摘要
目的 应用目标区域捕获技术检测两个中国视网膜色素变性(RP)家系的EYS新突变位点,并分析其类型与临床表型特征的关系。方法 采集2018年10月在沈阳何氏眼科医院门诊确诊为视网膜色素变性的两个家系共6人纳入研究,采集所有受检者外周血5 ml,提取DNA后,采用目标区域捕获测序和Sanger验证来鉴定基因变异位点,并进一步分析该基因变异的特殊临床表型。结果 在两个家系中,门诊确诊2例患者, 4例正常表型家庭成员。基因检测发现, 1例视网膜色素变性家族中发现了EYS基因的两个错义杂合突变c.3489T>A和c.5852C>T。在另一例视网膜色素变性家族中发现了EYS基因的两个基因突变,分别是c.6557G>A和c.8153C>A,经家系共分离确认为复合杂合突变。两个家系的夜盲发病年龄提前,视力极差。结论 本研究报告了2例中国常染色体隐性遗传视网膜色素变性(ARRP)家系中EYS的两个新发突变位点c.8153C>A和c.5852C>T,扩充了视网膜色素变性的基因谱和新的临床表型。光学相干断层扫描血管成像(OCT-A)检查有助于评估黄斑中心凹下脉络膜毛细血管萎缩程度,间接评估病情发展。
Objective To analyze the new EYS gene mutations and the relationship between mutation types and clinical phenotypic characteristics of two Chinese retinitis pigmentosa(RP)families using target region sequencing technology.Methods A total of 6 people from two pedigrees that was diagnosed with retinitis pigmentosa in He University Eye Hospital in October 2018.After collecting 5 ml of peripheral blood of all subjects,DNA was extracted.Target region sequencing and Sanger sequencing were performed to identify gene variants and further analyze the specific clinical phenotype of the gene variants.Results In two families,there were 2 patients and 4 normal phenotypic family members.Genetic testing revealed that two missense heterozygous mutations of EYS gene c.3489T>A and c.5852C>T were found in 1 case of retinitis pigmented disease.2 gene mutations of EYS gene,c.6557G>A and c.8153C>A,were found in another retinitis pigmented disease family,which were confirmed as compound heterozygous mutations by family co-isolation.In both families,the onset age of night blindness was advanced and the vision was extremely poor.Conclusion This study reports two new mutations of c.8153C>A and c.5852C>T in EYS gene in 2 Chinese autosomal recessive retinitis pigmentosa(ARRP)families,which expands the gene profile and new clinical phenotype of retinitis pigmentosa.Optical coherence tomography angiography(OCT-A)examination is helpful to assess the degree of atrophy of the choroidal capillaries in the macular subfovea and indirectly assessing the progression of the disease.
出处
《中国实用医药》
2024年第5期13-18,共6页
China Practical Medicine
基金
沈阳市科技计划项目(项目编号:20-301-4-00)。
