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Article

Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy

  • Authors:
    • Li Huang
    • Shiqiang Li
    • Xueshan Xiao
    • Xiaoyun Jia
    • Panfeng Wang
    • Xiangming Guo
    • Qingjiong Zhang
  • View Affiliations / Copyright

    Affiliations: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong 510060, P.R. China
  • Pages: 1779-1785
    |
    Published online on: April 5, 2013
       https://doi.org/10.3892/mmr.2013.1415
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Abstract

Cone-rod dystrophy (CORD) is a hereditary retinal disorder with primary cone impairment and subsequent rod involvement. To date, mutations responsible for CORD have been reported in 24 genes. However, the systemic evaluation of variants in these genes in a cohort of patients is rare, particularly in East Asia. In this study, 58 coding exons from 20 CORD genes, including 35 exons with previously identified mutations in 17 genes and all 23 coding exons for the other 3 genes (GUCY2D, PRPH2 and KCNV2), were analyzed by cycle sequencing on 130 unrelated probands with CORD. Four heterozygous mutations, 1 novel and 3 known, were detected in 4/130 patients, including c.259G>A (p.Asp87Asn) in UNC119, c.2512C>T (p.Arg838Cys) and c.2513G>A (p.Arg838His) in GUCY2D and c.946T>G (p.Trp316Gly) in PRPH2. The result implies a comparatively low rate of mutations in these exons in Chinese patients. These data suggest that in Chinese patients, CORD may be caused by mutations in exons that have not yet been screened or in genes that have yet to be identified. Further analysis of these patients may provide clarification.
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Copy and paste a formatted citation
Spandidos Publications style
Huang L, Li S, Xiao X, Jia X, Wang P, Guo X and Zhang Q: Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep 7: 1779-1785, 2013.
APA
Huang, L., Li, S., Xiao, X., Jia, X., Wang, P., Guo, X., & Zhang, Q. (2013). Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Molecular Medicine Reports, 7, 1779-1785. https://doi.org/10.3892/mmr.2013.1415
MLA
Huang, L., Li, S., Xiao, X., Jia, X., Wang, P., Guo, X., Zhang, Q."Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy". Molecular Medicine Reports 7.6 (2013): 1779-1785.
Chicago
Huang, L., Li, S., Xiao, X., Jia, X., Wang, P., Guo, X., Zhang, Q."Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy". Molecular Medicine Reports 7, no. 6 (2013): 1779-1785. https://doi.org/10.3892/mmr.2013.1415
Copy and paste a formatted citation
x
Spandidos Publications style
Huang L, Li S, Xiao X, Jia X, Wang P, Guo X and Zhang Q: Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep 7: 1779-1785, 2013.
APA
Huang, L., Li, S., Xiao, X., Jia, X., Wang, P., Guo, X., & Zhang, Q. (2013). Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Molecular Medicine Reports, 7, 1779-1785. https://doi.org/10.3892/mmr.2013.1415
MLA
Huang, L., Li, S., Xiao, X., Jia, X., Wang, P., Guo, X., Zhang, Q."Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy". Molecular Medicine Reports 7.6 (2013): 1779-1785.
Chicago
Huang, L., Li, S., Xiao, X., Jia, X., Wang, P., Guo, X., Zhang, Q."Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy". Molecular Medicine Reports 7, no. 6 (2013): 1779-1785. https://doi.org/10.3892/mmr.2013.1415
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