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病例报告：新型复合杂合变异导致一个家族的三名患者患色盲症。

Case Report: Novel compound heterozygous variants cause achromatopsia in three patients from a family.

作者信息

Zhou Xiaoqiang, Zhou Yasi, Wu Shuijuan, Guo Xiaoling, Yao Liangfeng, Yang Xingkun

机构信息

Prenatal Diagnosis Center, Foshan Women and Children Hospital, Foshan, Guangdong, China.

Foshan pulisheng Biotechnology, Foshan, Guangdong, China.

出版信息

Front Genet. 2024 Nov 29;15:1457569. doi: 10.3389/fgene.2024.1457569. eCollection 2024.

DOI:10.3389/fgene.2024.1457569
PMID:39678380
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11638213/
Abstract

This study report a novel missense variant in the gene identified by targeted gene panel sequencing approach in a Chinese family with achromatopsia. The proband, a 24-year-old female, with normal intelligence, motor development and speech abilities exhibited nystagmus, amblyopia, photophobia, and indistinguishable colors. In addition, the two sisters of the proband had the same clinical symptoms, which means that three patients from a family with a monochromasia clinical diagnosis. Based on the family situation, the proband came to our hospital for facilitate genetic counseling. Genetic analysis using targeted gene panel sequencing was conducted to confirm causative variants. Compound heterozygous variants, including the novel missense c.524T>A (p.Ile175Asn) and the know missense variant c.829C>T (p.Arg277Cys), were identified in . These variants represent the genetic defects associated with achromatopsia in this family.

摘要

本研究报告了在中国一个患有色盲症的家族中，通过靶向基因panel测序方法鉴定出的该基因中的一种新型错义变异。先证者是一名24岁女性，智力、运动发育和语言能力正常，但有眼球震颤、弱视、畏光和无法辨别颜色的症状。此外，先证者的两个姐妹有相同的临床症状，这意味着该家族有三名临床诊断为全色盲症的患者。基于家庭情况，先证者前来我院以获得遗传咨询。使用靶向基因panel测序进行遗传分析以确认致病变异。在该基因中鉴定出复合杂合变异，包括新型错义变异c.524T>A（p.Ile175Asn）和已知错义变异c.829C>T（p.Arg277Cys）。这些变异代表了该家族中与色盲症相关的遗传缺陷。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/a5bfac5c5b05/fgene-15-1457569-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/10ab39177663/fgene-15-1457569-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/5ed566c850dc/fgene-15-1457569-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/f7f40ceb468b/fgene-15-1457569-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/a5bfac5c5b05/fgene-15-1457569-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/10ab39177663/fgene-15-1457569-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/5ed566c850dc/fgene-15-1457569-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/f7f40ceb468b/fgene-15-1457569-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbdb/11638213/a5bfac5c5b05/fgene-15-1457569-g004.jpg

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Molecular and Clinical Characterization of and Genes in Brazilian Patients Affected with Achromatopsia.巴西色盲症患者的 和 基因的分子和临床特征。
Genes (Basel). 2023 Jun 20;14(6):1296. doi: 10.3390/genes14061296.
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CNG channel-related retinitis pigmentosa.CNG 通道相关性视网膜色素变性。
Vision Res. 2023 Jul;208:108232. doi: 10.1016/j.visres.2023.108232. Epub 2023 Apr 11.
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Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.环核苷酸门控通道相关视网膜病变的生物学、病理生物学及基因治疗
Biomedicines. 2023 Jan 19;11(2):269. doi: 10.3390/biomedicines11020269.
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Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.系统分析 CNGA3 剪接变异体鉴定出不同的异常剪接机制。
Sci Rep. 2023 Feb 18;13(1):2896. doi: 10.1038/s41598-023-29452-9.
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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.CNGA3 基因变异谱与全色盲患者的相关性研究。
Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14.
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Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.对光转导通道中与色盲相关的突变进行结构和功能表征。
Commun Biol. 2022 Mar 1;5(1):190. doi: 10.1038/s42003-022-03120-6.
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CNG channel structure, function, and gating: a tale of conformational flexibility.CNG 通道结构、功能和门控：构象灵活性的故事。
Pflugers Arch. 2021 Sep;473(9):1423-1435. doi: 10.1007/s00424-021-02610-6. Epub 2021 Aug 6.
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Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.同时检测 CNVs 和 SNVs 可提高超声异常和正常核型胎儿的诊断检出率。
Genes (Basel). 2020 Nov 25;11(12):1397. doi: 10.3390/genes11121397.
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Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.与色盲相关基因的基因型和表型：临床基因检测参考。
Mol Vis. 2020 Aug 22;26:588-602. eCollection 2020.
10
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.针对无色素性视锥细胞营养不良的视网膜下基因治疗的安全性和视觉效果：一项非随机对照试验。
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