FRMD7基因所致X连锁特发性先天性眼球震颤的研究进展

Research progress on X-linked idiopathic congenital nystagmus caused by FRMD7 gene

特发性先天性眼球震颤(idiopathic congenital nystagmus,ICN)是一种常见的眼科疾病,患者常有明显的特征性的眼部异常,多伴有学习、社交障碍,对其身心健康影响较大。ICN遗传倾向明显,多表现为X染色体连锁(显性或隐性),目前研究发现以FRMD7基因突变致病较为显著。近10余年来,国内外学者们在遗传学方面针对ICN和FRMD7基因做了大量的研究工作,取得了令人瞩目的结果。本文就2006年以来研究者们在FRMD7基因所致X连锁ICN的突变类型及位点作一总结,归纳并探讨FRMD7突变可能的致病机制,旨在为学者们提供以往研究结果的查证和未来研究方向的参考。

Idiopathic congenital nystagmus(ICN)is a common ophthalmic disease in which patients often have obvious and characteristic eye abnormalities.ICN patients are often accompanied by learning and social disorders,have a great impact on their physical and mental health.ICN which has an obvious genetic tendency and is mostly manifested as X chromosome linkage(dominant or recessive).Current studies have found that the mutation of FRMD7 gene is the most significant pathogenic factor.In the past 10 years,researchers have done a lot of work on the genetics of ICN and FRMD7 gene,and achieved remarkable results.This review summarizes the types and loci of X-linked ICN mutations caused by FRMD7 gene since 2006,and also discusses the possible pathogenesis of FRMD7 mutations,aiming to provide references for scholars to verify previous research results and future research directions.