一个患有常染色体显性先天性白内障的伊朗家庭中某基因错义突变的鉴定。
Identification of a Missense Mutation in Gene in an Iranian Family with Autosomal Dominant Congenital Cataract.
作者信息
Asghari Mahla, Abedini Soheila, Farshidianfar Melika, Tajbakhsh Amir, Derakhshan Akbar, Pasdar Alireza
机构信息
Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Medical Sciences, Islamic Azad University, Mashhad, Iran.
出版信息
J Curr Ophthalmol. 2023 Aug 11;35(1):73-78. doi: 10.4103/joco.joco_2_22. eCollection 2023 Jan-Mar.
PURPOSE
To identify the causative mutations of autosomal dominant (AD) congenital cataracts in a large Iranian family.
METHODS
The complete and accurate family history and clinical information of participants were collected. A total of 51 family members, including 22 affected and 29 unaffected individuals, were recruited in this study. We performed whole exome sequencing to reveal pathogenic mutation. We used amplification refractory mutation system polymerase chain reaction and Sanger sequencing techniques to confirm segregation in patients and also to rule it out in the healthy participants.
RESULTS
A known missense mutation, c.827C>T (S276F), in was identified. This mutation was confirmed in all patients. Neither all healthy family members nor 100 healthy individuals who served as controls from general population had this mutation.
CONCLUSION
The missense mutation c. 827C>T in the gene is associated with AD congenital lamellar cataract with complete penetrance in a six-generation Iranian family.
目的
在一个庞大的伊朗家族中鉴定常染色体显性（AD）先天性白内障的致病突变。
方法
收集参与者完整准确的家族病史和临床信息。本研究共招募了51名家族成员，包括22名患病个体和29名未患病个体。我们进行全外显子组测序以揭示致病突变。我们使用扩增阻滞突变系统聚合酶链反应和桑格测序技术来确认患者中的分离情况，并在健康参与者中排除该突变。
结果
在 中鉴定出一个已知的错义突变，c.827C>T（S276F）。所有患者均证实存在该突变。所有健康家族成员以及从普通人群中选取作为对照的100名健康个体均无此突变。
结论
基因中的错义突变c.827C>T与一个六代伊朗家族中具有完全外显率的AD先天性板层白内障相关。
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