伊朗一个近亲家庭中因突变导致的色素性视网膜炎1型：一种新突变的报告。
Retinitis pigmentosa-1 due to an mutation in a consanguineous Iranian family: Report of a novel mutation.
作者信息
Neissi Mostafa, Sheikh-Hosseini Motahareh, Mohammadi-Asl Javad
机构信息
Department of Genetics Khuzestan Science and Research Branch, Islamic Azad University Ahvaz Iran.
Department of Genetics Ahvaz Branch, Islamic Azad University Ahvaz Iran.
出版信息
Clin Case Rep. 2024 Mar 14;12(3):e8666. doi: 10.1002/ccr3.8666. eCollection 2024 Mar.
KEY CLINICAL MESSAGE
The identification of a novel gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized care.
ABSTRACT
Our study unveils a noteworthy association between retinitis pigmentosa-1 and a newly discovered homozygous mutation (c.5326delC; p.Asp1777Ilefs*32) within the gene. This highlights the crucial role of accurate variant identification in not only informing prognosis but also improving genetic consultations and influencing future diagnostic approaches for individuals affected by retinitis pigmentosa.
关键临床信息
一种新的基因突变的鉴定凸显了精确鉴定视网膜色素变性相关变异对于预后及遗传咨询的重要性，强调了进行全面基因分析以实现个性化医疗的必要性。
摘要
我们的研究揭示了视网膜色素变性1与该基因内一个新发现的纯合突变（c.5326delC；p.Asp1777Ilefs*32）之间存在显著关联。这凸显了准确鉴定变异不仅在判断预后方面，而且在改善遗传咨询以及影响视网膜色素变性患者未来诊断方法方面的关键作用。
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