X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review

被引：0

作者：

Liu, Fanfei ^{[1
]}

Wang, Minjin ^{[2
]}

Liao, Meng ^{[1
]}

Liu, Longqian ^{[1
]}

Jiang, Xiaoshuang ^{[1
]}

机构：

[1] Sichuan Univ, Dept Ophthalmol, West China Hosp, Chengdu, Sichuan, Peoples R China

[2] Sichuan Univ, Dept Lab Med, West China Hosp, Chengdu, Sichuan, Peoples R China

来源：

FRONTIERS IN OPHTHALMOLOGY | 2023年 / 2卷

基金：

中国国家自然科学基金;

关键词：

idiopathic congenital nystagmus; FRMD7; X-linked; gene mutation; eye movement; CHINESE FAMILY; INFANTILE NYSTAGMUS; MISSENSE MUTATION; IDENTIFICATION; INACTIVATION;

D O I：

10.3389/fopht.2022.1080869

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Background: Idiopathic congenital nystagmus (ICN) is an inherited disorder characterized by uncontrollable binocular conjugating oscillation. X-linked idiopathic congenital nystagmus is one of the most prevalent types of ICN. Elucidation of the genetic mechanisms involved in ICN will enhance our understanding of its molecular etiology. Case presentation: We report a girl with uncontrollable binocular oscillation and anomalous head posture, then presented a novel heterozygous missense variant (c.686G>T) within the mutation-rich region of the FERM domain containing 7 (FRMD7) gene in her family member. The girl received occlusion therapy and surgical operation which balanced her binocular vision and corrected the anomalous head posture. Conclusions: This is the first report on a mutation (c.686G>T) caused the substitution of Arg (R) with Leu (L) at position 229 (p.R229L) of the FRMD7 protein in a patient with ICN.

引用

页数：8

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