■在一系列伊朗斜视家庭中寻找致病基因突变。此外,我们系统回顾了所有已发表的有关遗传变异在原发性和非综合征性共同性斜视中的作用的文章.
■本研究纳入4个有多例原发性和非综合征性共同性斜视病史的家庭。Abelson辅助整合位点1(AHI1)的外显子23、11和3的聚合酶链反应和Sanger测序,星云(NEB),并进行配对框3(PAX3)基因,分别。近亲婚姻的一个后代接受了全外显子组测序(WES)以寻找可能的致病变异。进行系统审查,我们彻底搜索了PubMed,Scopus,和ISIWebofKnowledge提取相关出版物,2021年4月发布
■我们检查了四个伊朗斜视家系,这些家系在不同世代中有多个受影响的后代。在这17名参与者中,10名家庭成员有斜视,7名健康。Sanger测序没有发现致病突变。因此,为了进一步调查,选择一个受影响的后代进行WES。WES研究证明了MYO5B和DHODH基因中的两种可能的变体。这些遗传变异在我们的人群中显示出很高的等位基因频率,并且被认为是我们一系列伊朗家庭中的多态性。
■我们证明了AHI1,NEB,PAX3基因在一系列伊朗家族性斜视患者中并不常见。此外,通过执行WES,我们发现,在我们的人群中,作为斜视的可能致病变异的两个不确定意义的变异与该疾病无关。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.