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  

FRMD7 gene mutations in two families with X-linked congenital idiopathic nystagmus

作　　者：吴晓飞[1] 韩瑞芳[2] 李宁东[2,3] 

机构地区：[1]天津医科大学眼科临床学院,天津市300020 [2]天津市眼科医院,天津市300020 [3]首都医科大学附属北京儿童医院,北京市100045

出　　处：《眼科新进展》2016年第7期634-636,共3页Recent Advances in Ophthalmology

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)

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.685C>T,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.887G>C,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.685C>T及c.887G>C分别是引起CIN-01家系及CIN-02家系致病的主要原因。Objective To investigate the disease-causing gene mutations in two Chinese families with X-linked congenital idiopathic nystagmus. Methods After informed consent,the phenotype of the two families were identified by investigating the medical history and clinical features of all participants in each family. The mode of inheritance was ascertained by the pedigree analysis. Direct DNA sequence was performed after selecting the possible disease-causing genes to find the responsible mutations. Results Both families were X-linked inheritance. A missense mutation c. 685 C〉 T（ p. R229C） in exon8 of FRMD7 in family CIN-01,and a missense mutation c. 887 G 〉 C（ p. G296R） in exon9 of FRMD7 gene in family CIN-02 were found. Conclusion FRMD7 c. 685 C〉 Tand c. 887 G 〉 Cmutations are identified as the main disease-causing factors for family CIN-01 and CIN-02,respectively.

关 键 词：先天性特发性眼球震颤 X连锁遗传 FRMD7基因 突变 

分 类 号：R771.1[医药卫生—眼科]