阿贝尔森辅助整合位点 1、Nebulin 和配对框 3 基因在一系列伊朗家族非综合征斜视发病中的作用:非综合征斜视遗传学的序列分析和系统回顾。

IF 1.2 Q3 OPHTHALMOLOGY
Journal of Current Ophthalmology Pub Date : 2024-03-29 eCollection Date: 2023-07-01 DOI:10.4103/joco.joco_53_22
Maliheh Rahpeyma, Aliakbar Sabermoghaddam, Mohammad Yaser Kiarudi, Amirsaeed Sabeti Aghabozorgi, Alireza Pasdar
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引用次数: 0

摘要

目的:在一系列伊朗斜视家族中寻找致病基因突变。此外,我们还系统地回顾了所有已发表的有关遗传变异在原发性和非综合征合并斜视中的作用的文章:方法:本研究选取了四个患有多例原发性和非综合征合并斜视的家庭。分别对阿贝尔森辅助整合位点 1(AHI1)、球蛋白(NEB)和配对盒 3(PAX3)基因的 23、11 和 3 号外显子进行了聚合酶链反应和 Sanger 测序。一名近亲结婚的后代接受了全外显子组测序(WES),以寻找可能的致病变异。为了进行系统综述,我们全面检索了 PubMed、Scopus 和 ISI 知识网,提取了 2021 年 4 月之前发布的相关出版物:我们研究了四个伊朗斜视家系,其不同世代的多个后代均患有斜视。在这 17 名参与者中,10 名家庭成员患有斜视,7 名家庭成员健康。桑格测序没有发现致病基因突变。因此,为了进一步研究,我们选择了一名受影响的后代进行WES研究。WES 研究显示,MYO5B 和 DHODH 基因中可能存在两种变异。这些基因变异在我们的人群中显示出较高的等位基因频率,被认为是我们这一系列伊朗家庭中的多态性:结论:我们证实,在一系列伊朗家族性斜视患者中,AHI1、NEB 和 PAX3 基因突变并不常见。此外,通过 WES,我们还发现两个意义不确定的变异可能是斜视的致病变异,但在我们的人群中,这两个变异与斜视无关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Role of Abelson Helper Integration Site 1, Nebulin, and Paired Box 3 Genes in the Development of Nonsyndromic Strabismus in a Series of Iranian Families: Sequence Analysis and Systematic Review of the Genetics of Nonsyndromic Strabismus.

Purpose: To look for causative genetic mutations in a series of Iranian families with strabismus. In addition, we systematically reviewed all the published articles regarding the role of genetic variations in primary and nonsyndromic comitant strabismus.

Methods: Four families with a history of multiple cases of primary and nonsyndromic comitant strabismus were enrolled in this study. Polymerase chain reaction and Sanger sequencing of exons 23, 11, and 3 of the Abelson helper integration site 1 (AHI1), nebulin (NEB), and paired box 3 (PAX3) genes were performed, respectively. One offspring of a consanguineous marriage underwent whole-exome sequencing (WES) to look for possible causative variants. To conduct a systematic review, we thoroughly searched PubMed, Scopus, and ISI Web of Knowledge extracting relevant publications, released by April 2021.

Results: We examined four Iranian strabismus pedigrees with multiple affected offspring in different generations. Among these 17 participants, 10 family members had strabismus and 7 were healthy. Sanger sequencing did not reveal a causative mutation. Therefore, to further investigate, one affected offspring was chosen for WES. The WES study demonstrated two possible variants in MYO5B and DHODH genes. These genetic variants showed high allele frequency in our population and are thought to be polymorphisms in our series of Iranian families.

Conclusions: We demonstrated that mutations in AHI1, NEB, and PAX3 genes were not common in a series of Iranian patients with familial strabismus. Moreover, by performing WES, we revealed that two variants of uncertain significance as possible causative variants for strabismus are not related to this disease in our population.

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来源期刊
CiteScore
2.50
自引率
6.70%
发文量
45
审稿时长
8 weeks
期刊介绍: Peer Review under the responsibility of Iranian Society of Ophthalmology Journal of Current Ophthalmology, the official publication of the Iranian Society of Ophthalmology, is a peer-reviewed, open-access, scientific journal that welcomes high quality original articles related to vision science and all fields of ophthalmology. Journal of Current Ophthalmology is the continuum of Iranian Journal of Ophthalmology published since 1969.
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