特发性先天性眼球震颤中的 X 连锁 FRMD7 基因突变及其在眼球运动中的作用：病例报告和文献综述。

IF 1.5 4区心理学 Q3 PSYCHOLOGY, EDUCATIONAL

Journal of Psychoeducational Assessment Pub Date : 2023-03-06 eCollection Date: 2022-01-01 DOI:10.3389/fopht.2022.1080869

Fanfei Liu, Minjin Wang, Meng Liao, Longqian Liu, Xiaoshuang Jiang

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引用次数: 0

摘要

背景：特发性先天性眼球震颤（ICN特发性先天性眼球震颤（ICN）是一种遗传性疾病，其特征是无法控制的双眼共轭振荡。X 连锁特发性先天性眼球震颤是 ICN 最常见的类型之一。阐明 ICN 的遗传机制将加深我们对其分子病因的了解：我们报告了一名患有无法控制的双眼震荡和异常头部姿势的女孩，她的家庭成员中出现了一种新型杂合子错义变异（c.686G>T），该变异位于含FERM结构域7（FRMD7）基因的突变富集区。女孩接受了闭塞疗法和外科手术，平衡了双眼视力，纠正了异常的头部姿势：这是首次报道 ICN 患者的 FRMD7 蛋白 229 位 Arg（R）被 Leu（L）取代（p.R229L）的突变（c.686G>T）。

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

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.

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来源期刊

Journal of Psychoeducational Assessment PSYCHOLOGY, EDUCATIONAL-

CiteScore

3.30

自引率

5.90%

发文量

期刊介绍： The Journal of Psychoeducational Assessment (JPA) publishes contemporary and important information focusing on psychological and educational assessment research and evidence-based practices as well as assessment instrumentation. JPA is well known internationally for the quality of published assessment-related research, theory and practice papers, and book and test reviews. The methodologically sound and impiricially-based studies and critical test and book reviews will be of particular interest to all assessment specialists including practicing psychologists, psychoeducational consultants, educational diagnosticians and special educators.