摘要
目的对一个先天性视网膜劈裂（XLRS）家系进行基因分析，观察其视网膜劈裂基因（RSl基因）的突变位点。方法家系研究。一个三代15人的XLRS家系纳入研究。包括先证者在内的9名家系成员行眼科常规检查。6名家系成员同时行眼底彩色照相、光相干断层扫描检查。其中，男性6人10只眼，女性3人6只眼。抽取家系成员中12人的外周静脉血，采用聚合酶链反应方法，对RSl基因的6个外显子各片段进行扩增后直接DNA测序分析，明确基因突变位点。结果眼底检查者正常4人8只眼，其中男性1人2只眼，女性3人6只眼。均无视力下降主述。检查结果符合XLRS临床诊断者5例10只，均为男性。患眼视力手动～O．5。出现视力下降时年龄均〈10岁。眼底彩色照相检查可见黄斑区放射状囊样劈裂、周边视网膜劈裂；OCT检查可见黄斑区劈裂8只眼，周边视网膜劈裂6只眼。基因检测结果显示，正常者3人，男性。5例临床确诊者RSl基因在外显子4的末位碱基发生错义突变（C．326G〉T），该突变导致RSl基因编码的视网膜劈裂蛋白第109位氨基酸由甘氨酸变为缬氨酸（P．Glyl09Val）。1名3岁儿童具有与5例患者相同的基因突变。眼底检查正常的3名女性为P．Glyl09Val突变的杂合子，为致病基因携带者。结论P．Glyl09Val突变为XLRS家系的一个新的突变位点。
Objective To report the clinical findings and RS1 gene mutation analysis ol a Chinese family with X-linked juvenile retinoschisis （XLRS）. MethodS The pedigree of this XLRS family was studied. Nine individuals （10 eyes of 6 males, 6 eyes of 3 females）, including the proband, received ocular examination, fundus photography and optical coherence tomography （OCT）. Direct DNA sequencing of the 6 exons of RS1 gene was used to detect the RS1 mutation in 12 family members. Results The present pedigree included 15 members of three generations. Among them, 5 male members were diagnosed with XLRS. The retina of other 4 family members were normal, including 1 male （2 eyes） and 3 females （6 eyes）. Visual acuity of these 5 patients ranged from hand movement to 0. 5 and both eyes of them were involved. The age when visual acuity begins to decrease was all less than 10 years. Fundus color photographic examination showed macular radial cystoid retinoschisis and retinosehisis of the peripheral retina. OCT images showed retinoschisis in macular regions （8 eyes） or peripheral retina （6 eyes）. Genetic testing showed that 1 male had no mutation in RS1 gene （p. Glyl09Val）. All 5 patients had a point mutation （c. 326G〉T） at exon 4 of RS1 gene, which cause the 109th amino acid changed from glycine to valine in the RS1 protein. A 3-year-old kid also had this mutation. The 3 females with normal retina had heterozygous mutations of Glyl09Val, so they are the mutation carriers. Conclusion The novel p. Glyl09Val mutation is the causing mutation in this Chinese family with X-linked juvenile retinoschisis.
出处
《中华眼底病杂志》
CAS
CSCD
北大核心
2014年第1期62-65,共4页
Chinese Journal of Ocular Fundus Diseases
