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Article

Novel RS1 mutations associated with X-linked juvenile retinoschisis

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

    Affiliations: Department of Ophthalmology, The Third Xiangya Hospital, Central-South University, Changsha 410013, P.R. China, State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, 54 Xianlie Road, Guangzhou 510060, P.R. China
  • Pages: 644-648
    |
    Published online on: January 10, 2012
       https://doi.org/10.3892/ijmm.2012.882
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Abstract

To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide sequences of the amplicons were determined by Sanger sequencing. Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families. Four of the ten mutations were novel, including c:176G>A (p:Cys59Tyr) in exon 3, c:531T>G (p:Tyr177X), c:607C>G (p:Pro203Ala) and c:668G>A (p:Cys223Tyr) in exon 6. These four novel mutations were not present in 176 normal individuals. The remaining six were recurrent mutations, including c:214G>A (p:Glu72Lys), c:304C>T (p:Arg102Trp), c:436G>A (p:Glu146Lys), c:544C>T (p:Arg182Cys), c:599G>A (p:Arg200His) and c:644A>T (p:Glu215Val). Our study expanded the mutation spectrum of RS1 and enriches our understanding of the molecular basis of XLRS.
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Copy and paste a formatted citation
Spandidos Publications style
Yi J, Li S, Jia X, Xiao X, Wang P, Guo X and Zhang Q: Novel RS1 mutations associated with X-linked juvenile retinoschisis. Int J Mol Med 29: 644-648, 2012.
APA
Yi, J., Li, S., Jia, X., Xiao, X., Wang, P., Guo, X., & Zhang, Q. (2012). Novel RS1 mutations associated with X-linked juvenile retinoschisis. International Journal of Molecular Medicine, 29, 644-648. https://doi.org/10.3892/ijmm.2012.882
MLA
Yi, J., Li, S., Jia, X., Xiao, X., Wang, P., Guo, X., Zhang, Q."Novel RS1 mutations associated with X-linked juvenile retinoschisis". International Journal of Molecular Medicine 29.4 (2012): 644-648.
Chicago
Yi, J., Li, S., Jia, X., Xiao, X., Wang, P., Guo, X., Zhang, Q."Novel RS1 mutations associated with X-linked juvenile retinoschisis". International Journal of Molecular Medicine 29, no. 4 (2012): 644-648. https://doi.org/10.3892/ijmm.2012.882
Copy and paste a formatted citation
x
Spandidos Publications style
Yi J, Li S, Jia X, Xiao X, Wang P, Guo X and Zhang Q: Novel RS1 mutations associated with X-linked juvenile retinoschisis. Int J Mol Med 29: 644-648, 2012.
APA
Yi, J., Li, S., Jia, X., Xiao, X., Wang, P., Guo, X., & Zhang, Q. (2012). Novel RS1 mutations associated with X-linked juvenile retinoschisis. International Journal of Molecular Medicine, 29, 644-648. https://doi.org/10.3892/ijmm.2012.882
MLA
Yi, J., Li, S., Jia, X., Xiao, X., Wang, P., Guo, X., Zhang, Q."Novel RS1 mutations associated with X-linked juvenile retinoschisis". International Journal of Molecular Medicine 29.4 (2012): 644-648.
Chicago
Yi, J., Li, S., Jia, X., Xiao, X., Wang, P., Guo, X., Zhang, Q."Novel RS1 mutations associated with X-linked juvenile retinoschisis". International Journal of Molecular Medicine 29, no. 4 (2012): 644-648. https://doi.org/10.3892/ijmm.2012.882
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