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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.

DOI:10.1002/ccr3.8666
PMID:38487646
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10940001/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/2273949b2314/CCR3-12-e8666-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/3b4b5752f187/CCR3-12-e8666-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/b59c3d47f284/CCR3-12-e8666-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/829bed096f4f/CCR3-12-e8666-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/2273949b2314/CCR3-12-e8666-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/3b4b5752f187/CCR3-12-e8666-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/b59c3d47f284/CCR3-12-e8666-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/829bed096f4f/CCR3-12-e8666-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f11/10940001/2273949b2314/CCR3-12-e8666-g002.jpg

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本文引用的文献

1
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.由 Rp1 双等位基因突变引起的色素性视网膜炎。
Sci Rep. 2020 Jan 31;10(1):1603. doi: 10.1038/s41598-020-58243-9.
2
Novel homozygous loss-of-function mutations in and genes in retinitis pigmentosa patients.视网膜色素变性患者中 和 基因的新型纯合功能丧失突变。
Ophthalmic Genet. 2019 Dec;40(6):507-513. doi: 10.1080/13816810.2019.1703014. Epub 2019 Dec 13.
3
Expanding the retinal phenotype of : from retinitis pigmentosa to a novel and singular macular dystrophy.扩大 : 的视网膜表型——从色素性视网膜炎到一种新颖而独特的黄斑营养不良。
外显子组测序在一个巴基斯坦家庭中鉴定出一个纯合剪接位点变异，该变异是常染色体隐性视网膜色素变性的潜在病因。
Ann Med. 2025 Dec;57(1):2470953. doi: 10.1080/07853890.2025.2470953. Epub 2025 Mar 3.
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Identification and characterization of gene mutations in an Iranian patient with Leber congenital amaurosis 9.一名伊朗莱伯先天性黑蒙9型患者基因突变的鉴定与特征分析
Clin Case Rep. 2024 Oct 22;12(10):e9506. doi: 10.1002/ccr3.9506. eCollection 2024 Oct.
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Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.一名患有RP1相关常染色体隐性遗传性视网膜色素变性的日本患者的临床和基因学发现。
Doc Ophthalmol. 2018 Aug;137(1):47-56. doi: 10.1007/s10633-018-9649-7. Epub 2018 Jul 19.
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The Akt pathway is involved in rapid ischemic tolerance in focal ischemia in Rats.Akt 通路参与了大鼠局部缺血中的快速缺血耐受。
Transl Stroke Res. 2010 Sep;1(3):202-9. doi: 10.1007/s12975-010-0017-5.
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Differential pattern of RP1 mutations in retinitis pigmentosa.视网膜色素变性中RP1突变的差异模式。
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Molecular characterization of retinitis pigmentosa in Saudi Arabia.沙特阿拉伯视网膜色素变性的分子特征
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