Novel RS1 mutations associated with X-linked juvenile retinoschisis

Yi,Junhui; Li,Shiqiang; Jia,Xiaoyun; Xiao,Xueshan; Wang,Panfeng; Guo,Xiangming; Zhang,Qingjiong

doi:10.3892/ijmm.2012.882

Novel RS1 mutations associated with X-linked juvenile retinoschisis

Authors:
- Junhui Yi
- Shiqiang Li
- Xiaoyun Jia
- Xueshan Xiao
- Panfeng Wang
- Xiangming Guo
- Qingjiong Zhang
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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
Published online on: January 10, 2012 https://doi.org/10.3892/ijmm.2012.882
Pages: 644-648

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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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