两个X连锁遗传先天性特发性眼球震颤家系FRMD7基因突变的研究

发布时间：2017-12-27 16:49

本文关键词：两个X连锁遗传先天性特发性眼球震颤家系FRMD7基因突变的研究　出处：《眼科新进展》2016年07期 　论文类型：期刊论文

【摘要】：目的研究两个X连锁遗传先天性特发性眼球震颤(congenital idiopathic nystagmus,CIN)家系的致病基因突变。方法在获取知情同意后,对两个家系进行病史采集及临床检查以确定其遗传表型;通过系谱分析,确定遗传模式;筛选致病基因进行直接测序,分析发现致病突变。结果两个家系均为X连锁遗传,其中CIN-01家系所有患者均携带错义突变c.685CT,位于FRMD7基因外显子8上,该突变可导致FRMD7编码的精氨酸被半胱氨酸替换(p.R229C);CIN-02家系所有患者及携带者均携带错义突变c.887GC,位于FRMD7基因外显子9上,该突变使FRMD7蛋白第296位的甘氨酸被替换为精氨酸(p.G296R)。结论 FRMD7基因c.685CT及c.887GC分别是引起CIN-01家系及CIN-02家系致病的主要原因。
[Abstract]:Objective to study the genetic mutation of two X linked genetic congenital idiopathic nystagmus (CIN) families (congenital idiopathic nystagmus). Methods after obtaining informed consent, two families were collected and examined clinically to identify their phenotypes. Genetic patterns were determined through pedigree analysis, and the pathogenic genes were screened for direct sequencing, and the mutation was identified. The two families were X genetic linkage, in which all patients CIN-01 families were carrying missense mutation c.685CT, located in exon 8 of FRMD7 gene, the mutation can cause FRMD7 encoding arginine replaced by cysteine (p.R229C); CIN-02 family of all patients and carriers were carrying missense mutations in c.887GC, located in the the exon 9 of FRMD7 gene, the mutant FRMD7 protein 296th glycine is replaced by arginine (p.G296R). Conclusion c.685CT and c.887GC of FRMD7 gene are the main causes of the pathogenesis of CIN-01 family and CIN-02 family respectively.
【作者单位】：天津医科大学眼科临床学院;天津市眼科医院;首都医科大学附属北京儿童医院;
【基金】：国家自然科学基金资助(编号:30940081) 天津市卫生局科技基金(编号:09KR09) 天津市应用基础与前沿技术研究计划(编号:15JCQNJC45000)~~
【分类号】：R777.46
【正文快照】： l l l l 李宁东出生,山西人,在读硕士研究生。E-mail:wuxiaofei1811@163.com;OR-CID:0000-0003-0599-7922About WU Xiao-Fei:Female,born inSeptember,1988.Postgraduatestudent.E-mail:wuxiaofei1811@163.com;ORCID:0000-0003-0599-7922修回日期:2016-04-05Accepted date:Apr

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