NDP基因新突变G113D导致X连锁隐性遗传家族性渗出性玻璃体视网膜病变  

X-linked familial exudative vitreoretinopathy caused by a novel missense mutation G113D in NDP gene

作　　者：贾红艳[1] 杨庆松[1] 王宁利[1] 

机构地区：[1]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北京市眼科学与视觉科学重点实验室,100730

出　　处：《眼科》2013年第6期389-392,共4页Ophthalmology in China

基　　金：卫生行业科研专项基金(201002019)

摘　　要：目的对一个X连锁隐性遗传家族性渗出性玻璃体视网膜病变(FEVR)家系进行致病基因的突变筛查研究。设计基因研究。研究对象一个中国北方FEVR家系。方法应用聚合酶链式反应(PCR)和sanger测序法对FEVR的致病候选基因LRP5、FZD4、TSPAN12和NDP的全部外显子进行突变筛查,将测序结果与Genebank数据库的正常序列进行比对,将所发现的候选基因碱基改变在50个无关正常对照人群中进行PCR和测序验证。主要指标基因序列。结果在NDP基因的外显子3发现一个半合子错义突变G113D与家系男性先证者共分离,先证者母亲显示为G113D的杂合携带者,该突变在家系其他成员及正常人群中没有检测到。结论该家系的FEVR系由NDP基因外显子3的一个新的错义突变G113D导致。(眼科,2013,22:389-392)Objective To identify the genetic defect causing X-linked recessive familial exudative vitreoretinopathy （FEVR） in a Chinese pedigree. Design Gene study. Participants A Chinese family with FEVR was enrolled. Methods Mutation analyses of the candidate genes （LRPS, FZD4, TSPAN12 and NDP） was performed to detect the potential mutation by using polymerase chain reaction （PCR） and sanger sequencing. Main Outcome Measures Gene sequences. Results A novel hemizygous missense mutation G113D in exon 3 of NDP gene was cosegregated with the male proband in this family, and his mother was confirmed to be a obligate carier, this change was not found in other family members and 50 normal unrelated individuals. Conclusion It is a novel missense mutation G113D of NDP gene that causes X-linked FEVR.

关 键 词：家族性渗出性玻璃体视网膜病变 NDP基因 错义突变 

分 类 号：R774.1[医药卫生—眼科]