中国人X连锁遗传性视网膜劈裂症患者RS1基因突变分析及临床特征

发布时间：2018-05-14 01:18

本文选题：X连锁遗传性视网膜劈裂症 + RS基因　；参考：《眼科》2015年02期

【摘要】：目的通过对国人X连锁遗传性视网膜劈裂症(XLRS)患者RS1基因突变分析,描述RS1基因突变特点和XLRS表型特征。设计回顾性病例系列。研究对象本实验室收集XLRS患者27例,其中12例家族史明确,15例为散发。方法利用PCR扩增DNA直接测序方法检测27例患者RS1基因6个编码外显子。并对所有患者行详细的眼科检查,包括矫正视力、裂隙灯显微镜查眼前节、散瞳后直接眼底镜查眼底及眼底照相、相干光断层扫描(OCT)和视网膜电图(ERG)。主要指标RS1基因基因突变,发病年龄,视力,眼底表现。结果在27例患者中检测到27种RS1基因突变,其中4种为新发现突变,22种位于第4-6外显子(85.2%),即RS1蛋白的盘状结构域。27种突变包括15种错义突变(55.6%),4种无义突变(14.8%),4种缺失或插入(14.8%),2种剪接位点改变(7.4%),2种大片段缺失(7.4%)。27例患者均为男性,平均发病年龄(4.70±1.25)岁(0~34岁)。平均最佳矫正视力(0.22±0.28)(手动~1.0)。27例患者(54眼)中,40眼黄斑劈裂(74.1%),7眼仅有周边视网膜劈裂,5眼黄斑萎缩(其中3眼合并周边视网膜劈裂)。结论本研究结果扩大了RS1基因突变谱,第4-6外显子区域是XLRS患者RS1基因突变的热突变区域,对怀疑为XRLS患者应先进行RS1基因第4-6外显子区域测序。
[Abstract]:Objective to analyze the mutation of RS1 gene in Chinese patients with X-linked retinoschisis and to describe the characteristics of RS1 gene mutation and XLRS phenotype. Design retrospective case series. Participants 27 patients with XLRS were collected in our laboratory, of whom 12 had familial history and 15 were sporadic. Methods six exons of RS1 gene were detected by PCR amplification DNA direct sequencing in 27 patients. All patients were examined with detailed ophthalmic examination, including corrected visual acuity, slit lamp microscopy, fundus and fundus radiography after pupil dilation, coherence tomography (Oct) and electroretinogram (ERG). Main outcome measures mutation of RS1 gene, age of onset, visual acuity, fundus manifestation. Results 27 RS1 gene mutations were detected in 27 patients. Among them, 4 are newly discovered mutations 22 are located in exon 4-6 85.2G, I. e., the disk-like domain of RS1 protein. 27 mutations include 15 missense mutations, four nonsense mutations, four deletions, or two splicing site changes, 7.4B and 7.4B, respectively. All the 27 patients were male. The mean age of onset was 4.70 卤1.25 years old and 34 years old. The mean best corrected visual acuity (BCVA) was 0.22 卤0.28 (54 eyes of 27 patients) with macular splitting in 40 eyes (74.1 eyes) and only 5 eyes of macular atrophy (3 eyes with peripheral retinal cleavage) in 7 eyes. Conclusion the result of this study expands the RS1 gene mutation spectrum, the exon 4-6 region is the heat mutation region of RS1 gene mutation in XLRS patients, and the exon 4-6 region of RS1 gene should be sequenced first in patients suspected to be XRLS.
【作者单位】：首都医科大学附属北京同仁医院;北京同仁眼科中心;北京市眼科研究所
【基金】：北京市卫生系统高层次卫生技术人才项目(2013-2-021)
【分类号】：R774.12

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