先天性特发性眼球震颤的致病基因和基因位点  

Genetic Study of Congenital Idiopathic Nystagmus

作　　者：黄丽娟[1] 李宁东[2] Lijuan Huang;Ningdong Li(The Second Affiliated Hospital,Fujian Medical University,Quanzhou 362000,China;Beijing Children's Hospital,Capital Medical University,Beijing 100045,China)

机构地区：[1]福建医科大学附属第二医院眼科,泉州362000 [2]首都医科大学附属北京儿童医院眼科,100045

出　　处：《中华眼视光学与视觉科学杂志》2021年第1期69-72,共4页Chinese Journal Of Optometry Ophthalmology And Visual Science

基　　金：国家自然科学基金项目(81670883)。

摘　　要：先天性特发性眼球震颤(CIN)是指出生后早期出现的、无明显诱因的双眼非自主性、有节律的往返运动。CIN发病率为0.015%~0.14%。CIN患者可表现为不同程度的视力下降以及代偿头位等临床特征。CIN的病因和发病机制不明,但存在家族遗传倾向,可表现为常染色体显性、常染色体隐性以及X连锁遗传。目前报道的与常染色体显性遗传模式相关的致病基因位点有4个,与X连锁遗传模式相关的致病基因位点有3个,而只有位于X染色体上的酵母功能域包含蛋白7(FRMD7)基因被确定与CIN发病相关。笔者现就CIN的遗传特征、临床表型以及相关的致病基因位点、致病基因的发现进行综述,并阐述FRMD7基因突变引起的眼球震颤的发病机制。Congenital idiopathic nystagmus(CIN)is characterized as involuntary,rhythmic ocular oscillations without any obvious disorders in the eyes and in the visual pathway.It usually presents in the early period after birth.It is estimated that the prevalence of CIN is approaching 0.015%to 0.14%.Patients with CIN may have reduced visual acuity and compensatory head position.The etiology and the underlying pathogenesis of CIN are still unknown,but there is a tendency for family inheritance,which can be inherited as autosomal dominant,autosomal recessive,or X-linked inheritance trait.Seven pathogenic gene loci have been reported,including four loci on different autosomal chromosomes and three on the X chromosome.However,only the FERM domain containing the protein 7(FRMD7)gene on the X chromosome has been identified to be associated with the onset of CIN.In this paper,we describe the inheritance patterns of CIN,its related clinical features,as well as relevant pathogenic gene loci and genes.We will further elaborate on the underlying molecular pathogenesis of nystagmus caused by the FRMD7 gene mutations.

关 键 词：眼球震颤 基因 FRMD7 GPR143 遗传学 

分 类 号：R777.46[医药卫生—眼科]