;368(9549):1795-809 - PubMed
  17. Arch Ophthalmol. 2008 Sep;126(9):1301-7 - PubMed
  18. Hum Mol Genet. 2002 May 15;11(10):1219-27 - PubMed
  19. Orphanet J Rare Dis. 2006 Oct 11;1:40 - PubMed
  20. Am J Hum Genet. 2004 Oct;75(4):639-46 - PubMed
  21. Gene. 2013 Oct 10;528(2):178-82 - PubMed
  22. DNA Cell Biol. 2014 Dec;33(12):876-83 - PubMed
  23. Vision Res. 2007 Jul;47(15):2055-66 - PubMed
  24. Biochemistry. 2005 May 10;44(18):7035-47 - PubMed
  25. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1065-8 - PubMed
  26. Nat Genet. 2010 Jan;42(1):30-5 - PubMed
  27. Hum Mutat. 2012 Jun;33(6):963-72 - PubMed
  28. Mol Vis. 2010 Dec 03;16:2550-8 - PubMed

Publication Types